Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Dysf'

592934

Institutional Source

Beutler Lab

Gene Symbol

Dysf

Ensembl Gene

ENSMUSG00000033788

Gene Name

dysferlin

Synonyms

2310004N10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84008590-84211060 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84100135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 648 (S648P)

Ref Sequence

ENSEMBL: ENSMUSP00000132297 (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 benign
Transcript: ENSMUST00000081904

SMART Domains

Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788

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

SMART Domains

Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788

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

SMART Domains

Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788

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

probably benign
Transcript: ENSMUST00000113821

SMART Domains

Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788

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

SMART Domains

Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788

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

probably benign
Transcript: ENSMUST00000153860

SMART Domains

Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788

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: S648P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: S648P

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 benign
Transcript: ENSMUST00000203695

SMART Domains

Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788

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 benign
Transcript: ENSMUST00000203803

SMART Domains

Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788

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

SMART Domains

Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788

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 benign
Transcript: ENSMUST00000204591

SMART Domains

Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788

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

probably benign
Transcript: ENSMUST00000204987

SMART Domains

Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,540	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807	F60S	probably damaging	Het
Adam6b	G	A	12: 113,491,576	W671*	probably null	Het
Ankrd36	A	G	11: 5,570,113	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,281,828	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,819,663	M659K	probably benign	Het
Cacna1h	A	G	17: 25,389,372	Y854H	probably damaging	Het
Chd3	A	T	11: 69,357,866	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,562,447	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,649,247	D58E	probably damaging	Het
Cul9	T	G	17: 46,509,889	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,518,352	F11I	probably benign	Het
Cysrt1	A	T	2: 25,239,082	C139*	probably null	Het
Dnajc16	A	G	4: 141,774,568	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,897,340	V437A	probably benign	Het
Dok5	T	C	2: 170,841,424	C202R	probably damaging	Het
Dusp11	T	A	6: 85,950,560	R164S	probably damaging	Het
Egfem1	A	T	3: 29,690,185	R581S	probably damaging	Het
Enpep	A	G	3: 129,321,445	F226S	probably damaging	Het
Ep400	A	G	5: 110,697,352	I1541T	unknown	Het
Exd1	A	G	2: 119,520,203	S526P	probably damaging	Het
Fam118a	A	G	15: 85,058,781	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,690,645	N193S	probably benign	Het
Fat3	A	G	9: 15,988,268		probably null	Het
Flg2	T	C	3: 93,219,649	V1956A	unknown	Het
Fzd10	A	G	5: 128,601,416	I67V	possibly damaging	Het
Gckr	A	T	5: 31,307,797	D370V	probably damaging	Het
Gm8797	A	T	3: 5,751,088	Q62L	probably benign	Het
H6pd	G	T	4: 149,996,062	Q109K	probably benign	Het
Higd1a	T	C	9: 121,850,256	K55R	possibly damaging	Het
Il1b	C	T	2: 129,367,357	V118I	probably benign	Het
Insr	T	C	8: 3,169,753	N923S	possibly damaging	Het
Krit1	A	G	5: 3,830,723	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,127,025	D1070G	probably null	Het
Lpcat2	T	A	8: 92,909,195	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,911,563	F427Y	probably benign	Het
Mtx1	A	T	3: 89,210,432	I258K	possibly damaging	Het
Nckap5	T	C	1: 126,026,857	T653A	probably benign	Het
Npas3	A	T	12: 54,068,826	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,472,565	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,471,176	K154N	probably damaging	Het
Oard1	T	C	17: 48,416,698	L124P	probably damaging	Het
Olfr1122	T	C	2: 87,388,028	S108P	probably damaging	Het
Olfr1337	T	C	4: 118,782,274	M104V	probably benign	Het
Olfr615	T	C	7: 103,561,218	F247S	probably benign	Het
Olfr642	G	A	7: 104,049,460	T298I	probably damaging	Het
Ovgp1	A	T	3: 105,979,956	T223S	probably damaging	Het
Pik3c2a	A	T	7: 116,388,077	Y536*	probably null	Het
Plekho2	A	T	9: 65,559,534		probably null	Het
Prelid3b	T	C	2: 174,468,417		probably null	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,670,907	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,810,354	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,490,840	V177L	probably benign	Het
Slc22a8	A	G	19: 8,609,930	I451M	probably benign	Het
Slc39a12	T	C	2: 14,449,859	S563P	probably damaging	Het
Snx20	T	C	8: 88,627,235	D289G	probably benign	Het
Sptb	A	G	12: 76,612,195	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,316,486	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,147,733		probably benign	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Thy1	G	A	9: 44,046,558	G13D	unknown	Het
Ticam1	A	G	17: 56,269,984	S704P	unknown	Het
Tmem151b	A	G	17: 45,547,003	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,863,502	N452S	probably benign	Het
Ttc9c	A	G	19: 8,811,764	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,147,868	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,840,625	S245Y	probably damaging	Het
Urb1	A	T	16: 90,786,118	L621*	probably null	Het
Wdr72	A	T	9: 74,147,010	T224S	probably damaging	Het
Zc3h18	T	G	8: 122,407,426	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908	N291K	probably benign	Het
Zfp609	T	C	9: 65,731,080	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,613,342	H303Q	probably damaging	Het

Other mutations in Dysf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Dysf	APN	6	84108099	missense	probably damaging	1.00
IGL00340:Dysf	APN	6	84141951	missense	probably benign	0.02
IGL00429:Dysf	APN	6	84189844	missense	probably damaging	1.00
IGL00465:Dysf	APN	6	84199848	critical splice donor site	probably null
IGL00800:Dysf	APN	6	84149998	missense	probably damaging	1.00
IGL01069:Dysf	APN	6	84199785	missense	possibly damaging	0.94
IGL01094:Dysf	APN	6	84194386	missense	probably damaging	1.00
IGL01420:Dysf	APN	6	84149759	nonsense	probably null
IGL01649:Dysf	APN	6	84199839	missense	probably damaging	1.00
IGL01923:Dysf	APN	6	84210829	makesense	probably null
IGL01991:Dysf	APN	6	84113618	missense	probably damaging	1.00
IGL01999:Dysf	APN	6	84113618	missense	probably damaging	1.00
IGL02002:Dysf	APN	6	84210787	splice site	probably benign
IGL02136:Dysf	APN	6	84108167	missense	probably benign	0.43
IGL02318:Dysf	APN	6	84186464	missense	possibly damaging	0.50
IGL02378:Dysf	APN	6	84111905	missense	probably damaging	1.00
IGL02404:Dysf	APN	6	84116061	missense	probably damaging	1.00
IGL02416:Dysf	APN	6	84192914	missense	possibly damaging	0.92
IGL02535:Dysf	APN	6	84149697	missense	possibly damaging	0.45
IGL02553:Dysf	APN	6	84130127	missense	possibly damaging	0.95
IGL02559:Dysf	APN	6	84067446	splice site	probably benign
IGL02563:Dysf	APN	6	84186516	splice site	probably benign
IGL02647:Dysf	APN	6	84137373	missense	probably damaging	1.00
IGL02820:Dysf	APN	6	84100205	missense	probably damaging	0.99
IGL02858:Dysf	APN	6	84099489	missense	probably benign	0.01
IGL02860:Dysf	APN	6	84190898	critical splice donor site	probably null
IGL02861:Dysf	APN	6	84039537	missense	probably damaging	0.99
IGL03008:Dysf	APN	6	84073894	missense	probably benign	0.01
IGL03023:Dysf	APN	6	84193007	missense	probably damaging	1.00
IGL03074:Dysf	APN	6	84188226	missense	probably benign	0.25
IGL03342:Dysf	APN	6	84190872	missense	probably benign
PIT4305001:Dysf	UTSW	6	84100234	nonsense	probably null
R0067:Dysf	UTSW	6	84063331	missense	possibly damaging	0.58
R0106:Dysf	UTSW	6	84113336	missense	probably benign	0.07
R0106:Dysf	UTSW	6	84113336	missense	probably benign	0.07
R0124:Dysf	UTSW	6	84065102	splice site	probably benign
R0219:Dysf	UTSW	6	84129461	splice site	probably benign
R0238:Dysf	UTSW	6	84064479	nonsense	probably null
R0238:Dysf	UTSW	6	84064479	nonsense	probably null
R0239:Dysf	UTSW	6	84064479	nonsense	probably null
R0239:Dysf	UTSW	6	84064479	nonsense	probably null
R0426:Dysf	UTSW	6	84149757	missense	probably damaging	1.00
R0455:Dysf	UTSW	6	84140667	missense	probably benign	0.29
R0482:Dysf	UTSW	6	84152405	missense	probably benign	0.03
R0545:Dysf	UTSW	6	84099461	missense	probably damaging	0.99
R0625:Dysf	UTSW	6	84111987	splice site	probably null
R0676:Dysf	UTSW	6	84113336	missense	probably benign	0.07
R0699:Dysf	UTSW	6	84190846	missense	probably benign	0.00
R1165:Dysf	UTSW	6	84067069	missense	probably damaging	0.98
R1455:Dysf	UTSW	6	84113386	missense	probably benign	0.01
R1582:Dysf	UTSW	6	84097767	missense	probably damaging	1.00
R1584:Dysf	UTSW	6	84067047	missense	probably benign	0.04
R1605:Dysf	UTSW	6	84106941	missense	probably damaging	0.96
R1674:Dysf	UTSW	6	84179715	missense	probably benign	0.01
R1739:Dysf	UTSW	6	84112235	critical splice donor site	probably null
R1765:Dysf	UTSW	6	84190902	splice site	probably null
R1813:Dysf	UTSW	6	84151924	missense	possibly damaging	0.83
R1900:Dysf	UTSW	6	84039567	missense	probably damaging	0.97
R1960:Dysf	UTSW	6	84073903	missense	probably benign	0.12
R2216:Dysf	UTSW	6	84207245	splice site	probably null
R2242:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2243:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2245:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2246:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2280:Dysf	UTSW	6	84064494	missense	probably damaging	0.99
R2374:Dysf	UTSW	6	84097729	missense	probably damaging	1.00
R2403:Dysf	UTSW	6	84039567	missense	possibly damaging	0.84
R2763:Dysf	UTSW	6	84106932	missense	probably benign	0.00
R2895:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2916:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R2918:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3402:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3403:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3434:Dysf	UTSW	6	84070888	missense	probably benign	0.00
R3772:Dysf	UTSW	6	84152351	missense	possibly damaging	0.63
R3781:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3789:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3822:Dysf	UTSW	6	84207088	splice site	probably benign
R3918:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3919:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3939:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R3942:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R4177:Dysf	UTSW	6	84067031	nonsense	probably null
R4179:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R4180:Dysf	UTSW	6	84186509	critical splice donor site	probably null
R4299:Dysf	UTSW	6	84068077	missense	possibly damaging	0.78
R4419:Dysf	UTSW	6	84207242	critical splice donor site	probably null
R4446:Dysf	UTSW	6	84205872	missense	probably damaging	1.00
R4577:Dysf	UTSW	6	84137326	missense	probably damaging	1.00
R4680:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4708:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4709:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4710:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4725:Dysf	UTSW	6	84097756	missense	probably damaging	1.00
R4742:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4743:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4749:Dysf	UTSW	6	84067008	missense	probably damaging	1.00
R4787:Dysf	UTSW	6	84203328	nonsense	probably null
R4850:Dysf	UTSW	6	84097715	missense	probably damaging	0.99
R4868:Dysf	UTSW	6	84179693	missense	probably damaging	1.00
R4871:Dysf	UTSW	6	84067023	missense	possibly damaging	0.93
R4951:Dysf	UTSW	6	84114120	critical splice donor site	probably null
R4952:Dysf	UTSW	6	84149986	missense	possibly damaging	0.79
R5009:Dysf	UTSW	6	84151986	missense	probably damaging	1.00
R5072:Dysf	UTSW	6	84137272	missense	probably damaging	1.00
R5073:Dysf	UTSW	6	84137272	missense	probably damaging	1.00
R5074:Dysf	UTSW	6	84137272	missense	probably damaging	1.00
R5252:Dysf	UTSW	6	84186468	missense	probably damaging	0.98
R5260:Dysf	UTSW	6	84150034	missense	probably damaging	1.00
R5447:Dysf	UTSW	6	84195263	missense	probably damaging	0.98
R5501:Dysf	UTSW	6	84087818	missense	probably damaging	0.99
R5533:Dysf	UTSW	6	84186471	missense	probably damaging	0.99
R5611:Dysf	UTSW	6	84064878	missense	probably damaging	0.98
R5618:Dysf	UTSW	6	84106824	missense	probably benign	0.03
R5884:Dysf	UTSW	6	84186081	missense	probably damaging	1.00
R5927:Dysf	UTSW	6	84207212	missense	probably damaging	1.00
R6045:Dysf	UTSW	6	84114072	missense	probably damaging	0.99
R6056:Dysf	UTSW	6	84106862	missense	probably benign
R6084:Dysf	UTSW	6	84019604	missense	probably damaging	0.98
R6084:Dysf	UTSW	6	84112119	missense	probably damaging	1.00
R6146:Dysf	UTSW	6	84203199	missense	probably damaging	0.96
R6220:Dysf	UTSW	6	84149745	missense	probably damaging	0.97
R6232:Dysf	UTSW	6	84098253	missense	probably benign	0.26
R6247:Dysf	UTSW	6	84066999	missense	probably damaging	1.00
R6298:Dysf	UTSW	6	84107136	splice site	probably null
R6306:Dysf	UTSW	6	84137266	missense	possibly damaging	0.91
R6377:Dysf	UTSW	6	84008963	missense	probably benign
R6415:Dysf	UTSW	6	84140042	missense	probably damaging	1.00
R6444:Dysf	UTSW	6	84190840	missense	probably benign	0.36
R6470:Dysf	UTSW	6	84066944	missense	possibly damaging	0.93
R6504:Dysf	UTSW	6	84008925	missense	probably benign	0.03
R6557:Dysf	UTSW	6	84186384	missense	probably damaging	0.99
R6665:Dysf	UTSW	6	84130116	missense	probably benign
R6701:Dysf	UTSW	6	84112190	missense	probably damaging	1.00
R6776:Dysf	UTSW	6	84064894	missense	possibly damaging	0.88
R6909:Dysf	UTSW	6	84192938	missense	probably damaging	1.00
R7007:Dysf	UTSW	6	84113980	missense	probably damaging	1.00
R7013:Dysf	UTSW	6	84137358	missense	probably damaging	1.00
R7035:Dysf	UTSW	6	84186392	missense	probably benign	0.02
R7094:Dysf	UTSW	6	84100202	missense	probably benign	0.43
R7124:Dysf	UTSW	6	84190901	splice site	probably null
R7156:Dysf	UTSW	6	84087876	critical splice donor site	probably null
R7261:Dysf	UTSW	6	84193010	missense	probably damaging	0.98
R7296:Dysf	UTSW	6	84106898	missense	probably benign	0.33
R7356:Dysf	UTSW	6	84067461	missense	probably damaging	1.00
R7359:Dysf	UTSW	6	84195324	splice site	probably null
R7384:Dysf	UTSW	6	84114105	missense	probably benign	0.17
R7409:Dysf	UTSW	6	84149682	missense	probably benign	0.00
R7449:Dysf	UTSW	6	84137380	missense	possibly damaging	0.90
R7476:Dysf	UTSW	6	84064896	missense	probably benign	0.08
R7496:Dysf	UTSW	6	84067478	missense	probably benign	0.43
R7573:Dysf	UTSW	6	84130122	missense	possibly damaging	0.59
R7616:Dysf	UTSW	6	84101963	missense	probably benign	0.01
R7808:Dysf	UTSW	6	84070929	missense	possibly damaging	0.86
R7836:Dysf	UTSW	6	84137398	missense	probably damaging	1.00
R7868:Dysf	UTSW	6	84114099	missense	probably benign	0.00
R7873:Dysf	UTSW	6	84083765	missense	probably benign
R7956:Dysf	UTSW	6	84008996	missense	probably benign	0.01
R8130:Dysf	UTSW	6	84137376	missense	probably damaging	0.97
R8357:Dysf	UTSW	6	84188245	missense	probably benign	0.01
R8383:Dysf	UTSW	6	84019583	missense	probably damaging	1.00
R8457:Dysf	UTSW	6	84188245	missense	probably benign	0.01
R8693:Dysf	UTSW	6	84111970	missense	probably damaging	1.00
R8738:Dysf	UTSW	6	84194371	missense	probably damaging	1.00
R8808:Dysf	UTSW	6	84019484	start gained	probably benign
R8836:Dysf	UTSW	6	84116123	missense	probably damaging	1.00
R8915:Dysf	UTSW	6	84179754	missense	probably benign
R8959:Dysf	UTSW	6	84101963	missense	probably benign	0.01
R9091:Dysf	UTSW	6	84100234	nonsense	probably null
R9095:Dysf	UTSW	6	84179684	missense	probably benign	0.01
R9162:Dysf	UTSW	6	84112233	missense	probably damaging	1.00
R9164:Dysf	UTSW	6	84203326	missense	probably damaging	1.00
R9166:Dysf	UTSW	6	84149977	missense	probably damaging	1.00
R9173:Dysf	UTSW	6	84194397	missense	probably benign	0.10
R9191:Dysf	UTSW	6	84068066	missense	probably benign	0.43
R9270:Dysf	UTSW	6	84100234	nonsense	probably null
R9328:Dysf	UTSW	6	84073913	missense	probably damaging	1.00
R9470:Dysf	UTSW	6	84113370	missense	possibly damaging	0.59
R9509:Dysf	UTSW	6	84210797	missense	probably damaging	0.98
R9511:Dysf	UTSW	6	84113668	missense	probably damaging	1.00
R9526:Dysf	UTSW	6	84151903	missense	probably damaging	0.99
R9751:Dysf	UTSW	6	84186468	missense	probably damaging	0.98
X0063:Dysf	UTSW	6	84063354	missense	probably damaging	0.97
X0066:Dysf	UTSW	6	84114102	missense	possibly damaging	0.77
Z1176:Dysf	UTSW	6	84072685	missense	probably damaging	1.00
Z1177:Dysf	UTSW	6	84064523	missense	probably benign
Z1177:Dysf	UTSW	6	84087817	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ATGTGAGAGTCAGAGCACTCG -3'
(R):5'- ACAAGTCTGCCTGCACATCC -3'

Sequencing Primer
(F):5'- AGGCACCGTGCTTGGATC -3'
(R):5'- ACATCCTTCTGGCAGGGCTAG -3'

Posted On

2019-11-12