Mutagenetix > Incidental Mutation

Incidental Mutation 'R5865:Myof'

454152

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

E030042N20Rik, 2310051D19Rik, Fer1l3

MMRRC Submission

044074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37887484-38032025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37899382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1793 (S1793G)

Ref Sequence

ENSEMBL: ENSMUSP00000045036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000224560] [ENSMUST00000225159] [ENSMUST00000226068]

AlphaFold

Q69ZN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041475
AA Change: S1793G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: S1793G

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 damaging
Transcript: ENSMUST00000172095
AA Change: S1793G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: S1793G

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: ENSMUST00000224560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224580

Predicted Effect

probably damaging
Transcript: ENSMUST00000225159
AA Change: S1052G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226068
AA Change: S1806G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.1448

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,766,277 (GRCm39)	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,694,781 (GRCm39)	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,108,756 (GRCm39)	I419T	probably benign	Het
Ccbe1	A	T	18: 66,216,222 (GRCm39)	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,183,380 (GRCm39)	T207A	probably benign	Het
Cd300lf	G	A	11: 115,017,126 (GRCm39)	L66F	probably damaging	Het
Cenpk	A	G	13: 104,372,702 (GRCm39)	*92W	probably null	Het
Col12a1	A	T	9: 79,511,760 (GRCm39)	S2950R	probably benign	Het
Dnah3	T	C	7: 119,574,331 (GRCm39)	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,478,332 (GRCm39)		probably benign	Het
Elac2	G	T	11: 64,888,783 (GRCm39)	C532F	probably benign	Het
Fam171a1	T	A	2: 3,226,374 (GRCm39)	D377E	probably benign	Het
Haus6	A	G	4: 86,504,594 (GRCm39)	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kank4	T	C	4: 98,659,630 (GRCm39)	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,365,515 (GRCm39)		probably null	Het
Kif21b	C	T	1: 136,078,875 (GRCm39)	R408*	probably null	Het
Lrrc31	A	G	3: 30,733,289 (GRCm39)	V475A	probably benign	Het
Map2k1	C	T	9: 64,098,548 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,592 (GRCm39)	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,281,581 (GRCm39)	S326P	possibly damaging	Het
Muc6	T	A	7: 141,236,769 (GRCm39)	I358F	probably damaging	Het
Myo5c	A	G	9: 75,204,770 (GRCm39)	D1541G	probably damaging	Het
Nfkb1	T	A	3: 135,309,541 (GRCm39)	T518S	probably damaging	Het
Nphs1	T	A	7: 30,173,810 (GRCm39)	I989N	probably damaging	Het
Or5m12	T	C	2: 85,734,865 (GRCm39)	T178A	probably benign	Het
Pcdha5	T	C	18: 37,094,474 (GRCm39)	F328L	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375 (GRCm39)	N52S	probably damaging	Het
Phf10	A	C	17: 15,175,272 (GRCm39)		probably benign	Het
Pip4p1	A	G	14: 51,166,332 (GRCm39)		probably benign	Het
Psme4	T	C	11: 30,741,993 (GRCm39)	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,510,644 (GRCm39)		probably benign	Het
Rufy4	A	T	1: 74,185,914 (GRCm39)	Y527F	probably damaging	Het
Snx32	T	C	19: 5,546,382 (GRCm39)	M293V	probably benign	Het
Sorl1	A	T	9: 41,894,330 (GRCm39)	L1827M	possibly damaging	Het
Sstr5	T	A	17: 25,710,218 (GRCm39)	D337V	probably benign	Het
Tcaf3	A	G	6: 42,573,631 (GRCm39)	F194L	probably benign	Het
Tcerg1	T	A	18: 42,669,413 (GRCm39)	W459R	probably damaging	Het
Tet2	T	A	3: 133,192,860 (GRCm39)	I525L	probably benign	Het
Trim43b	C	T	9: 88,967,659 (GRCm39)	V325I	probably benign	Het
Txndc11	A	T	16: 10,940,552 (GRCm39)	I180K	probably damaging	Het
Vmn1r193	A	G	13: 22,403,395 (GRCm39)	L199P	probably damaging	Het
Vmn2r110	A	G	17: 20,804,557 (GRCm39)	M121T	probably benign	Het
Zfhx4	G	C	3: 5,467,719 (GRCm39)	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zwilch	T	A	9: 64,080,190 (GRCm39)		probably null	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Myof	APN	19	37,949,382 (GRCm39)	missense	probably benign	0.16
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
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

Predicted Primers

PCR Primer
(F):5'- GGCATTTAGCTTTCCTGGCAC -3'
(R):5'- AAGAGTTTAGGACCACCAGGC -3'

Sequencing Primer
(F):5'- CCCCCTACACAGAGCATTGTAAG -3'
(R):5'- GGACTCGAAGACGTATACT -3'

Posted On

2017-02-10