Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02339:Myof'

288988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02339

Quality Score

Status

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37972213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 460 (Y460C)

Ref Sequence

ENSEMBL: ENSMUSP00000045036 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041475
AA Change: Y460C

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: Y460C

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: Y460C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: Y460C

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

noncoding transcript
Transcript: ENSMUST00000223650

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: Y460C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,739,465 (GRCm38)	S546P	probably damaging	Het
Aass	C	A	6: 23,093,966 (GRCm38)	V119F	probably damaging	Het
Abcg5	T	C	17: 84,673,604 (GRCm38)	I186V	possibly damaging	Het
B4gat1	G	A	19: 5,039,418 (GRCm38)	E148K	probably benign	Het
Ccr6	A	T	17: 8,256,253 (GRCm38)	T97S	probably benign	Het
Cd209f	A	C	8: 4,104,483 (GRCm38)		probably null	Het
Chst1	T	A	2: 92,613,577 (GRCm38)	D131E	possibly damaging	Het
Dennd4a	C	T	9: 64,842,561 (GRCm38)	R145*	probably null	Het
Dnah6	A	G	6: 73,101,898 (GRCm38)	Y2361H	probably benign	Het
Dpp6	C	T	5: 27,652,230 (GRCm38)	T333I	probably damaging	Het
Glt8d1	C	A	14: 31,008,810 (GRCm38)	T91K	probably damaging	Het
Gm4952	G	A	19: 12,626,911 (GRCm38)	R229Q	probably damaging	Het
Gm5117	T	C	8: 31,738,226 (GRCm38)		noncoding transcript	Het
Gp5	T	C	16: 30,309,190 (GRCm38)	E222G	probably damaging	Het
Herc2	T	A	7: 56,121,722 (GRCm38)	D1077E	probably benign	Het
Hfe	T	C	13: 23,704,390 (GRCm38)	E171G	probably damaging	Het
Hsp90b1	A	G	10: 86,701,814 (GRCm38)	V209A	probably damaging	Het
Ktn1	A	T	14: 47,683,378 (GRCm38)		probably benign	Het
Med13	T	C	11: 86,288,939 (GRCm38)	I1394M	probably benign	Het
Meioc	T	G	11: 102,668,448 (GRCm38)	S65R	probably benign	Het
Olfr1276	A	T	2: 111,257,243 (GRCm38)	T43S	probably benign	Het
Pms1	A	G	1: 53,275,165 (GRCm38)	Y74H	possibly damaging	Het
Ptprn2	A	C	12: 116,722,104 (GRCm38)	Q61P	probably damaging	Het
Rab29	A	G	1: 131,872,142 (GRCm38)	T152A	probably benign	Het
Rest	A	G	5: 77,275,288 (GRCm38)	H313R	probably damaging	Het
Slc9a5	T	C	8: 105,358,459 (GRCm38)	Y531H	probably damaging	Het
St3gal3	T	C	4: 117,958,562 (GRCm38)	T148A	probably damaging	Het
Stxbp5	C	T	10: 9,816,297 (GRCm38)	V368I	possibly damaging	Het
Taf1c	T	C	8: 119,604,280 (GRCm38)	D33G	probably damaging	Het
Trim38	G	A	13: 23,788,230 (GRCm38)	R178Q	probably damaging	Het
Uvssa	A	T	5: 33,414,849 (GRCm38)	K704N	probably damaging	Het
Vmn1r69	G	A	7: 10,580,718 (GRCm38)	Q29*	probably null	Het
Ypel2	T	C	11: 86,940,603 (GRCm38)	D119G	possibly damaging	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
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
R7759:Myof	UTSW	19	37,939,898 (GRCm38)	missense	probably benign	0.00
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

Posted On

2015-04-16