Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02268:Myof'

287008

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37954429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 218 (V218M)

Ref Sequence

ENSEMBL: ENSMUSP00000153201 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000041475
AA Change: V734M

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: V734M

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: V734M

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: V734M

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

possibly damaging
Transcript: ENSMUST00000225159
AA Change: V218M

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: V747M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	T	A	1: 43,730,951	C23S	probably damaging	Het
2310057J18Rik	C	T	10: 28,986,246	C16Y	probably benign	Het
5330417C22Rik	C	A	3: 108,467,797	A585S	probably benign	Het
Abca13	C	T	11: 9,290,626	L830F	probably benign	Het
Apcdd1	T	C	18: 62,950,188	V363A	probably damaging	Het
Cachd1	A	G	4: 100,952,097	I260V	possibly damaging	Het
Cass4	T	A	2: 172,427,042	M350K	possibly damaging	Het
Ccdc129	A	T	6: 55,884,688		probably benign	Het
Ccnjl	A	G	11: 43,579,788	T128A	probably benign	Het
Cd6	C	T	19: 10,796,388	G361D	probably benign	Het
Cdh22	T	C	2: 165,123,719		probably benign	Het
Ces2h	T	A	8: 105,019,940	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380	T44S	probably damaging	Het
Cplx3	C	T	9: 57,602,458	E86K	possibly damaging	Het
Crbn	A	G	6: 106,795,043	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,241,155	V1267L	possibly damaging	Het
F930017D23Rik	A	G	10: 43,604,409		noncoding transcript	Het
Fam214b	T	A	4: 43,036,468	R88*	probably null	Het
Fastkd3	A	G	13: 68,583,677	D39G	probably damaging	Het
Gm17689	T	C	9: 36,581,870	Y52C	possibly damaging	Het
Golgb1	T	A	16: 36,913,128	S912R	probably benign	Het
H2-T24	T	C	17: 36,017,372	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,592,354	L11*	probably null	Het
Igsf10	A	T	3: 59,331,152	L536*	probably null	Het
Kcnma1	A	T	14: 23,543,076	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,373,716	I857L	possibly damaging	Het
Kptn	A	T	7: 16,123,861	H229L	probably benign	Het
Krt32	A	T	11: 100,088,141	M29K	probably benign	Het
Lama2	A	G	10: 27,001,116		probably benign	Het
Lpcat2b	A	C	5: 107,434,116	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,607,898	L513P	probably damaging	Het
Mon1a	T	C	9: 107,901,798	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,246,237	P135L	probably damaging	Het
Nbas	A	G	12: 13,405,397	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,528,618	P560S	probably benign	Het
Notch2	G	A	3: 98,137,397	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,781,531	H572Y	probably damaging	Het
Olfr314	T	C	11: 58,786,725	F164L	probably benign	Het
Olfr873	T	C	9: 20,300,292	S31P	probably damaging	Het
Pcdh15	A	T	10: 74,342,672	D587V	probably damaging	Het
Pik3cb	T	C	9: 99,046,556	Y882C	probably benign	Het
Plch1	T	A	3: 63,699,283	*1074C	probably null	Het
Plcxd1	T	C	5: 110,100,274		probably benign	Het
Ppp2r2d	A	G	7: 138,872,971	N27S	probably null	Het
Prkar2a	A	G	9: 108,746,953	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,868,958	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,493,653		probably benign	Het
Rasl12	T	C	9: 65,398,664	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,418,857	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,468,719	K290R	probably damaging	Het
Rwdd4a	T	A	8: 47,550,696	L179*	probably null	Het
Scgb1b24	A	G	7: 33,744,963	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,017,722	I1022V	probably benign	Het
Smg1	A	C	7: 118,182,541	I1174M	probably benign	Het
Spata17	A	T	1: 187,140,398	M72K	probably damaging	Het
Synpo2	G	A	3: 123,116,983	P338S	probably damaging	Het
Tpi1	G	A	6: 124,814,124	T50I	probably benign	Het
Trpm1	A	G	7: 64,217,614	E354G	probably damaging	Het
Uba2	A	G	7: 34,142,736		probably null	Het
Wnk1	G	A	6: 119,937,373	R1823*	probably null	Het
Zfp248	A	C	6: 118,453,840		probably benign	Het
Zfp51	A	T	17: 21,463,419	K99*	probably null	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Myof	APN	19	37960934	missense	probably benign	0.16
IGL00764:Myof	APN	19	37974923	missense	probably benign	0.04
IGL00801:Myof	APN	19	37986073	missense	probably damaging	0.99
IGL01084:Myof	APN	19	37936436	missense	probably damaging	1.00
IGL01368:Myof	APN	19	37936457	missense	probably damaging	0.97
IGL01472:Myof	APN	19	37923076	missense	probably benign
IGL01785:Myof	APN	19	37980423	nonsense	probably null
IGL02205:Myof	APN	19	37924635	missense	probably damaging	1.00
IGL02268:Myof	APN	19	37974863	missense	possibly damaging	0.90
IGL02339:Myof	APN	19	37972213	missense	possibly damaging	0.46
IGL02433:Myof	APN	19	37972193	missense	probably benign	0.05
IGL02481:Myof	APN	19	37937913	nonsense	probably null
IGL02536:Myof	APN	19	37949655	missense	probably damaging	0.97
IGL02682:Myof	APN	19	37921481	missense	probably benign	0.09
IGL02732:Myof	APN	19	37977716	missense	possibly damaging	0.50
IGL02887:Myof	APN	19	37920779	critical splice acceptor site	probably null
IGL03114:Myof	APN	19	37903861	missense	probably damaging	1.00
IGL03137:Myof	APN	19	37974889	missense	probably damaging	1.00
IGL03340:Myof	APN	19	37911159	missense	probably damaging	1.00
PIT4791001:Myof	UTSW	19	37982958	critical splice donor site	probably null
R0024:Myof	UTSW	19	37915740	missense	probably damaging	0.98
R0140:Myof	UTSW	19	37951556	nonsense	probably null
R0309:Myof	UTSW	19	37981266	missense	probably benign	0.12
R0330:Myof	UTSW	19	37935878	missense	probably damaging	1.00
R0345:Myof	UTSW	19	38024345	missense	probably damaging	1.00
R0349:Myof	UTSW	19	37910969	missense	probably damaging	0.99
R0463:Myof	UTSW	19	37916504	missense	probably damaging	1.00
R0507:Myof	UTSW	19	37901277	missense	possibly damaging	0.94
R0512:Myof	UTSW	19	37954524	missense	possibly damaging	0.54
R0608:Myof	UTSW	19	37916504	missense	probably damaging	1.00
R0723:Myof	UTSW	19	37981260	missense	probably damaging	1.00
R1081:Myof	UTSW	19	37986088	missense	probably damaging	0.99
R1196:Myof	UTSW	19	37910960	missense	probably damaging	1.00
R1243:Myof	UTSW	19	37936092	missense	probably damaging	1.00
R1371:Myof	UTSW	19	37903668	splice site	probably benign
R1381:Myof	UTSW	19	37995485	missense	probably damaging	1.00
R1419:Myof	UTSW	19	37901911	missense	probably damaging	1.00
R1527:Myof	UTSW	19	37924619	missense	probably damaging	1.00
R1672:Myof	UTSW	19	37943479	missense	probably damaging	1.00
R1864:Myof	UTSW	19	37986705	missense	probably benign
R1914:Myof	UTSW	19	37977693	missense	probably damaging	1.00
R1915:Myof	UTSW	19	37977693	missense	probably damaging	1.00
R1970:Myof	UTSW	19	37945634	missense	probably damaging	0.99
R2062:Myof	UTSW	19	37915746	missense	possibly damaging	0.94
R2144:Myof	UTSW	19	37981221	critical splice donor site	probably null
R2243:Myof	UTSW	19	37901319	missense	probably damaging	1.00
R2339:Myof	UTSW	19	37937927	missense	probably damaging	1.00
R2484:Myof	UTSW	19	37903843	missense	probably benign	0.13
R2880:Myof	UTSW	19	37923025	missense	probably benign	0.04
R3418:Myof	UTSW	19	37922978	missense	probably damaging	0.97
R3967:Myof	UTSW	19	37901263	missense	probably damaging	1.00
R3967:Myof	UTSW	19	38022610	missense	possibly damaging	0.59
R3970:Myof	UTSW	19	37901263	missense	probably damaging	1.00
R3970:Myof	UTSW	19	38022610	missense	possibly damaging	0.59
R4238:Myof	UTSW	19	37923008	nonsense	probably null
R4405:Myof	UTSW	19	37922978	missense	probably damaging	0.97
R4406:Myof	UTSW	19	37922978	missense	probably damaging	0.97
R4407:Myof	UTSW	19	37922978	missense	probably damaging	0.97
R4408:Myof	UTSW	19	37922978	missense	probably damaging	0.97
R4561:Myof	UTSW	19	37922990	missense	probably benign
R4606:Myof	UTSW	19	37967099	missense	probably damaging	1.00
R4778:Myof	UTSW	19	37949563	missense	probably damaging	1.00
R4801:Myof	UTSW	19	37945738	missense	probably benign	0.24
R4802:Myof	UTSW	19	37945738	missense	probably benign	0.24
R4812:Myof	UTSW	19	37916559	missense	probably damaging	1.00
R4884:Myof	UTSW	19	37942357	missense	probably damaging	1.00
R4964:Myof	UTSW	19	37935852	missense	probably damaging	0.97
R4966:Myof	UTSW	19	37935852	missense	probably damaging	0.97
R5069:Myof	UTSW	19	37905325	missense	possibly damaging	0.65
R5181:Myof	UTSW	19	37932623	missense	possibly damaging	0.95
R5376:Myof	UTSW	19	37916400	missense	probably damaging	1.00
R5384:Myof	UTSW	19	37952987	missense	probably damaging	0.98
R5543:Myof	UTSW	19	37981330	missense	probably benign	0.00
R5626:Myof	UTSW	19	37922990	missense	probably benign
R5865:Myof	UTSW	19	37910934	missense	probably damaging	1.00
R5919:Myof	UTSW	19	38024370	missense	possibly damaging	0.95
R5924:Myof	UTSW	19	37982973	missense	probably damaging	0.97
R5997:Myof	UTSW	19	37905299	missense	possibly damaging	0.90
R5999:Myof	UTSW	19	37939856	nonsense	probably null
R6039:Myof	UTSW	19	37977684	missense	probably damaging	1.00
R6039:Myof	UTSW	19	37977684	missense	probably damaging	1.00
R6041:Myof	UTSW	19	37924620	missense	probably damaging	1.00
R6051:Myof	UTSW	19	38024361	missense	probably damaging	1.00
R6057:Myof	UTSW	19	37926981	critical splice donor site	probably null
R6089:Myof	UTSW	19	37967060	missense	probably benign	0.37
R6195:Myof	UTSW	19	37913357	missense	possibly damaging	0.89
R6478:Myof	UTSW	19	37903831	missense	probably damaging	1.00
R6545:Myof	UTSW	19	37942297	missense	possibly damaging	0.67
R6655:Myof	UTSW	19	37934791	missense	probably damaging	1.00
R6715:Myof	UTSW	19	37968346	missense	probably benign	0.04
R6737:Myof	UTSW	19	37943514	missense	probably benign	0.01
R6837:Myof	UTSW	19	37922956	critical splice donor site	probably null
R7096:Myof	UTSW	19	37936200	missense	probably damaging	1.00
R7308:Myof	UTSW	19	37910911	missense	probably damaging	0.98
R7328:Myof	UTSW	19	37916399	missense	probably damaging	1.00
R7485:Myof	UTSW	19	37951491	nonsense	probably null
R7554:Myof	UTSW	19	37954510	missense	probably benign	0.09
R7759:Myof	UTSW	19	37939898	missense	probably benign	0.00
R7779:Myof	UTSW	19	37939390	missense	probably damaging	1.00
R8116:Myof	UTSW	19	37932719	missense	probably damaging	0.99
R8264:Myof	UTSW	19	37921433	missense	probably damaging	1.00
R8415:Myof	UTSW	19	37995424	missense	probably benign
R8756:Myof	UTSW	19	37939952	missense	probably benign
R8777:Myof	UTSW	19	37980393	missense	probably benign	0.01
R8777-TAIL:Myof	UTSW	19	37980393	missense	probably benign	0.01
R8835:Myof	UTSW	19	37967099	missense	possibly damaging	0.92
R9396:Myof	UTSW	19	37934846	missense	probably damaging	1.00
R9415:Myof	UTSW	19	37952964	missense	probably damaging	1.00
R9450:Myof	UTSW	19	37960926	missense	probably damaging	1.00
R9451:Myof	UTSW	19	37977648	critical splice donor site	probably null
X0024:Myof	UTSW	19	37974597	missense	probably benign	0.14

Posted On

2015-04-16