Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Myof'

597771

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

045815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37939898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1068 (A1068S)

Ref Sequence

ENSEMBL: ENSMUSP00000045036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000225159] [ENSMUST00000226068]

AlphaFold

Q69ZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000041475
AA Change: A1068S

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

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: A1068S

Domain	Start	End	E-Value	Type
C2	1	100	7.56e-16	SMART
low complexity region	142	159	N/A	INTRINSIC
C2	200	299	4.03e-11	SMART
FerI	282	353	2.76e-37	SMART
C2	359	473	2.93e-13	SMART
low complexity region	532	543	N/A	INTRINSIC
FerA	663	728	5.07e-27	SMART
FerB	755	829	2.39e-46	SMART
DysFN	843	901	6.42e-21	SMART
DysFN	914	970	1.16e-18	SMART
DysFC	979	1017	1.04e-11	SMART
DysFC	1037	1070	1.62e-8	SMART
C2	1127	1234	5.03e-12	SMART
C2	1289	1396	1.15e1	SMART
low complexity region	1425	1436	N/A	INTRINSIC
low complexity region	1515	1526	N/A	INTRINSIC
C2	1541	1640	2.66e-11	SMART
C2	1776	1905	2.81e-1	SMART
Pfam:Ferlin_C	1939	2043	2.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172095
AA Change: A1068S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: A1068S

Domain	Start	End	E-Value	Type
C2	1	100	7.56e-16	SMART
low complexity region	142	159	N/A	INTRINSIC
C2	200	299	4.03e-11	SMART
FerI	282	353	2.76e-37	SMART
C2	359	473	2.93e-13	SMART
low complexity region	532	543	N/A	INTRINSIC
FerA	663	728	5.07e-27	SMART
FerB	755	829	2.39e-46	SMART
DysFN	843	901	6.42e-21	SMART
DysFN	914	970	1.16e-18	SMART
DysFC	979	1017	1.04e-11	SMART
DysFC	1037	1070	1.62e-8	SMART
C2	1127	1234	5.03e-12	SMART
C2	1289	1396	1.15e1	SMART
low complexity region	1515	1526	N/A	INTRINSIC
C2	1541	1640	2.66e-11	SMART
C2	1776	1905	2.81e-1	SMART
transmembrane domain	2013	2035	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225159
AA Change: A552S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: A1081S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650 (GRCm38)	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795 (GRCm38)	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117 (GRCm38)	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833 (GRCm38)	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196 (GRCm38)	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515 (GRCm38)	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975 (GRCm38)	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802 (GRCm38)	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785 (GRCm38)	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326 (GRCm38)	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188 (GRCm38)	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036 (GRCm38)	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931 (GRCm38)	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550 (GRCm38)		probably null	Het
Csmd3	A	G	15: 47,698,173 (GRCm38)	S1336P		Het
Cubn	A	G	2: 13,348,150 (GRCm38)	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104 (GRCm38)	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736 (GRCm38)	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840 (GRCm38)	Y504*	probably null	Het
Enah	G	A	1: 181,918,444 (GRCm38)	A687V	unknown	Het
Endou	A	C	15: 97,713,866 (GRCm38)	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605 (GRCm38)	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519 (GRCm38)	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567 (GRCm38)	C219*	probably null	Het
Fscb	A	T	12: 64,474,092 (GRCm38)	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681 (GRCm38)	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742 (GRCm38)	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400 (GRCm38)	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256 (GRCm38)	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710 (GRCm38)	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944 (GRCm38)	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593 (GRCm38)	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027 (GRCm38)	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358 (GRCm38)	V1293E	probably damaging	Het
Ncam2	A	G	16: 81,615,784 (GRCm38)	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251 (GRCm38)	G435V		Het
Oacyl	T	A	18: 65,710,560 (GRCm38)	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636 (GRCm38)	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025 (GRCm38)	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198 (GRCm38)	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926 (GRCm38)	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113 (GRCm38)	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884 (GRCm38)	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351 (GRCm38)		probably null	Het
Scn10a	C	T	9: 119,648,132 (GRCm38)	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364 (GRCm38)	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876 (GRCm38)	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551 (GRCm38)	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633 (GRCm38)	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530 (GRCm38)	K881*	probably null	Het
Strn4	A	G	7: 16,830,384 (GRCm38)	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927 (GRCm38)	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839 (GRCm38)	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059 (GRCm38)	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835 (GRCm38)	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539 (GRCm38)	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258 (GRCm38)		probably null	Het
Ubr2	G	A	17: 46,986,048 (GRCm38)	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725 (GRCm38)	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080 (GRCm38)	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452 (GRCm38)	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461 (GRCm38)	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433 (GRCm38)	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380 (GRCm38)	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570 (GRCm38)	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189 (GRCm38)	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376 (GRCm38)	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414 (GRCm38)	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083 (GRCm38)	D248G	probably benign	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Myof	APN	19	37,960,934 (GRCm38)	missense	probably benign	0.16
IGL00764:Myof	APN	19	37,974,923 (GRCm38)	missense	probably benign	0.04
IGL00801:Myof	APN	19	37,986,073 (GRCm38)	missense	probably damaging	0.99
IGL01084:Myof	APN	19	37,936,436 (GRCm38)	missense	probably damaging	1.00
IGL01368:Myof	APN	19	37,936,457 (GRCm38)	missense	probably damaging	0.97
IGL01472:Myof	APN	19	37,923,076 (GRCm38)	missense	probably benign
IGL01785:Myof	APN	19	37,980,423 (GRCm38)	nonsense	probably null
IGL02205:Myof	APN	19	37,924,635 (GRCm38)	missense	probably damaging	1.00
IGL02268:Myof	APN	19	37,974,863 (GRCm38)	missense	possibly damaging	0.90
IGL02268:Myof	APN	19	37,954,429 (GRCm38)	missense	possibly damaging	0.50
IGL02339:Myof	APN	19	37,972,213 (GRCm38)	missense	possibly damaging	0.46
IGL02433:Myof	APN	19	37,972,193 (GRCm38)	missense	probably benign	0.05
IGL02481:Myof	APN	19	37,937,913 (GRCm38)	nonsense	probably null
IGL02536:Myof	APN	19	37,949,655 (GRCm38)	missense	probably damaging	0.97
IGL02682:Myof	APN	19	37,921,481 (GRCm38)	missense	probably benign	0.09
IGL02732:Myof	APN	19	37,977,716 (GRCm38)	missense	possibly damaging	0.50
IGL02887:Myof	APN	19	37,920,779 (GRCm38)	critical splice acceptor site	probably null
IGL03114:Myof	APN	19	37,903,861 (GRCm38)	missense	probably damaging	1.00
IGL03137:Myof	APN	19	37,974,889 (GRCm38)	missense	probably damaging	1.00
IGL03340:Myof	APN	19	37,911,159 (GRCm38)	missense	probably damaging	1.00
PIT4791001:Myof	UTSW	19	37,982,958 (GRCm38)	critical splice donor site	probably null
R0024:Myof	UTSW	19	37,915,740 (GRCm38)	missense	probably damaging	0.98
R0140:Myof	UTSW	19	37,951,556 (GRCm38)	nonsense	probably null
R0309:Myof	UTSW	19	37,981,266 (GRCm38)	missense	probably benign	0.12
R0330:Myof	UTSW	19	37,935,878 (GRCm38)	missense	probably damaging	1.00
R0345:Myof	UTSW	19	38,024,345 (GRCm38)	missense	probably damaging	1.00
R0349:Myof	UTSW	19	37,910,969 (GRCm38)	missense	probably damaging	0.99
R0463:Myof	UTSW	19	37,916,504 (GRCm38)	missense	probably damaging	1.00
R0507:Myof	UTSW	19	37,901,277 (GRCm38)	missense	possibly damaging	0.94
R0512:Myof	UTSW	19	37,954,524 (GRCm38)	missense	possibly damaging	0.54
R0608:Myof	UTSW	19	37,916,504 (GRCm38)	missense	probably damaging	1.00
R0723:Myof	UTSW	19	37,981,260 (GRCm38)	missense	probably damaging	1.00
R1081:Myof	UTSW	19	37,986,088 (GRCm38)	missense	probably damaging	0.99
R1196:Myof	UTSW	19	37,910,960 (GRCm38)	missense	probably damaging	1.00
R1243:Myof	UTSW	19	37,936,092 (GRCm38)	missense	probably damaging	1.00
R1371:Myof	UTSW	19	37,903,668 (GRCm38)	splice site	probably benign
R1381:Myof	UTSW	19	37,995,485 (GRCm38)	missense	probably damaging	1.00
R1419:Myof	UTSW	19	37,901,911 (GRCm38)	missense	probably damaging	1.00
R1527:Myof	UTSW	19	37,924,619 (GRCm38)	missense	probably damaging	1.00
R1672:Myof	UTSW	19	37,943,479 (GRCm38)	missense	probably damaging	1.00
R1864:Myof	UTSW	19	37,986,705 (GRCm38)	missense	probably benign
R1914:Myof	UTSW	19	37,977,693 (GRCm38)	missense	probably damaging	1.00
R1915:Myof	UTSW	19	37,977,693 (GRCm38)	missense	probably damaging	1.00
R1970:Myof	UTSW	19	37,945,634 (GRCm38)	missense	probably damaging	0.99
R2062:Myof	UTSW	19	37,915,746 (GRCm38)	missense	possibly damaging	0.94
R2144:Myof	UTSW	19	37,981,221 (GRCm38)	critical splice donor site	probably null
R2243:Myof	UTSW	19	37,901,319 (GRCm38)	missense	probably damaging	1.00
R2339:Myof	UTSW	19	37,937,927 (GRCm38)	missense	probably damaging	1.00
R2484:Myof	UTSW	19	37,903,843 (GRCm38)	missense	probably benign	0.13
R2880:Myof	UTSW	19	37,923,025 (GRCm38)	missense	probably benign	0.04
R3418:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R3967:Myof	UTSW	19	38,022,610 (GRCm38)	missense	possibly damaging	0.59
R3967:Myof	UTSW	19	37,901,263 (GRCm38)	missense	probably damaging	1.00
R3970:Myof	UTSW	19	38,022,610 (GRCm38)	missense	possibly damaging	0.59
R3970:Myof	UTSW	19	37,901,263 (GRCm38)	missense	probably damaging	1.00
R4238:Myof	UTSW	19	37,923,008 (GRCm38)	nonsense	probably null
R4405:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4406:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4407:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4408:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4561:Myof	UTSW	19	37,922,990 (GRCm38)	missense	probably benign
R4606:Myof	UTSW	19	37,967,099 (GRCm38)	missense	probably damaging	1.00
R4778:Myof	UTSW	19	37,949,563 (GRCm38)	missense	probably damaging	1.00
R4801:Myof	UTSW	19	37,945,738 (GRCm38)	missense	probably benign	0.24
R4802:Myof	UTSW	19	37,945,738 (GRCm38)	missense	probably benign	0.24
R4812:Myof	UTSW	19	37,916,559 (GRCm38)	missense	probably damaging	1.00
R4884:Myof	UTSW	19	37,942,357 (GRCm38)	missense	probably damaging	1.00
R4964:Myof	UTSW	19	37,935,852 (GRCm38)	missense	probably damaging	0.97
R4966:Myof	UTSW	19	37,935,852 (GRCm38)	missense	probably damaging	0.97
R5069:Myof	UTSW	19	37,905,325 (GRCm38)	missense	possibly damaging	0.65
R5181:Myof	UTSW	19	37,932,623 (GRCm38)	missense	possibly damaging	0.95
R5376:Myof	UTSW	19	37,916,400 (GRCm38)	missense	probably damaging	1.00
R5384:Myof	UTSW	19	37,952,987 (GRCm38)	missense	probably damaging	0.98
R5543:Myof	UTSW	19	37,981,330 (GRCm38)	missense	probably benign	0.00
R5626:Myof	UTSW	19	37,922,990 (GRCm38)	missense	probably benign
R5865:Myof	UTSW	19	37,910,934 (GRCm38)	missense	probably damaging	1.00
R5919:Myof	UTSW	19	38,024,370 (GRCm38)	missense	possibly damaging	0.95
R5924:Myof	UTSW	19	37,982,973 (GRCm38)	missense	probably damaging	0.97
R5997:Myof	UTSW	19	37,905,299 (GRCm38)	missense	possibly damaging	0.90
R5999:Myof	UTSW	19	37,939,856 (GRCm38)	nonsense	probably null
R6039:Myof	UTSW	19	37,977,684 (GRCm38)	missense	probably damaging	1.00
R6039:Myof	UTSW	19	37,977,684 (GRCm38)	missense	probably damaging	1.00
R6041:Myof	UTSW	19	37,924,620 (GRCm38)	missense	probably damaging	1.00
R6051:Myof	UTSW	19	38,024,361 (GRCm38)	missense	probably damaging	1.00
R6057:Myof	UTSW	19	37,926,981 (GRCm38)	critical splice donor site	probably null
R6089:Myof	UTSW	19	37,967,060 (GRCm38)	missense	probably benign	0.37
R6195:Myof	UTSW	19	37,913,357 (GRCm38)	missense	possibly damaging	0.89
R6478:Myof	UTSW	19	37,903,831 (GRCm38)	missense	probably damaging	1.00
R6545:Myof	UTSW	19	37,942,297 (GRCm38)	missense	possibly damaging	0.67
R6655:Myof	UTSW	19	37,934,791 (GRCm38)	missense	probably damaging	1.00
R6715:Myof	UTSW	19	37,968,346 (GRCm38)	missense	probably benign	0.04
R6737:Myof	UTSW	19	37,943,514 (GRCm38)	missense	probably benign	0.01
R6837:Myof	UTSW	19	37,922,956 (GRCm38)	critical splice donor site	probably null
R7096:Myof	UTSW	19	37,936,200 (GRCm38)	missense	probably damaging	1.00
R7308:Myof	UTSW	19	37,910,911 (GRCm38)	missense	probably damaging	0.98
R7328:Myof	UTSW	19	37,916,399 (GRCm38)	missense	probably damaging	1.00
R7485:Myof	UTSW	19	37,951,491 (GRCm38)	nonsense	probably null
R7554:Myof	UTSW	19	37,954,510 (GRCm38)	missense	probably benign	0.09
R7779:Myof	UTSW	19	37,939,390 (GRCm38)	missense	probably damaging	1.00
R8116:Myof	UTSW	19	37,932,719 (GRCm38)	missense	probably damaging	0.99
R8264:Myof	UTSW	19	37,921,433 (GRCm38)	missense	probably damaging	1.00
R8415:Myof	UTSW	19	37,995,424 (GRCm38)	missense	probably benign
R8756:Myof	UTSW	19	37,939,952 (GRCm38)	missense	probably benign
R8777:Myof	UTSW	19	37,980,393 (GRCm38)	missense	probably benign	0.01
R8777-TAIL:Myof	UTSW	19	37,980,393 (GRCm38)	missense	probably benign	0.01
R8835:Myof	UTSW	19	37,967,099 (GRCm38)	missense	possibly damaging	0.92
R9046:Myof	UTSW	19	37,934,664 (GRCm38)	intron	probably benign
R9396:Myof	UTSW	19	37,934,846 (GRCm38)	missense	probably damaging	1.00
R9415:Myof	UTSW	19	37,952,964 (GRCm38)	missense	probably damaging	1.00
R9450:Myof	UTSW	19	37,960,926 (GRCm38)	missense	probably damaging	1.00
R9451:Myof	UTSW	19	37,977,648 (GRCm38)	critical splice donor site	probably null
R9537:Myof	UTSW	19	37,907,606 (GRCm38)	missense	probably damaging	1.00
R9592:Myof	UTSW	19	38,043,289 (GRCm38)	missense	probably damaging	0.99
R9616:Myof	UTSW	19	37,934,815 (GRCm38)	missense	possibly damaging	0.52
R9751:Myof	UTSW	19	37,936,370 (GRCm38)	missense	probably benign
X0024:Myof	UTSW	19	37,974,597 (GRCm38)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACTCAGGCCGTACATCTTTC -3'
(R):5'- TTTGTCCATTGGCCAACTGG -3'

Sequencing Primer
(F):5'- CCCAACATCTTTGCAGCTGTGAG -3'
(R):5'- GGCCAACTGGTCTACTTTATCAATAG -3'

Posted On

2019-11-26