Mutagenetix > Incidental Mutation

Incidental Mutation 'R7956:Dysf'

649817

Institutional Source

Beutler Lab

Gene Symbol

Dysf

Ensembl Gene

ENSMUSG00000033788

Gene Name

dysferlin

Synonyms

2310004N10Rik

MMRRC Submission

046000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83985572-84188042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83985978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 28 (F28L)

Ref Sequence

ENSEMBL: ENSMUSP00000144970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113821] [ENSMUST00000113823] [ENSMUST00000153860] [ENSMUST00000168387] [ENSMUST00000203803] [ENSMUST00000204591]

AlphaFold

Q9ESD7

Predicted Effect

probably benign
Transcript: ENSMUST00000113821
AA Change: F28L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: F28L

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: F28L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: F28L

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
AA Change: F28L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: F28L

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: F28L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: F28L

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: ENSMUST00000203803
AA Change: F28L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: F28L

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: ENSMUST00000204591
AA Change: F28L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: F28L

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

0.1296

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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
5031439G07Rik	T	C	15: 84,834,963 (GRCm39)	S332G	possibly damaging	Het
Acaca	A	T	11: 84,211,406 (GRCm39)	N1573Y	probably damaging	Het
Arhgef33	A	G	17: 80,662,477 (GRCm39)	K220R	possibly damaging	Het
Arsj	A	T	3: 126,232,151 (GRCm39)	D299V	probably damaging	Het
Asic3	A	C	5: 24,621,975 (GRCm39)	I412L	possibly damaging	Het
AU018091	A	T	7: 3,211,095 (GRCm39)	L278Q	probably benign	Het
Baat	A	T	4: 49,490,117 (GRCm39)	F322L	probably damaging	Het
Bap1	A	G	14: 30,977,525 (GRCm39)	Q280R	probably benign	Het
Bet1	T	C	6: 4,079,965 (GRCm39)	E66G	probably benign	Het
Brpf1	T	C	6: 113,297,493 (GRCm39)	S1000P	probably benign	Het
Ccdc78	A	T	17: 26,006,091 (GRCm39)	E86D	possibly damaging	Het
Ccdc88a	T	G	11: 29,413,892 (GRCm39)	L810R	probably damaging	Het
Cd209f	T	C	8: 4,154,859 (GRCm39)	T80A	probably benign	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Cldn15	T	C	5: 137,003,504 (GRCm39)	S169P	probably damaging	Het
Cmklr2	T	C	1: 63,222,665 (GRCm39)	N190S	probably damaging	Het
Corin	A	G	5: 72,579,530 (GRCm39)	S281P	probably damaging	Het
Coro1a	A	G	7: 126,300,727 (GRCm39)	V200A	probably benign	Het
Crebrf	C	G	17: 26,961,631 (GRCm39)	P243A	probably benign	Het
Cxxc1	T	G	18: 74,352,054 (GRCm39)		probably null	Het
Dera	C	T	6: 137,813,826 (GRCm39)	T282M	probably benign	Het
Dnah12	A	T	14: 26,430,427 (GRCm39)	D345V	probably damaging	Het
Dop1b	T	C	16: 93,567,916 (GRCm39)		probably null	Het
Dst	T	A	1: 34,264,699 (GRCm39)	V2623E	probably damaging	Het
Eogt	C	A	6: 97,120,926 (GRCm39)	V96F	probably benign	Het
Exoc1	A	T	5: 76,705,704 (GRCm39)	T464S	probably benign	Het
Fam234a	A	G	17: 26,435,551 (GRCm39)	Y278H	probably damaging	Het
Gatd3a	T	C	10: 77,999,405 (GRCm39)		probably null	Het
Gne	T	A	4: 44,044,962 (GRCm39)	I391L	probably benign	Het
Gpr22	G	T	12: 31,759,219 (GRCm39)	T301K	possibly damaging	Het
Gria1	A	G	11: 57,080,626 (GRCm39)	D203G	possibly damaging	Het
Grin2c	T	C	11: 115,140,974 (GRCm39)	E1048G	probably benign	Het
Hcn4	A	G	9: 58,751,456 (GRCm39)	T361A	unknown	Het
Herc2	T	C	7: 55,763,148 (GRCm39)	S918P	probably damaging	Het
Hr	A	G	14: 70,797,327 (GRCm39)	E520G	probably benign	Het
Idi1	T	G	13: 8,937,996 (GRCm39)	S147R	possibly damaging	Het
Irf9	G	A	14: 55,846,481 (GRCm39)	G464E	probably benign	Het
Kif16b	T	C	2: 142,704,390 (GRCm39)	Y63C	probably benign	Het
Klhl31	A	T	9: 77,557,903 (GRCm39)	E206D	probably benign	Het
Lrch3	A	G	16: 32,806,377 (GRCm39)	M454V	probably null	Het
Lrp1b	A	C	2: 41,172,161 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,815,788 (GRCm39)	D1224G	possibly damaging	Het
Maf1	T	A	15: 76,236,696 (GRCm39)	F9L	probably benign	Het
Mllt10	T	A	2: 18,175,068 (GRCm39)	I542N	probably benign	Het
Mrpl19	T	C	6: 81,940,962 (GRCm39)	N143S	probably benign	Het
Myo5c	A	G	9: 75,159,845 (GRCm39)	N291S	probably benign	Het
Myocd	G	T	11: 65,160,494 (GRCm39)	L11M	possibly damaging	Het
Or2ag2	G	A	7: 106,485,178 (GRCm39)	T282I	possibly damaging	Het
Or5ac20	C	A	16: 59,104,856 (GRCm39)	M1I	probably null	Het
Or5an10	A	C	19: 12,275,666 (GRCm39)	F277V	probably damaging	Het
Otogl	T	C	10: 107,713,887 (GRCm39)	I511V	possibly damaging	Het
Phf19	T	C	2: 34,796,567 (GRCm39)	Y121C	possibly damaging	Het
Pik3c2a	T	C	7: 115,949,350 (GRCm39)	T1346A	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Polr2b	A	G	5: 77,468,092 (GRCm39)	T131A	probably benign	Het
Pom121	T	C	5: 135,412,815 (GRCm39)	T456A	unknown	Het
Pom121l2	T	C	13: 22,167,316 (GRCm39)	L529S	probably damaging	Het
Prss34	A	G	17: 25,518,553 (GRCm39)	I214V	probably benign	Het
Prss42	A	G	9: 110,628,402 (GRCm39)	Y182C	probably damaging	Het
Rapgef1	A	G	2: 29,589,027 (GRCm39)	I223V	probably benign	Het
Rbbp6	C	T	7: 122,600,561 (GRCm39)	P1523S	unknown	Het
Ripk1	T	G	13: 34,193,666 (GRCm39)	N9K	probably benign	Het
Six4	A	G	12: 73,150,535 (GRCm39)	L670S	possibly damaging	Het
Skint6	C	T	4: 112,703,894 (GRCm39)	D994N	possibly damaging	Het
Slc18a1	T	C	8: 69,491,466 (GRCm39)	D516G	probably benign	Het
Slc35g3	A	T	11: 69,651,623 (GRCm39)	Y121N	probably damaging	Het
Slc41a1	T	G	1: 131,771,766 (GRCm39)	S393R	possibly damaging	Het
Smg7	T	C	1: 152,719,953 (GRCm39)	H818R	probably benign	Het
Sorl1	A	G	9: 41,900,655 (GRCm39)	Y1686H	probably damaging	Het
Stab1	G	T	14: 30,881,981 (GRCm39)	T521K	probably benign	Het
Stard9	T	A	2: 120,535,852 (GRCm39)	Y4036*	probably null	Het
Tek	T	G	4: 94,687,580 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tgm1	T	A	14: 55,946,352 (GRCm39)	H428L	probably benign	Het
Tigd3	G	A	19: 5,942,594 (GRCm39)	P179S	possibly damaging	Het
Tnip3	T	A	6: 65,591,779 (GRCm39)		probably null	Het
Ttc1	A	G	11: 43,627,240 (GRCm39)		probably null	Het
Utp20	C	T	10: 88,618,476 (GRCm39)	E1175K	probably benign	Het
Vmn1r151	A	T	7: 22,199,085 (GRCm39)	S7T	possibly damaging	Het
Vmn1r34	T	A	6: 66,614,777 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,605,166 (GRCm39)	M494K	probably benign	Het
Vps26c	T	C	16: 94,302,505 (GRCm39)	N234D	probably damaging	Het
Vsig10l	T	C	7: 43,117,494 (GRCm39)	S594P	probably benign	Het
Zfp937	A	G	2: 150,081,076 (GRCm39)	S369G	probably benign	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	84,089,101 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTCCTCTTCAGGGCAACAC -3'
(R):5'- GCACAGTTGGGCCACTTCTATC -3'

Sequencing Primer
(F):5'- AGGGCAACACCTGTGAGC -3'
(R):5'- AGTTGGGCCACTTCTATCTCACAG -3'

Posted On

2020-09-15