Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Dysf'

482377

Institutional Source

Beutler Lab

Gene Symbol

Dysf

Ensembl Gene

ENSMUSG00000033788

Gene Name

dysferlin

Synonyms

2310004N10Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83985572-84188042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84089101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 888 (L888P)

Ref Sequence

ENSEMBL: ENSMUSP00000144705 (fasta)

Gene Model

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

AlphaFold

Q9ESD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000081904
AA Change: L919P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: L919P

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

possibly damaging
Transcript: ENSMUST00000089595
AA Change: L902P

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: L902P

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 damaging
Transcript: ENSMUST00000113818
AA Change: L888P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: L888P

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: L901P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: L901P

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 damaging
Transcript: ENSMUST00000113823
AA Change: L918P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: L918P

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: ENSMUST00000127459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152646

Predicted Effect

probably damaging
Transcript: ENSMUST00000153860
AA Change: L901P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: L901P

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 damaging
Transcript: ENSMUST00000168387
AA Change: L909P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: L909P

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

probably damaging
Transcript: ENSMUST00000203695
AA Change: L933P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: L933P

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

probably damaging
Transcript: ENSMUST00000203803
AA Change: L932P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: L932P

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 damaging
Transcript: ENSMUST00000204354
AA Change: L888P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: L888P

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

probably damaging
Transcript: ENSMUST00000204591
AA Change: L918P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: L918P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204987
AA Change: L902P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: L902P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,828,297 (GRCm39)	D958G	possibly damaging	Het
Bag4	T	C	8: 26,261,259 (GRCm39)	T161A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,374,720 (GRCm39)		probably null	Het
Cass4	G	T	2: 172,268,832 (GRCm39)	A307S	probably benign	Het
Cbln4	A	T	2: 171,884,016 (GRCm39)	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,826,015 (GRCm39)	N2K	probably benign	Het
Ccnf	T	A	17: 24,450,811 (GRCm39)	D389V	probably damaging	Het
Cdipt	T	C	7: 126,578,773 (GRCm39)	S161P	probably benign	Het
Ceacam19	T	C	7: 19,616,812 (GRCm39)	I161V	probably benign	Het
Cfap65	A	G	1: 74,959,564 (GRCm39)	I862T	probably damaging	Het
Cfi	T	A	3: 129,652,019 (GRCm39)	L230Q	probably benign	Het
Chac2	G	A	11: 30,936,159 (GRCm39)	R30W	probably damaging	Het
Cmc2	G	A	8: 117,616,566 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,505,840 (GRCm39)	M1L	probably benign	Het
Cox8a	C	A	19: 7,194,783 (GRCm39)	R32L	possibly damaging	Het
Cubn	T	A	2: 13,435,708 (GRCm39)	N1083Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,504 (GRCm39)	D132G	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,527,212 (GRCm39)	D358G	probably benign	Het
Ebf4	A	G	2: 130,151,643 (GRCm39)	D277G	probably damaging	Het
Ecm2	T	A	13: 49,668,570 (GRCm39)	L91*	probably null	Het
Foxs1	T	C	2: 152,774,762 (GRCm39)	D97G	possibly damaging	Het
Frs2	A	C	10: 116,912,714 (GRCm39)		probably null	Het
Grp	A	T	18: 66,013,008 (GRCm39)	D58V	probably damaging	Het
Hif1a	T	G	12: 73,988,616 (GRCm39)	F537C	probably damaging	Het
Icam4	G	A	9: 20,940,835 (GRCm39)	S29N	probably benign	Het
Itfg1	T	C	8: 86,452,799 (GRCm39)	E523G	probably benign	Het
Jph2	T	C	2: 163,217,600 (GRCm39)	K359E	probably damaging	Het
Katnip	G	A	7: 125,414,037 (GRCm39)	G394R	probably benign	Het
Kcnq2	A	T	2: 180,729,449 (GRCm39)	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,257,795 (GRCm39)	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,737,721 (GRCm39)	Y197C	probably benign	Het
Lrp1	T	C	10: 127,396,422 (GRCm39)	N2381D	probably benign	Het
Man1a	A	T	10: 53,795,307 (GRCm39)	W649R	probably damaging	Het
Map4	T	C	9: 109,893,360 (GRCm39)	L542P	probably damaging	Het
Mboat2	A	T	12: 24,928,284 (GRCm39)	H52L	probably damaging	Het
Mok	C	G	12: 110,781,380 (GRCm39)	S91T	probably benign	Het
Mtmr11	G	T	3: 96,075,400 (GRCm39)	R360L	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncoa4-ps	A	G	12: 119,225,386 (GRCm39)		noncoding transcript	Het
Or1j13	A	G	2: 36,369,524 (GRCm39)	V206A	probably benign	Het
Or4g7	A	T	2: 111,309,734 (GRCm39)	N202Y	probably damaging	Het
Or52z1	C	T	7: 103,437,162 (GRCm39)	M107I	probably benign	Het
Or55b4	T	C	7: 102,133,596 (GRCm39)	T244A	probably damaging	Het
Or7d11	A	T	9: 19,966,179 (GRCm39)	H75Q	possibly damaging	Het
Or7g21	A	G	9: 19,032,623 (GRCm39)	D121G	probably damaging	Het
Padi3	G	T	4: 140,523,154 (GRCm39)	T292N	probably damaging	Het
Pard6g	A	C	18: 80,160,420 (GRCm39)	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,740,726 (GRCm39)	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,819,289 (GRCm39)	T398I	probably damaging	Het
Prickle2	A	T	6: 92,393,829 (GRCm39)	C225*	probably null	Het
Prmt2	G	A	10: 76,046,278 (GRCm39)	T317I	probably benign	Het
Psg22	T	G	7: 18,453,705 (GRCm39)	N172K	probably benign	Het
Ptpn9	C	T	9: 56,940,447 (GRCm39)	R196*	probably null	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,026,622 (GRCm39)		probably null	Het
Rlf	A	T	4: 121,006,412 (GRCm39)	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,616,255 (GRCm39)	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007 (GRCm39)	E636G	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,738,838 (GRCm39)	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,680,110 (GRCm39)	M102V	probably benign	Het
Slc34a2	T	A	5: 53,224,989 (GRCm39)	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,492,496 (GRCm39)	V293A	probably benign	Het
Spidr	A	T	16: 15,957,888 (GRCm39)	S80T	possibly damaging	Het
Syne1	C	T	10: 5,298,994 (GRCm39)	E1031K	probably damaging	Het
Synj2	G	A	17: 6,067,889 (GRCm39)	V121I	probably damaging	Het
Synj2	A	T	17: 6,088,373 (GRCm39)	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,895,543 (GRCm39)	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,861,164 (GRCm39)	I986F	probably benign	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Ttll10	T	A	4: 156,129,814 (GRCm39)	D283V	probably benign	Het
Ttn	T	A	2: 76,645,123 (GRCm39)	K673*	probably null	Het
Ubqlnl	T	A	7: 103,797,905 (GRCm39)	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,832,721 (GRCm39)	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,024,467 (GRCm39)	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,366,205 (GRCm39)	Q243L	probably damaging	Het
Wdr24	C	A	17: 26,043,504 (GRCm39)	R109S	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp616	A	T	11: 73,974,672 (GRCm39)	K314*	probably null	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
R4952:Dysf	UTSW	6	84,126,968 (GRCm39)	missense	possibly damaging	0.79
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
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'- AGTTTGCTGAGGGAAAGCTCTC -3'
(R):5'- GGGTCCAAACAACAGTCTCTG -3'

Posted On

2017-07-14