Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Dysf'

382055

Institutional Source

Beutler Lab

Gene Symbol

Dysf

Ensembl Gene

ENSMUSG00000033788

Gene Name

dysferlin

Synonyms

2310004N10Rik

MMRRC Submission

042549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83985572-84188042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84126968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1407 (N1407S)

Ref Sequence

ENSEMBL: ENSMUSP00000145292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081904] [ENSMUST00000089595] [ENSMUST00000113818] [ENSMUST00000113821] [ENSMUST00000113823] [ENSMUST00000153860] [ENSMUST00000168387] [ENSMUST00000204987] [ENSMUST00000203695] [ENSMUST00000203803] [ENSMUST00000204354] [ENSMUST00000204591]

AlphaFold

Q9ESD7

Predicted Effect

probably benign
Transcript: ENSMUST00000081904
AA Change: N1393S

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: N1393S

Domain	Start	End	E-Value	Type
C2	1	101	2.11e-14	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	213	232	N/A	INTRINSIC
C2	255	351	4.84e-14	SMART
FerI	337	408	5.3e-39	SMART
C2	414	528	2.96e-9	SMART
FerA	714	779	6.3e-23	SMART
FerB	806	880	2.49e-44	SMART
DysFN	894	953	1.42e-22	SMART
DysFN	966	1022	2.65e-22	SMART
DysFC	1031	1069	1.33e-13	SMART
DysFC	1088	1121	1.1e-10	SMART
C2	1173	1281	2.63e-15	SMART
C2	1350	1457	7.13e0	SMART
C2	1599	1698	2.52e-12	SMART
C2	1832	1961	1.55e-3	SMART
Pfam:Ferlin_C	1991	2095	6.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089595
AA Change: N1376S

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: N1376S

Domain	Start	End	E-Value	Type
C2	1	101	2.11e-14	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
C2	224	320	4.84e-14	SMART
FerI	306	377	5.3e-39	SMART
C2	383	497	1.12e-9	SMART
FerA	697	762	6.3e-23	SMART
FerB	789	863	2.49e-44	SMART
DysFN	877	936	1.42e-22	SMART
DysFN	949	1005	2.65e-22	SMART
DysFC	1014	1052	1.33e-13	SMART
DysFC	1071	1104	1.1e-10	SMART
C2	1156	1264	2.63e-15	SMART
C2	1333	1440	7.13e0	SMART
C2	1582	1681	2.52e-12	SMART
C2	1815	1944	1.55e-3	SMART
Pfam:Ferlin_C	1974	2078	3.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113818
AA Change: N1362S

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: N1362S

Domain	Start	End	E-Value	Type
C2	1	101	2.11e-14	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
C2	224	320	4.84e-14	SMART
FerI	306	377	5.3e-39	SMART
C2	383	497	2.96e-9	SMART
FerA	683	748	6.3e-23	SMART
FerB	775	849	2.49e-44	SMART
DysFN	863	922	1.42e-22	SMART
DysFN	935	991	2.65e-22	SMART
DysFC	1000	1038	1.33e-13	SMART
DysFC	1057	1090	1.1e-10	SMART
C2	1142	1250	2.63e-15	SMART
C2	1319	1426	7.13e0	SMART
C2	1568	1667	2.52e-12	SMART
C2	1801	1930	1.55e-3	SMART
transmembrane domain	2034	2056	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113821
AA Change: N1375S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: N1375S

Domain	Start	End	E-Value	Type
C2	1	100	1.62e-15	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
C2	223	319	4.84e-14	SMART
FerI	305	376	5.3e-39	SMART
C2	382	496	1.12e-9	SMART
FerA	696	761	6.3e-23	SMART
FerB	788	862	2.49e-44	SMART
DysFN	876	935	1.42e-22	SMART
DysFN	948	1004	2.65e-22	SMART
DysFC	1013	1051	1.33e-13	SMART
DysFC	1070	1103	1.1e-10	SMART
C2	1155	1263	2.63e-15	SMART
C2	1332	1439	7.13e0	SMART
C2	1581	1680	2.52e-12	SMART
C2	1814	1943	1.55e-3	SMART
transmembrane domain	2047	2069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113823
AA Change: N1392S

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: N1392S

Domain	Start	End	E-Value	Type
C2	1	100	1.62e-15	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	212	231	N/A	INTRINSIC
C2	254	350	4.84e-14	SMART
FerI	336	407	5.3e-39	SMART
C2	413	527	2.96e-9	SMART
FerA	713	778	6.3e-23	SMART
FerB	805	879	2.49e-44	SMART
DysFN	893	952	1.42e-22	SMART
DysFN	965	1021	2.65e-22	SMART
DysFC	1030	1068	1.33e-13	SMART
DysFC	1087	1120	1.1e-10	SMART
C2	1172	1280	2.63e-15	SMART
C2	1349	1456	7.13e0	SMART
C2	1598	1697	2.52e-12	SMART
C2	1831	1960	1.55e-3	SMART
transmembrane domain	2064	2086	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142711

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153860
AA Change: N1375S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: N1375S

Domain	Start	End	E-Value	Type
C2	1	100	1.1e-17	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
C2	223	319	3.2e-16	SMART
FerI	305	376	2.6e-43	SMART
C2	382	496	7.4e-12	SMART
FerA	696	761	3.1e-27	SMART
FerB	788	862	1.2e-48	SMART
DysFN	876	935	5.3e-25	SMART
DysFN	948	1004	9.6e-25	SMART
DysFC	1013	1051	4.7e-16	SMART
DysFC	1070	1103	4.1e-13	SMART
C2	1155	1263	1.7e-17	SMART
C2	1332	1439	4.7e-2	SMART
C2	1602	1701	1.7e-14	SMART
C2	1835	1964	1.1e-5	SMART
Pfam:Ferlin_C	1994	2098	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168387
AA Change: N1383S

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: N1383S

Domain	Start	End	E-Value	Type
C2	1	100	1.62e-15	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
C2	223	319	4.84e-14	SMART
FerI	305	376	5.3e-39	SMART
C2	382	496	1.12e-9	SMART
FerA	704	769	6.3e-23	SMART
FerB	796	870	2.49e-44	SMART
DysFN	884	943	1.42e-22	SMART
DysFN	956	1012	2.65e-22	SMART
DysFC	1021	1059	1.33e-13	SMART
DysFC	1078	1111	1.1e-10	SMART
C2	1163	1271	2.63e-15	SMART
C2	1340	1447	7.13e0	SMART
C2	1589	1688	2.52e-12	SMART
C2	1822	1951	1.55e-3	SMART
transmembrane domain	2055	2077	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204987
AA Change: N1376S

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: N1376S

Domain	Start	End	E-Value	Type
C2	1	101	1.4e-16	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
C2	224	320	3.2e-16	SMART
FerI	306	377	2.6e-43	SMART
C2	383	497	7.4e-12	SMART
FerA	697	762	3.1e-27	SMART
FerB	789	863	1.2e-48	SMART
DysFN	877	936	5.3e-25	SMART
DysFN	949	1005	9.6e-25	SMART
DysFC	1014	1052	4.7e-16	SMART
DysFC	1071	1104	4.1e-13	SMART
C2	1156	1264	1.7e-17	SMART
C2	1333	1440	4.7e-2	SMART
C2	1603	1702	1.7e-14	SMART
C2	1836	1965	1.1e-5	SMART
Pfam:Ferlin_C	1995	2099	4.4e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203695
AA Change: N1407S

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: N1407S

Domain	Start	End	E-Value	Type
C2	1	101	1.4e-16	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	213	232	N/A	INTRINSIC
C2	255	351	3.2e-16	SMART
FerI	337	408	2.6e-43	SMART
C2	414	528	7.4e-12	SMART
FerA	728	793	3.1e-27	SMART
FerB	820	894	1.2e-48	SMART
DysFN	908	967	5.3e-25	SMART
DysFN	980	1036	9.6e-25	SMART
DysFC	1045	1083	4.7e-16	SMART
DysFC	1102	1135	4.1e-13	SMART
C2	1187	1295	1.7e-17	SMART
C2	1364	1471	4.7e-2	SMART
C2	1613	1712	1.7e-14	SMART
C2	1846	1975	1.1e-5	SMART
Pfam:Ferlin_C	2005	2109	4.4e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203803
AA Change: N1396S

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: N1396S

Domain	Start	End	E-Value	Type
C2	1	100	1.1e-17	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	212	231	N/A	INTRINSIC
C2	254	350	3.2e-16	SMART
FerI	336	407	2.6e-43	SMART
C2	413	527	7.4e-12	SMART
FerA	727	792	3.1e-27	SMART
FerB	819	893	1.2e-48	SMART
DysFN	907	966	5.3e-25	SMART
DysFN	979	1035	9.6e-25	SMART
DysFC	1044	1082	4.7e-16	SMART
DysFC	1101	1134	4.1e-13	SMART
C2	1186	1294	1.7e-17	SMART
C2	1353	1460	4.7e-2	SMART
C2	1602	1701	1.7e-14	SMART
C2	1835	1964	1.1e-5	SMART
Pfam:Ferlin_C	1994	2098	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204354
AA Change: N1362S

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: N1362S

Domain	Start	End	E-Value	Type
C2	1	101	1.4e-16	SMART
low complexity region	126	147	N/A	INTRINSIC
low complexity region	182	201	N/A	INTRINSIC
C2	224	320	3.2e-16	SMART
FerI	306	377	2.6e-43	SMART
C2	383	497	2e-11	SMART
FerA	683	748	3.1e-27	SMART
FerB	775	849	1.2e-48	SMART
DysFN	863	922	5.3e-25	SMART
DysFN	935	991	9.6e-25	SMART
DysFC	1000	1038	4.7e-16	SMART
DysFC	1057	1090	4.1e-13	SMART
C2	1142	1250	1.7e-17	SMART
C2	1319	1426	4.7e-2	SMART
C2	1589	1688	1.7e-14	SMART
C2	1822	1951	1.1e-5	SMART
Pfam:Ferlin_C	1981	2085	4.4e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204591
AA Change: N1392S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: N1392S

Domain	Start	End	E-Value	Type
C2	1	100	1.1e-17	SMART
low complexity region	125	146	N/A	INTRINSIC
low complexity region	212	231	N/A	INTRINSIC
C2	254	350	3.2e-16	SMART
FerI	336	407	2.6e-43	SMART
C2	413	527	2e-11	SMART
FerA	713	778	3.1e-27	SMART
FerB	805	879	1.2e-48	SMART
DysFN	893	952	5.3e-25	SMART
DysFN	965	1021	9.6e-25	SMART
DysFC	1030	1068	4.7e-16	SMART
DysFC	1087	1120	4.1e-13	SMART
C2	1172	1280	1.7e-17	SMART
C2	1349	1456	4.7e-2	SMART
C2	1619	1718	1.7e-14	SMART
C2	1852	1981	1.1e-5	SMART
Pfam:Ferlin_C	2011	2115	4.4e-22	PFAM

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,887,063 (GRCm39)		probably null	Het
4933421I07Rik	T	C	7: 42,097,083 (GRCm39)	Y76C	possibly damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Ak9	A	G	10: 41,296,585 (GRCm39)	M1444V	probably benign	Het
Amfr	A	G	8: 94,699,787 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,392,449 (GRCm39)	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,482,982 (GRCm39)	M977V	probably benign	Het
Ap3m1	A	T	14: 21,090,134 (GRCm39)	S5T	probably benign	Het
Aqr	C	A	2: 113,940,418 (GRCm39)	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,549,769 (GRCm39)	L591P	probably damaging	Het
Arid4a	C	A	12: 71,070,299 (GRCm39)	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,547,857 (GRCm39)	A149T	probably benign	Het
Avpr1a	T	A	10: 122,285,659 (GRCm39)	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,741 (GRCm39)	I109V	probably damaging	Het
Catsperd	A	G	17: 56,939,303 (GRCm39)	Y44C	probably damaging	Het
Crygb	T	G	1: 65,121,268 (GRCm39)	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,928,334 (GRCm39)	N237S	probably benign	Het
Dkk3	C	T	7: 111,717,558 (GRCm39)	A304T	probably benign	Het
Dst	T	C	1: 34,310,503 (GRCm39)	L4101S	probably damaging	Het
Epb41	A	G	4: 131,727,581 (GRCm39)	V265A	probably damaging	Het
Faim2	C	T	15: 99,419,109 (GRCm39)	E75K	possibly damaging	Het
Fam237b	T	A	5: 5,625,387 (GRCm39)	F28I	probably benign	Het
Fbn1	T	A	2: 125,159,454 (GRCm39)	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,153,950 (GRCm39)	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,105,269 (GRCm39)	I299L	probably benign	Het
Fras1	C	T	5: 96,795,357 (GRCm39)	A1050V	probably benign	Het
Fyb1	C	A	15: 6,668,292 (GRCm39)	T495K	probably damaging	Het
Ghdc	A	T	11: 100,659,977 (GRCm39)	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gm12250	G	T	11: 58,079,210 (GRCm39)		noncoding transcript	Het
Gm4846	A	T	1: 166,311,503 (GRCm39)	F452Y	probably damaging	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Gpd2	C	A	2: 57,197,025 (GRCm39)	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,493 (GRCm39)	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,542,523 (GRCm39)	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,425,480 (GRCm39)	W640L	probably benign	Het
Kalrn	A	T	16: 34,177,785 (GRCm39)		probably null	Het
Keap1	T	C	9: 21,148,582 (GRCm39)	T142A	probably damaging	Het
Kpna2	G	A	11: 106,882,061 (GRCm39)	T255M	probably damaging	Het
Kpna3	A	G	14: 61,607,838 (GRCm39)	C456R	probably damaging	Het
Lama1	G	A	17: 68,074,561 (GRCm39)		probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mag	C	A	7: 30,608,581 (GRCm39)	E178*	probably null	Het
Map3k13	A	G	16: 21,729,769 (GRCm39)	I467V	probably benign	Het
Mga	A	G	2: 119,733,782 (GRCm39)	E210G	probably damaging	Het
Msi2	C	T	11: 88,257,610 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,582,525 (GRCm39)	D521E	probably damaging	Het
Nav2	C	T	7: 48,954,288 (GRCm39)		probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nek5	T	C	8: 22,586,815 (GRCm39)	K332R	probably benign	Het
Nek5	T	A	8: 22,569,104 (GRCm39)	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Odad1	A	C	7: 45,591,615 (GRCm39)	E293A	probably damaging	Het
Or2w1	G	A	13: 21,317,514 (GRCm39)	V190I	probably benign	Het
Or5v1b	A	T	17: 37,841,641 (GRCm39)	T258S	possibly damaging	Het
Or6c204	T	A	10: 129,022,466 (GRCm39)	T275S	probably benign	Het
Or8b12b	T	A	9: 37,684,360 (GRCm39)	M135K	probably damaging	Het
Orai1	T	G	5: 123,167,313 (GRCm39)	V162G	probably damaging	Het
P2rx6	T	C	16: 17,385,308 (GRCm39)	S134P	probably damaging	Het
Pappa2	G	A	1: 158,684,706 (GRCm39)	T811I	probably null	Het
Pcdhga10	T	C	18: 37,880,213 (GRCm39)		probably benign	Het
Pex16	C	T	2: 92,209,405 (GRCm39)	R241*	probably null	Het
Plxnb1	T	C	9: 108,943,904 (GRCm39)	F1969L	probably damaging	Het
Postn	A	G	3: 54,297,736 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,277 (GRCm39)	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,870,339 (GRCm39)	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,094,952 (GRCm39)	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,597 (GRCm39)	D405G	probably damaging	Het
Rell1	A	G	5: 64,097,010 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,808,072 (GRCm39)	S224P	probably damaging	Het
Scarb2	A	T	5: 92,602,636 (GRCm39)	I260K	probably damaging	Het
Septin4	A	G	11: 87,458,598 (GRCm39)	N324S	probably benign	Het
Slc15a4	A	G	5: 127,680,901 (GRCm39)	F72L	probably damaging	Het
Spg7	C	A	8: 123,816,910 (GRCm39)	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589 (GRCm39)	T164A	probably benign	Het
Syt11	C	T	3: 88,669,590 (GRCm39)	G101S	possibly damaging	Het
Traj12	A	G	14: 54,444,013 (GRCm39)		probably benign	Het
Traj7	A	T	14: 54,448,981 (GRCm39)		probably benign	Het
Tysnd1	C	T	10: 61,537,855 (GRCm39)	T175I	possibly damaging	Het
Usp48	T	G	4: 137,334,004 (GRCm39)	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,400,317 (GRCm39)	L244P	probably benign	Het
Wasf1	C	A	10: 40,812,186 (GRCm39)	P325Q	unknown	Het
Zc3h18	T	A	8: 123,137,639 (GRCm39)		probably benign	Het
Zfp712	A	G	13: 67,188,905 (GRCm39)	S541P	possibly damaging	Het

Other mutations in Dysf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Dysf	APN	6	84,085,081 (GRCm39)	missense	probably damaging	1.00
IGL00340:Dysf	APN	6	84,118,933 (GRCm39)	missense	probably benign	0.02
IGL00429:Dysf	APN	6	84,166,826 (GRCm39)	missense	probably damaging	1.00
IGL00465:Dysf	APN	6	84,176,830 (GRCm39)	critical splice donor site	probably null
IGL00800:Dysf	APN	6	84,126,980 (GRCm39)	missense	probably damaging	1.00
IGL01069:Dysf	APN	6	84,176,767 (GRCm39)	missense	possibly damaging	0.94
IGL01094:Dysf	APN	6	84,171,368 (GRCm39)	missense	probably damaging	1.00
IGL01420:Dysf	APN	6	84,126,741 (GRCm39)	nonsense	probably null
IGL01649:Dysf	APN	6	84,176,821 (GRCm39)	missense	probably damaging	1.00
IGL01923:Dysf	APN	6	84,187,811 (GRCm39)	makesense	probably null
IGL01991:Dysf	APN	6	84,090,600 (GRCm39)	missense	probably damaging	1.00
IGL01999:Dysf	APN	6	84,090,600 (GRCm39)	missense	probably damaging	1.00
IGL02002:Dysf	APN	6	84,187,769 (GRCm39)	splice site	probably benign
IGL02136:Dysf	APN	6	84,085,149 (GRCm39)	missense	probably benign	0.43
IGL02318:Dysf	APN	6	84,163,446 (GRCm39)	missense	possibly damaging	0.50
IGL02378:Dysf	APN	6	84,088,887 (GRCm39)	missense	probably damaging	1.00
IGL02404:Dysf	APN	6	84,093,043 (GRCm39)	missense	probably damaging	1.00
IGL02416:Dysf	APN	6	84,169,896 (GRCm39)	missense	possibly damaging	0.92
IGL02535:Dysf	APN	6	84,126,679 (GRCm39)	missense	possibly damaging	0.45
IGL02553:Dysf	APN	6	84,107,109 (GRCm39)	missense	possibly damaging	0.95
IGL02559:Dysf	APN	6	84,044,428 (GRCm39)	splice site	probably benign
IGL02563:Dysf	APN	6	84,163,498 (GRCm39)	splice site	probably benign
IGL02647:Dysf	APN	6	84,114,355 (GRCm39)	missense	probably damaging	1.00
IGL02820:Dysf	APN	6	84,077,187 (GRCm39)	missense	probably damaging	0.99
IGL02858:Dysf	APN	6	84,076,471 (GRCm39)	missense	probably benign	0.01
IGL02860:Dysf	APN	6	84,167,880 (GRCm39)	critical splice donor site	probably null
IGL02861:Dysf	APN	6	84,016,519 (GRCm39)	missense	probably damaging	0.99
IGL03008:Dysf	APN	6	84,050,876 (GRCm39)	missense	probably benign	0.01
IGL03023:Dysf	APN	6	84,169,989 (GRCm39)	missense	probably damaging	1.00
IGL03074:Dysf	APN	6	84,165,208 (GRCm39)	missense	probably benign	0.25
IGL03342:Dysf	APN	6	84,167,854 (GRCm39)	missense	probably benign
PIT4305001:Dysf	UTSW	6	84,077,216 (GRCm39)	nonsense	probably null
R0067:Dysf	UTSW	6	84,040,313 (GRCm39)	missense	possibly damaging	0.58
R0106:Dysf	UTSW	6	84,090,318 (GRCm39)	missense	probably benign	0.07
R0106:Dysf	UTSW	6	84,090,318 (GRCm39)	missense	probably benign	0.07
R0124:Dysf	UTSW	6	84,042,084 (GRCm39)	splice site	probably benign
R0219:Dysf	UTSW	6	84,106,443 (GRCm39)	splice site	probably benign
R0238:Dysf	UTSW	6	84,041,461 (GRCm39)	nonsense	probably null
R0238:Dysf	UTSW	6	84,041,461 (GRCm39)	nonsense	probably null
R0239:Dysf	UTSW	6	84,041,461 (GRCm39)	nonsense	probably null
R0239:Dysf	UTSW	6	84,041,461 (GRCm39)	nonsense	probably null
R0426:Dysf	UTSW	6	84,126,739 (GRCm39)	missense	probably damaging	1.00
R0455:Dysf	UTSW	6	84,117,649 (GRCm39)	missense	probably benign	0.29
R0482:Dysf	UTSW	6	84,129,387 (GRCm39)	missense	probably benign	0.03
R0545:Dysf	UTSW	6	84,076,443 (GRCm39)	missense	probably damaging	0.99
R0625:Dysf	UTSW	6	84,088,969 (GRCm39)	splice site	probably null
R0676:Dysf	UTSW	6	84,090,318 (GRCm39)	missense	probably benign	0.07
R0699:Dysf	UTSW	6	84,167,828 (GRCm39)	missense	probably benign	0.00
R1165:Dysf	UTSW	6	84,044,051 (GRCm39)	missense	probably damaging	0.98
R1455:Dysf	UTSW	6	84,090,368 (GRCm39)	missense	probably benign	0.01
R1582:Dysf	UTSW	6	84,074,749 (GRCm39)	missense	probably damaging	1.00
R1584:Dysf	UTSW	6	84,044,029 (GRCm39)	missense	probably benign	0.04
R1605:Dysf	UTSW	6	84,083,923 (GRCm39)	missense	probably damaging	0.96
R1674:Dysf	UTSW	6	84,156,697 (GRCm39)	missense	probably benign	0.01
R1739:Dysf	UTSW	6	84,089,217 (GRCm39)	critical splice donor site	probably null
R1765:Dysf	UTSW	6	84,167,884 (GRCm39)	splice site	probably null
R1813:Dysf	UTSW	6	84,128,906 (GRCm39)	missense	possibly damaging	0.83
R1900:Dysf	UTSW	6	84,016,549 (GRCm39)	missense	probably damaging	0.97
R1960:Dysf	UTSW	6	84,050,885 (GRCm39)	missense	probably benign	0.12
R2216:Dysf	UTSW	6	84,184,227 (GRCm39)	splice site	probably null
R2242:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2243:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2245:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2246:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2280:Dysf	UTSW	6	84,041,476 (GRCm39)	missense	probably damaging	0.99
R2374:Dysf	UTSW	6	84,074,711 (GRCm39)	missense	probably damaging	1.00
R2403:Dysf	UTSW	6	84,016,549 (GRCm39)	missense	possibly damaging	0.84
R2763:Dysf	UTSW	6	84,083,914 (GRCm39)	missense	probably benign	0.00
R2895:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2916:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R2918:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3402:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3403:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3434:Dysf	UTSW	6	84,047,870 (GRCm39)	missense	probably benign	0.00
R3772:Dysf	UTSW	6	84,129,333 (GRCm39)	missense	possibly damaging	0.63
R3781:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3789:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3822:Dysf	UTSW	6	84,184,070 (GRCm39)	splice site	probably benign
R3918:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3919:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3939:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R3942:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R4177:Dysf	UTSW	6	84,044,013 (GRCm39)	nonsense	probably null
R4179:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R4180:Dysf	UTSW	6	84,163,491 (GRCm39)	critical splice donor site	probably null
R4299:Dysf	UTSW	6	84,045,059 (GRCm39)	missense	possibly damaging	0.78
R4419:Dysf	UTSW	6	84,184,224 (GRCm39)	critical splice donor site	probably null
R4446:Dysf	UTSW	6	84,182,854 (GRCm39)	missense	probably damaging	1.00
R4577:Dysf	UTSW	6	84,114,308 (GRCm39)	missense	probably damaging	1.00
R4680:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4708:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4709:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4710:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4725:Dysf	UTSW	6	84,074,738 (GRCm39)	missense	probably damaging	1.00
R4742:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4743:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4749:Dysf	UTSW	6	84,043,990 (GRCm39)	missense	probably damaging	1.00
R4787:Dysf	UTSW	6	84,180,310 (GRCm39)	nonsense	probably null
R4850:Dysf	UTSW	6	84,074,697 (GRCm39)	missense	probably damaging	0.99
R4868:Dysf	UTSW	6	84,156,675 (GRCm39)	missense	probably damaging	1.00
R4871:Dysf	UTSW	6	84,044,005 (GRCm39)	missense	possibly damaging	0.93
R4951:Dysf	UTSW	6	84,091,102 (GRCm39)	critical splice donor site	probably null
R5009:Dysf	UTSW	6	84,128,968 (GRCm39)	missense	probably damaging	1.00
R5072:Dysf	UTSW	6	84,114,254 (GRCm39)	missense	probably damaging	1.00
R5073:Dysf	UTSW	6	84,114,254 (GRCm39)	missense	probably damaging	1.00
R5074:Dysf	UTSW	6	84,114,254 (GRCm39)	missense	probably damaging	1.00
R5252:Dysf	UTSW	6	84,163,450 (GRCm39)	missense	probably damaging	0.98
R5260:Dysf	UTSW	6	84,127,016 (GRCm39)	missense	probably damaging	1.00
R5447:Dysf	UTSW	6	84,172,245 (GRCm39)	missense	probably damaging	0.98
R5501:Dysf	UTSW	6	84,064,800 (GRCm39)	missense	probably damaging	0.99
R5533:Dysf	UTSW	6	84,163,453 (GRCm39)	missense	probably damaging	0.99
R5611:Dysf	UTSW	6	84,041,860 (GRCm39)	missense	probably damaging	0.98
R5618:Dysf	UTSW	6	84,083,806 (GRCm39)	missense	probably benign	0.03
R5884:Dysf	UTSW	6	84,163,063 (GRCm39)	missense	probably damaging	1.00
R5927:Dysf	UTSW	6	84,184,194 (GRCm39)	missense	probably damaging	1.00
R6045:Dysf	UTSW	6	84,091,054 (GRCm39)	missense	probably damaging	0.99
R6056:Dysf	UTSW	6	84,083,844 (GRCm39)	missense	probably benign
R6084:Dysf	UTSW	6	83,996,586 (GRCm39)	missense	probably damaging	0.98
R6084:Dysf	UTSW	6	84,089,101 (GRCm39)	missense	probably damaging	1.00
R6146:Dysf	UTSW	6	84,180,181 (GRCm39)	missense	probably damaging	0.96
R6220:Dysf	UTSW	6	84,126,727 (GRCm39)	missense	probably damaging	0.97
R6232:Dysf	UTSW	6	84,075,235 (GRCm39)	missense	probably benign	0.26
R6247:Dysf	UTSW	6	84,043,981 (GRCm39)	missense	probably damaging	1.00
R6298:Dysf	UTSW	6	84,084,118 (GRCm39)	splice site	probably null
R6306:Dysf	UTSW	6	84,114,248 (GRCm39)	missense	possibly damaging	0.91
R6377:Dysf	UTSW	6	83,985,945 (GRCm39)	missense	probably benign
R6415:Dysf	UTSW	6	84,117,024 (GRCm39)	missense	probably damaging	1.00
R6444:Dysf	UTSW	6	84,167,822 (GRCm39)	missense	probably benign	0.36
R6470:Dysf	UTSW	6	84,043,926 (GRCm39)	missense	possibly damaging	0.93
R6504:Dysf	UTSW	6	83,985,907 (GRCm39)	missense	probably benign	0.03
R6557:Dysf	UTSW	6	84,163,366 (GRCm39)	missense	probably damaging	0.99
R6665:Dysf	UTSW	6	84,107,098 (GRCm39)	missense	probably benign
R6701:Dysf	UTSW	6	84,089,172 (GRCm39)	missense	probably damaging	1.00
R6776:Dysf	UTSW	6	84,041,876 (GRCm39)	missense	possibly damaging	0.88
R6909:Dysf	UTSW	6	84,169,920 (GRCm39)	missense	probably damaging	1.00
R7007:Dysf	UTSW	6	84,090,962 (GRCm39)	missense	probably damaging	1.00
R7013:Dysf	UTSW	6	84,114,340 (GRCm39)	missense	probably damaging	1.00
R7035:Dysf	UTSW	6	84,163,374 (GRCm39)	missense	probably benign	0.02
R7094:Dysf	UTSW	6	84,077,184 (GRCm39)	missense	probably benign	0.43
R7124:Dysf	UTSW	6	84,167,883 (GRCm39)	splice site	probably null
R7156:Dysf	UTSW	6	84,064,858 (GRCm39)	critical splice donor site	probably null
R7261:Dysf	UTSW	6	84,169,992 (GRCm39)	missense	probably damaging	0.98
R7296:Dysf	UTSW	6	84,083,880 (GRCm39)	missense	probably benign	0.33
R7356:Dysf	UTSW	6	84,044,443 (GRCm39)	missense	probably damaging	1.00
R7359:Dysf	UTSW	6	84,172,306 (GRCm39)	splice site	probably null
R7384:Dysf	UTSW	6	84,091,087 (GRCm39)	missense	probably benign	0.17
R7409:Dysf	UTSW	6	84,126,664 (GRCm39)	missense	probably benign	0.00
R7449:Dysf	UTSW	6	84,114,362 (GRCm39)	missense	possibly damaging	0.90
R7476:Dysf	UTSW	6	84,041,878 (GRCm39)	missense	probably benign	0.08
R7496:Dysf	UTSW	6	84,044,460 (GRCm39)	missense	probably benign	0.43
R7573:Dysf	UTSW	6	84,107,104 (GRCm39)	missense	possibly damaging	0.59
R7616:Dysf	UTSW	6	84,078,945 (GRCm39)	missense	probably benign	0.01
R7684:Dysf	UTSW	6	84,077,117 (GRCm39)	missense	probably benign	0.00
R7808:Dysf	UTSW	6	84,047,911 (GRCm39)	missense	possibly damaging	0.86
R7836:Dysf	UTSW	6	84,114,380 (GRCm39)	missense	probably damaging	1.00
R7868:Dysf	UTSW	6	84,091,081 (GRCm39)	missense	probably benign	0.00
R7873:Dysf	UTSW	6	84,060,747 (GRCm39)	missense	probably benign
R7956:Dysf	UTSW	6	83,985,978 (GRCm39)	missense	probably benign	0.01
R8130:Dysf	UTSW	6	84,114,358 (GRCm39)	missense	probably damaging	0.97
R8357:Dysf	UTSW	6	84,165,227 (GRCm39)	missense	probably benign	0.01
R8383:Dysf	UTSW	6	83,996,565 (GRCm39)	missense	probably damaging	1.00
R8457:Dysf	UTSW	6	84,165,227 (GRCm39)	missense	probably benign	0.01
R8693:Dysf	UTSW	6	84,088,952 (GRCm39)	missense	probably damaging	1.00
R8738:Dysf	UTSW	6	84,171,353 (GRCm39)	missense	probably damaging	1.00
R8808:Dysf	UTSW	6	83,996,466 (GRCm39)	start gained	probably benign
R8836:Dysf	UTSW	6	84,093,105 (GRCm39)	missense	probably damaging	1.00
R8915:Dysf	UTSW	6	84,156,736 (GRCm39)	missense	probably benign
R8959:Dysf	UTSW	6	84,078,945 (GRCm39)	missense	probably benign	0.01
R9091:Dysf	UTSW	6	84,077,216 (GRCm39)	nonsense	probably null
R9095:Dysf	UTSW	6	84,156,666 (GRCm39)	missense	probably benign	0.01
R9162:Dysf	UTSW	6	84,089,215 (GRCm39)	missense	probably damaging	1.00
R9164:Dysf	UTSW	6	84,180,308 (GRCm39)	missense	probably damaging	1.00
R9166:Dysf	UTSW	6	84,126,959 (GRCm39)	missense	probably damaging	1.00
R9173:Dysf	UTSW	6	84,171,379 (GRCm39)	missense	probably benign	0.10
R9191:Dysf	UTSW	6	84,045,048 (GRCm39)	missense	probably benign	0.43
R9270:Dysf	UTSW	6	84,077,216 (GRCm39)	nonsense	probably null
R9328:Dysf	UTSW	6	84,050,895 (GRCm39)	missense	probably damaging	1.00
R9470:Dysf	UTSW	6	84,090,352 (GRCm39)	missense	possibly damaging	0.59
R9509:Dysf	UTSW	6	84,187,779 (GRCm39)	missense	probably damaging	0.98
R9511:Dysf	UTSW	6	84,090,650 (GRCm39)	missense	probably damaging	1.00
R9526:Dysf	UTSW	6	84,128,885 (GRCm39)	missense	probably damaging	0.99
R9751:Dysf	UTSW	6	84,163,450 (GRCm39)	missense	probably damaging	0.98
X0063:Dysf	UTSW	6	84,040,336 (GRCm39)	missense	probably damaging	0.97
X0066:Dysf	UTSW	6	84,091,084 (GRCm39)	missense	possibly damaging	0.77
Z1176:Dysf	UTSW	6	84,049,667 (GRCm39)	missense	probably damaging	1.00
Z1177:Dysf	UTSW	6	84,064,799 (GRCm39)	missense	probably benign	0.39
Z1177:Dysf	UTSW	6	84,041,505 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACTGCCATTGAGGTGAGC -3'
(R):5'- ATATTCATAGGGTAGCAGAGTGC -3'

Sequencing Primer
(F):5'- TTGTGGGTCAGGGGCCAC -3'
(R):5'- GTGCAAAGATGATATGACTCACAC -3'

Posted On

2016-04-27