Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00743:Myof'

12194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

E030042N20Rik, 2310051D19Rik, Fer1l3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

37887484-38032025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37949382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 608 (R608L)

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: R608L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: R608L

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: R608L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: R608L

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: ENSMUST00000225159
AA Change: R92L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: R621L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,461,606 (GRCm39)	E659G	probably benign	Het
Adgrg6	A	C	10: 14,411,703 (GRCm39)		probably benign	Het
Als2cl	A	G	9: 110,718,227 (GRCm39)	K323E	possibly damaging	Het
Atm	A	C	9: 53,424,416 (GRCm39)	S628R	probably benign	Het
Baz2a	T	C	10: 127,950,395 (GRCm39)	V443A	probably benign	Het
Bclaf3	T	A	X: 158,341,357 (GRCm39)	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196 (GRCm39)	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,278,501 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 104,875,153 (GRCm39)	T312A	probably benign	Het
Chrnd	G	A	1: 87,120,649 (GRCm39)	W91*	probably null	Het
Cntln	T	C	4: 84,897,652 (GRCm39)	F413S	probably benign	Het
Ctsq	A	T	13: 61,183,998 (GRCm39)	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,736 (GRCm39)	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,039,979 (GRCm39)	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hps6	A	T	19: 45,992,099 (GRCm39)	D12V	probably damaging	Het
Hpse	T	C	5: 100,846,865 (GRCm39)	D188G	probably benign	Het
Id2	C	A	12: 25,145,355 (GRCm39)	E123*	probably null	Het
Ints10	C	T	8: 69,271,985 (GRCm39)	P562L	probably damaging	Het
Kctd10	G	A	5: 114,505,410 (GRCm39)	R195C	probably damaging	Het
Kel	A	C	6: 41,665,509 (GRCm39)	L537R	probably damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Lrrtm3	A	T	10: 63,924,988 (GRCm39)	S60T	probably damaging	Het
Naa35	A	T	13: 59,778,485 (GRCm39)	I669F	probably benign	Het
Or8g2b	A	T	9: 39,751,002 (GRCm39)	I91F	probably benign	Het
Or8g53	A	G	9: 39,683,407 (GRCm39)	S230P	possibly damaging	Het
Pclo	G	T	5: 14,728,035 (GRCm39)		probably benign	Het
Pik3c3	C	T	18: 30,407,417 (GRCm39)	S55F	probably damaging	Het
Prdm6	T	G	18: 53,673,300 (GRCm39)	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,346,610 (GRCm39)	T63A	probably benign	Het
Samd4b	A	C	7: 28,101,302 (GRCm39)	I108S	probably damaging	Het
Slc9a7	T	C	X: 19,972,260 (GRCm39)	D708G	possibly damaging	Het
Stim2	A	G	5: 54,210,835 (GRCm39)	D90G	probably benign	Het
Tmem52b	A	G	6: 129,493,678 (GRCm39)	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,652,518 (GRCm39)	R98G	probably benign	Het
Uxs1	C	T	1: 43,796,173 (GRCm39)	V310I	probably benign	Het
Vcan	A	C	13: 89,873,425 (GRCm39)	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,546,504 (GRCm39)	F792S	probably damaging	Het
Zfp455	T	C	13: 67,355,962 (GRCm39)	I345T	probably benign	Het
Zfp938	A	T	10: 82,062,317 (GRCm39)	M101K	probably benign	Het
Zkscan2	A	G	7: 123,079,195 (GRCm39)	S921P	probably damaging	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Myof	APN	19	37,963,371 (GRCm39)	missense	probably benign	0.04
IGL00801:Myof	APN	19	37,974,521 (GRCm39)	missense	probably damaging	0.99
IGL01084:Myof	APN	19	37,924,884 (GRCm39)	missense	probably damaging	1.00
IGL01368:Myof	APN	19	37,924,905 (GRCm39)	missense	probably damaging	0.97
IGL01472:Myof	APN	19	37,911,524 (GRCm39)	missense	probably benign
IGL01785:Myof	APN	19	37,968,871 (GRCm39)	nonsense	probably null
IGL02205:Myof	APN	19	37,913,083 (GRCm39)	missense	probably damaging	1.00
IGL02268:Myof	APN	19	37,963,311 (GRCm39)	missense	possibly damaging	0.90
IGL02268:Myof	APN	19	37,942,877 (GRCm39)	missense	possibly damaging	0.50
IGL02339:Myof	APN	19	37,960,661 (GRCm39)	missense	possibly damaging	0.46
IGL02433:Myof	APN	19	37,960,641 (GRCm39)	missense	probably benign	0.05
IGL02481:Myof	APN	19	37,926,361 (GRCm39)	nonsense	probably null
IGL02536:Myof	APN	19	37,938,103 (GRCm39)	missense	probably damaging	0.97
IGL02682:Myof	APN	19	37,909,929 (GRCm39)	missense	probably benign	0.09
IGL02732:Myof	APN	19	37,966,164 (GRCm39)	missense	possibly damaging	0.50
IGL02887:Myof	APN	19	37,909,227 (GRCm39)	critical splice acceptor site	probably null
IGL03114:Myof	APN	19	37,892,309 (GRCm39)	missense	probably damaging	1.00
IGL03137:Myof	APN	19	37,963,337 (GRCm39)	missense	probably damaging	1.00
IGL03340:Myof	APN	19	37,899,607 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Myof	UTSW	19	37,971,406 (GRCm39)	critical splice donor site	probably null
R0024:Myof	UTSW	19	37,904,188 (GRCm39)	missense	probably damaging	0.98
R0140:Myof	UTSW	19	37,940,004 (GRCm39)	nonsense	probably null
R0309:Myof	UTSW	19	37,969,714 (GRCm39)	missense	probably benign	0.12
R0330:Myof	UTSW	19	37,924,326 (GRCm39)	missense	probably damaging	1.00
R0345:Myof	UTSW	19	38,012,793 (GRCm39)	missense	probably damaging	1.00
R0349:Myof	UTSW	19	37,899,417 (GRCm39)	missense	probably damaging	0.99
R0463:Myof	UTSW	19	37,904,952 (GRCm39)	missense	probably damaging	1.00
R0507:Myof	UTSW	19	37,889,725 (GRCm39)	missense	possibly damaging	0.94
R0512:Myof	UTSW	19	37,942,972 (GRCm39)	missense	possibly damaging	0.54
R0608:Myof	UTSW	19	37,904,952 (GRCm39)	missense	probably damaging	1.00
R0723:Myof	UTSW	19	37,969,708 (GRCm39)	missense	probably damaging	1.00
R1081:Myof	UTSW	19	37,974,536 (GRCm39)	missense	probably damaging	0.99
R1196:Myof	UTSW	19	37,899,408 (GRCm39)	missense	probably damaging	1.00
R1243:Myof	UTSW	19	37,924,540 (GRCm39)	missense	probably damaging	1.00
R1371:Myof	UTSW	19	37,892,116 (GRCm39)	splice site	probably benign
R1381:Myof	UTSW	19	37,983,933 (GRCm39)	missense	probably damaging	1.00
R1419:Myof	UTSW	19	37,890,359 (GRCm39)	missense	probably damaging	1.00
R1527:Myof	UTSW	19	37,913,067 (GRCm39)	missense	probably damaging	1.00
R1672:Myof	UTSW	19	37,931,927 (GRCm39)	missense	probably damaging	1.00
R1864:Myof	UTSW	19	37,975,153 (GRCm39)	missense	probably benign
R1914:Myof	UTSW	19	37,966,141 (GRCm39)	missense	probably damaging	1.00
R1915:Myof	UTSW	19	37,966,141 (GRCm39)	missense	probably damaging	1.00
R1970:Myof	UTSW	19	37,934,082 (GRCm39)	missense	probably damaging	0.99
R2062:Myof	UTSW	19	37,904,194 (GRCm39)	missense	possibly damaging	0.94
R2144:Myof	UTSW	19	37,969,669 (GRCm39)	critical splice donor site	probably null
R2243:Myof	UTSW	19	37,889,767 (GRCm39)	missense	probably damaging	1.00
R2339:Myof	UTSW	19	37,926,375 (GRCm39)	missense	probably damaging	1.00
R2484:Myof	UTSW	19	37,892,291 (GRCm39)	missense	probably benign	0.13
R2880:Myof	UTSW	19	37,911,473 (GRCm39)	missense	probably benign	0.04
R3418:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R3967:Myof	UTSW	19	38,011,058 (GRCm39)	missense	possibly damaging	0.59
R3967:Myof	UTSW	19	37,889,711 (GRCm39)	missense	probably damaging	1.00
R3970:Myof	UTSW	19	38,011,058 (GRCm39)	missense	possibly damaging	0.59
R3970:Myof	UTSW	19	37,889,711 (GRCm39)	missense	probably damaging	1.00
R4238:Myof	UTSW	19	37,911,456 (GRCm39)	nonsense	probably null
R4405:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4406:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4407:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4408:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4561:Myof	UTSW	19	37,911,438 (GRCm39)	missense	probably benign
R4606:Myof	UTSW	19	37,955,547 (GRCm39)	missense	probably damaging	1.00
R4778:Myof	UTSW	19	37,938,011 (GRCm39)	missense	probably damaging	1.00
R4801:Myof	UTSW	19	37,934,186 (GRCm39)	missense	probably benign	0.24
R4802:Myof	UTSW	19	37,934,186 (GRCm39)	missense	probably benign	0.24
R4812:Myof	UTSW	19	37,905,007 (GRCm39)	missense	probably damaging	1.00
R4884:Myof	UTSW	19	37,930,805 (GRCm39)	missense	probably damaging	1.00
R4964:Myof	UTSW	19	37,924,300 (GRCm39)	missense	probably damaging	0.97
R4966:Myof	UTSW	19	37,924,300 (GRCm39)	missense	probably damaging	0.97
R5069:Myof	UTSW	19	37,893,773 (GRCm39)	missense	possibly damaging	0.65
R5181:Myof	UTSW	19	37,921,071 (GRCm39)	missense	possibly damaging	0.95
R5376:Myof	UTSW	19	37,904,848 (GRCm39)	missense	probably damaging	1.00
R5384:Myof	UTSW	19	37,941,435 (GRCm39)	missense	probably damaging	0.98
R5543:Myof	UTSW	19	37,969,778 (GRCm39)	missense	probably benign	0.00
R5626:Myof	UTSW	19	37,911,438 (GRCm39)	missense	probably benign
R5865:Myof	UTSW	19	37,899,382 (GRCm39)	missense	probably damaging	1.00
R5919:Myof	UTSW	19	38,012,818 (GRCm39)	missense	possibly damaging	0.95
R5924:Myof	UTSW	19	37,971,421 (GRCm39)	missense	probably damaging	0.97
R5997:Myof	UTSW	19	37,893,747 (GRCm39)	missense	possibly damaging	0.90
R5999:Myof	UTSW	19	37,928,304 (GRCm39)	nonsense	probably null
R6039:Myof	UTSW	19	37,966,132 (GRCm39)	missense	probably damaging	1.00
R6039:Myof	UTSW	19	37,966,132 (GRCm39)	missense	probably damaging	1.00
R6041:Myof	UTSW	19	37,913,068 (GRCm39)	missense	probably damaging	1.00
R6051:Myof	UTSW	19	38,012,809 (GRCm39)	missense	probably damaging	1.00
R6057:Myof	UTSW	19	37,915,429 (GRCm39)	critical splice donor site	probably null
R6089:Myof	UTSW	19	37,955,508 (GRCm39)	missense	probably benign	0.37
R6195:Myof	UTSW	19	37,901,805 (GRCm39)	missense	possibly damaging	0.89
R6478:Myof	UTSW	19	37,892,279 (GRCm39)	missense	probably damaging	1.00
R6545:Myof	UTSW	19	37,930,745 (GRCm39)	missense	possibly damaging	0.67
R6655:Myof	UTSW	19	37,923,239 (GRCm39)	missense	probably damaging	1.00
R6715:Myof	UTSW	19	37,956,794 (GRCm39)	missense	probably benign	0.04
R6737:Myof	UTSW	19	37,931,962 (GRCm39)	missense	probably benign	0.01
R6837:Myof	UTSW	19	37,911,404 (GRCm39)	critical splice donor site	probably null
R7096:Myof	UTSW	19	37,924,648 (GRCm39)	missense	probably damaging	1.00
R7308:Myof	UTSW	19	37,899,359 (GRCm39)	missense	probably damaging	0.98
R7328:Myof	UTSW	19	37,904,847 (GRCm39)	missense	probably damaging	1.00
R7485:Myof	UTSW	19	37,939,939 (GRCm39)	nonsense	probably null
R7554:Myof	UTSW	19	37,942,958 (GRCm39)	missense	probably benign	0.09
R7759:Myof	UTSW	19	37,928,346 (GRCm39)	missense	probably benign	0.00
R7779:Myof	UTSW	19	37,927,838 (GRCm39)	missense	probably damaging	1.00
R8116:Myof	UTSW	19	37,921,167 (GRCm39)	missense	probably damaging	0.99
R8264:Myof	UTSW	19	37,909,881 (GRCm39)	missense	probably damaging	1.00
R8415:Myof	UTSW	19	37,983,872 (GRCm39)	missense	probably benign
R8756:Myof	UTSW	19	37,928,400 (GRCm39)	missense	probably benign
R8777:Myof	UTSW	19	37,968,841 (GRCm39)	missense	probably benign	0.01
R8777-TAIL:Myof	UTSW	19	37,968,841 (GRCm39)	missense	probably benign	0.01
R8835:Myof	UTSW	19	37,955,547 (GRCm39)	missense	possibly damaging	0.92
R9046:Myof	UTSW	19	37,923,112 (GRCm39)	intron	probably benign
R9396:Myof	UTSW	19	37,923,294 (GRCm39)	missense	probably damaging	1.00
R9415:Myof	UTSW	19	37,941,412 (GRCm39)	missense	probably damaging	1.00
R9450:Myof	UTSW	19	37,949,374 (GRCm39)	missense	probably damaging	1.00
R9451:Myof	UTSW	19	37,966,096 (GRCm39)	critical splice donor site	probably null
R9537:Myof	UTSW	19	37,896,054 (GRCm39)	missense	probably damaging	1.00
R9592:Myof	UTSW	19	38,031,737 (GRCm39)	missense	probably damaging	0.99
R9616:Myof	UTSW	19	37,923,263 (GRCm39)	missense	possibly damaging	0.52
R9751:Myof	UTSW	19	37,924,818 (GRCm39)	missense	probably benign
X0024:Myof	UTSW	19	37,963,045 (GRCm39)	missense	probably benign	0.14

Posted On

2012-12-06