Mutagenetix > Incidental Mutation

Incidental Mutation 'R4407:Myof'

327740

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

041689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4407 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37922978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1502 (S1502P)

Ref Sequence

ENSEMBL: ENSMUSP00000129792 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041475
AA Change: S1502P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: S1502P

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: S1502P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: S1502P

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: ENSMUST00000224518

Predicted Effect

probably benign
Transcript: ENSMUST00000225159

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: S1515P

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1365

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,532,055 (GRCm38)		noncoding transcript	Het
Bbs10	A	G	10: 111,299,859 (GRCm38)	T278A	probably benign	Het
BC053393	A	G	11: 46,577,380 (GRCm38)	T94A	probably damaging	Het
Bcl6b	A	G	11: 70,226,103 (GRCm38)	L450P	probably damaging	Het
Braf	T	G	6: 39,615,720 (GRCm38)	K674Q	probably damaging	Het
Cep112	C	T	11: 108,519,201 (GRCm38)	T481I	possibly damaging	Het
Cep135	T	A	5: 76,624,667 (GRCm38)	M633K	probably benign	Het
Cpped1	T	C	16: 11,805,421 (GRCm38)	Y278C	probably damaging	Het
Depdc5	T	A	5: 32,904,534 (GRCm38)		probably null	Het
Dolpp1	C	T	2: 30,396,452 (GRCm38)	A128V	possibly damaging	Het
E2f5	T	A	3: 14,603,763 (GRCm38)	D238E	probably benign	Het
Fat4	A	T	3: 38,958,540 (GRCm38)	D2328V	probably benign	Het
Fbln1	T	A	15: 85,231,556 (GRCm38)		probably null	Het
Fkbp3	T	C	12: 65,070,004 (GRCm38)	T53A	probably damaging	Het
Flg2	G	T	3: 93,214,869 (GRCm38)	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,577,202 (GRCm38)		probably benign	Het
Glyctk	A	T	9: 106,157,108 (GRCm38)		probably benign	Het
Gm37596	C	A	3: 93,692,112 (GRCm38)	V317L	probably benign	Het
Gm6430	T	C	1: 97,025,572 (GRCm38)		noncoding transcript	Het
Golga1	C	A	2: 39,019,641 (GRCm38)		probably null	Het
Gucy2g	A	T	19: 55,237,837 (GRCm38)	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,313,884 (GRCm38)	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,212,128 (GRCm38)		probably benign	Het
Lemd3	A	T	10: 120,925,430 (GRCm38)	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,502,517 (GRCm38)	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,505,402 (GRCm38)	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,287,228 (GRCm38)	D665E	probably damaging	Het
Olfr1178	A	T	2: 88,392,083 (GRCm38)	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,144,446 (GRCm38)	V160L	probably benign	Het
Pcnt	T	C	10: 76,374,870 (GRCm38)	E2473G	possibly damaging	Het
Pitpnm2	T	A	5: 124,152,615 (GRCm38)	I3L	possibly damaging	Het
Prkd3	C	A	17: 78,983,558 (GRCm38)	W176L	probably damaging	Het
Prpf39	C	T	12: 65,056,266 (GRCm38)	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,147,399 (GRCm38)	F655I	probably damaging	Het
Rrp12	T	C	19: 41,892,551 (GRCm38)	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,574,718 (GRCm38)	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,514,764 (GRCm38)	S115T	probably damaging	Het
Spg11	A	C	2: 122,075,332 (GRCm38)	D1277E	probably benign	Het
Sspo	A	G	6: 48,460,520 (GRCm38)	D1279G	probably damaging	Het
St18	T	C	1: 6,827,837 (GRCm38)	I621T	probably benign	Het
Tbc1d31	T	A	15: 57,920,042 (GRCm38)	D112E	possibly damaging	Het
Tgm4	A	T	9: 123,056,530 (GRCm38)	D379V	probably damaging	Het
Thyn1	A	T	9: 27,003,597 (GRCm38)	D15V	possibly damaging	Het
Tm4sf19	T	C	16: 32,407,894 (GRCm38)	V167A	possibly damaging	Het
Trim38	A	C	13: 23,791,491 (GRCm38)	Q471P	probably benign	Het
Trmt1	T	A	8: 84,697,755 (GRCm38)		probably benign	Het
Ubqlnl	C	T	7: 104,149,718 (GRCm38)	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375 (GRCm38)	I1500V	probably benign	Het
Vgll4	C	T	6: 114,890,612 (GRCm38)		probably null	Het
Vmn1r173	T	A	7: 23,703,016 (GRCm38)	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,637,954 (GRCm38)	G226R	probably damaging	Het
Wnk3	C	A	X: 151,233,213 (GRCm38)	P555Q	probably benign	Het
Yes1	T	G	5: 32,640,585 (GRCm38)	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 104,560,688 (GRCm38)	R322*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCAATATCCTGACTCCCCTG -3'
(R):5'- AGTTCTATGCTGCACCCGTG -3'

Sequencing Primer
(F):5'- CCCTGGGGGCATTTTCC -3'
(R):5'- GCCCCAGGAGTTCTGTCCAATC -3'

Posted On

2015-07-07