Mutagenetix > Incidental Mutation

Incidental Mutation 'R3970:Myof'

310950

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

040938-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37901263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1287 (V1287M)

Ref Sequence

ENSEMBL: ENSMUSP00000153201 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000041475
AA Change: V2028M

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: V2028M

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: V2028M

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: V2028M

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

unknown
Transcript: ENSMUST00000224900
AA Change: V93M

Predicted Effect

probably damaging
Transcript: ENSMUST00000225159
AA Change: V1287M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225435

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: V2041M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,322 (GRCm38)	M583T	probably damaging	Het
Actn4	T	C	7: 28,962,032 (GRCm38)	K51R	probably benign	Het
Adamts15	T	C	9: 30,910,602 (GRCm38)	Y513C	probably benign	Het
Akap13	T	A	7: 75,569,951 (GRCm38)	L34*	probably null	Het
Akap6	A	T	12: 53,141,453 (GRCm38)	K1883N	probably damaging	Het
Ano1	T	C	7: 144,607,963 (GRCm38)	N749D	probably benign	Het
Armcx6	G	T	X: 134,749,756 (GRCm38)	H109N	possibly damaging	Het
Camk4	T	A	18: 33,179,581 (GRCm38)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,726,458 (GRCm38)	N781I	probably damaging	Het
Cherp	T	C	8: 72,469,951 (GRCm38)	H196R	possibly damaging	Het
Chia1	T	G	3: 106,121,635 (GRCm38)		probably null	Het
Col11a1	A	T	3: 114,097,189 (GRCm38)	T392S	unknown	Het
Commd9	C	A	2: 101,897,141 (GRCm38)	N93K	probably benign	Het
Csf2rb	T	C	15: 78,341,467 (GRCm38)	V286A	probably benign	Het
Dnah17	G	A	11: 118,041,158 (GRCm38)		probably benign	Het
E2f1	C	G	2: 154,564,022 (GRCm38)	G144R	probably damaging	Het
Fam196b	A	T	11: 34,419,739 (GRCm38)	Q481L	probably damaging	Het
Fcho2	A	T	13: 98,735,056 (GRCm38)	S551T	probably benign	Het
Flna	A	T	X: 74,235,667 (GRCm38)	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,907,345 (GRCm38)	C774S	probably benign	Het
Gm14401	T	C	2: 177,086,996 (GRCm38)	Y292H	possibly damaging	Het
Kif5c	A	G	2: 49,688,744 (GRCm38)	E128G	probably damaging	Het
Lama3	A	T	18: 12,580,341 (GRCm38)	K3230M	probably damaging	Het
Myrf	A	G	19: 10,223,237 (GRCm38)	L332P	probably damaging	Het
Nampt	T	A	12: 32,833,096 (GRCm38)	D93E	probably benign	Het
Narf	A	T	11: 121,238,421 (GRCm38)	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,921,655 (GRCm38)	A45E	probably damaging	Het
Obscn	G	A	11: 59,051,662 (GRCm38)	P4898L	probably damaging	Het
Olfr251	T	C	9: 38,377,926 (GRCm38)	V15A	probably damaging	Het
Pabpc5	A	G	X: 119,928,624 (GRCm38)	E212G	probably benign	Het
Pcdh8	C	T	14: 79,770,266 (GRCm38)	G286S	possibly damaging	Het
Pcdha2	C	A	18: 36,940,697 (GRCm38)	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,687,601 (GRCm38)	L734F	possibly damaging	Het
Pecr	G	A	1: 72,276,309 (GRCm38)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,011,696 (GRCm38)	V2776E	probably damaging	Het
Pign	A	C	1: 105,656,003 (GRCm38)	S125A	probably damaging	Het
Pik3r2	G	A	8: 70,770,421 (GRCm38)	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,874,218 (GRCm38)	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,715,690 (GRCm38)		probably benign	Het
Ppl	T	C	16: 5,100,332 (GRCm38)		probably null	Het
Pramel4	A	T	4: 144,068,474 (GRCm38)	N477I	possibly damaging	Het
Psd	C	T	19: 46,324,406 (GRCm38)	R175H	probably benign	Het
Sema3g	T	C	14: 31,226,521 (GRCm38)		probably null	Het
Sf3b1	G	A	1: 55,012,182 (GRCm38)	R196*	probably null	Het
Slc26a4	G	T	12: 31,528,687 (GRCm38)	H656N	probably damaging	Het
Slc6a7	A	C	18: 61,003,345 (GRCm38)	L328R	possibly damaging	Het
Stab2	T	C	10: 86,878,886 (GRCm38)	T139A	probably damaging	Het
Tiam2	T	A	17: 3,428,831 (GRCm38)	I613N	probably damaging	Het
Tlk1	A	G	2: 70,716,652 (GRCm38)	V695A	probably damaging	Het
Trpc2	A	G	7: 102,084,324 (GRCm38)	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,079,915 (GRCm38)	V491A	probably damaging	Het
Vwa7	G	A	17: 35,017,708 (GRCm38)	A84T	probably damaging	Het
Zfp219	T	A	14: 52,006,964 (GRCm38)	Q541L	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGTGCAGAGATAGCAGAGC -3'
(R):5'- CATGCTGGTTGATAGTCCTTCATG -3'

Sequencing Primer
(F):5'- GACACATGTCACTGACCTCTGG -3'
(R):5'- TCCTTCATGAGTTAAGGAGAGAAAC -3'

Posted On

2015-04-29