Mutagenetix > Incidental Mutation

Incidental Mutation 'R0349:Myof'

36132

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

038556-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0349 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37910969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1040 (I1040T)

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: I1781T

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: I1781T

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

possibly damaging
Transcript: ENSMUST00000172095
AA Change: I1781T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: I1781T

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: I1040T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226068
AA Change: I1794T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
A1cf	A	T	19: 31,932,662	S285C	possibly damaging	Het
Abcc9	A	T	6: 142,664,625	N604K	probably benign	Het
Adgrl3	A	G	5: 81,771,644	T1192A	probably damaging	Het
Aldh1l2	A	T	10: 83,490,614	Y800N	probably damaging	Het
Ano3	A	T	2: 110,661,487	V865D	probably damaging	Het
App	A	T	16: 85,013,680	L545Q	probably damaging	Het
Atp10a	A	G	7: 58,803,467	D798G	probably damaging	Het
B3galnt2	T	C	13: 13,991,474	V318A	probably benign	Het
BC005561	T	C	5: 104,519,976	L788P	possibly damaging	Het
Clcn3	T	A	8: 60,941,348	D49V	possibly damaging	Het
Clcn6	T	A	4: 148,024,194	K126M	possibly damaging	Het
Cntln	T	A	4: 84,996,485	S510T	probably damaging	Het
Csk	A	C	9: 57,628,194	C290W	probably damaging	Het
Dmxl1	T	A	18: 49,879,282	M1502K	probably damaging	Het
Dpy19l2	T	A	9: 24,695,922	N81I	possibly damaging	Het
Dpyd	T	A	3: 118,917,099	C385*	probably null	Het
Dst	G	A	1: 34,199,553	V1765I	probably benign	Het
Eif5b	A	G	1: 38,032,366	S459G	probably benign	Het
Fam105a	T	A	15: 27,664,790	I27L	probably benign	Het
Fam83d	A	G	2: 158,779,848	I160V	possibly damaging	Het
Fat3	A	G	9: 16,031,180	F1299L	probably damaging	Het
Fmn1	A	G	2: 113,365,796	I614V	unknown	Het
Fsd1l	T	A	4: 53,679,854	V184E	probably damaging	Het
Fyco1	A	G	9: 123,797,662	V1328A	probably damaging	Het
Ganab	T	A	19: 8,911,652	N572K	probably null	Het
Gbp10	T	A	5: 105,221,076	D299V	possibly damaging	Het
Gm13078	T	G	4: 143,727,059	W246G	probably benign	Het
Gpr83	T	G	9: 14,868,267	L205R	probably damaging	Het
Hapln2	G	A	3: 88,023,629	P152S	probably damaging	Het
Htatip2	T	C	7: 49,773,392	Y232H	probably benign	Het
Itga2b	C	T	11: 102,467,426	V158I	probably damaging	Het
Kansl3	T	C	1: 36,351,783	D390G	probably damaging	Het
Kcnh2	T	C	5: 24,351,237	D16G	probably benign	Het
Kctd8	A	T	5: 69,341,010	F98I	probably damaging	Het
Kif21b	A	T	1: 136,149,311	E357V	probably damaging	Het
Kmt5c	C	T	7: 4,746,595	R371C	probably damaging	Het
Kndc1	T	C	7: 139,910,304	F241L	probably benign	Het
Lrba	A	G	3: 86,540,005	D2052G	probably damaging	Het
Lsr	T	A	7: 30,959,273	I54F	probably damaging	Het
Matk	G	T	10: 81,258,494	L28F	probably benign	Het
Mdn1	T	C	4: 32,750,318	L4429P	probably damaging	Het
Med29	CCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGC	7: 28,392,510		probably benign	Het
Msln	G	T	17: 25,750,276	Q407K	possibly damaging	Het
Msr1	C	T	8: 39,581,827	G428R	probably damaging	Het
Nckap5	A	G	1: 126,026,434	S794P	probably benign	Het
Nfkbiz	C	T	16: 55,818,991		probably null	Het
Nr2c1	C	T	10: 94,195,182	S535L	probably damaging	Het
Olfr1448	A	T	19: 12,919,935	C125S	probably damaging	Het
Olfr665	A	T	7: 104,880,992	D95V	possibly damaging	Het
Olfr747	G	A	14: 50,681,254	R127C	probably benign	Het
Opn3	A	C	1: 175,692,304	L78R	probably damaging	Het
Pcdhb9	A	G	18: 37,402,579	N542S	probably damaging	Het
Pdc	T	A	1: 150,333,427	N220K	probably benign	Het
Pde6c	A	T	19: 38,162,349	N569Y	probably damaging	Het
Pgm2	A	T	4: 99,963,617	K219M	probably damaging	Het
Pitpnb	C	T	5: 111,347,126	T99M	possibly damaging	Het
Pou6f2	T	A	13: 18,152,004	Q71L	probably damaging	Het
Prkd1	C	A	12: 50,366,356	L677F	probably damaging	Het
Ranbp17	T	C	11: 33,500,689	I78V	probably benign	Het
Rnft2	T	A	5: 118,201,385	K362M	possibly damaging	Het
Rprd1a	T	A	18: 24,506,847	E259V	possibly damaging	Het
Scara3	A	T	14: 65,931,781	I129N	probably damaging	Het
Scgb1a1	A	T	19: 9,085,389		probably null	Het
Sec16b	A	T	1: 157,532,176		probably null	Het
Slc18a1	A	T	8: 69,072,101	M167K	probably damaging	Het
Slc6a15	C	T	10: 103,418,225	A674V	probably benign	Het
Slc6a3	T	C	13: 73,567,557	F437S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Stag1	T	A	9: 100,776,784	N141K	probably damaging	Het
Sun2	T	C	15: 79,730,232	E321G	probably damaging	Het
Taar2	C	A	10: 23,941,429	T289K	possibly damaging	Het
Taar2	T	C	10: 23,941,509	Y316H	probably benign	Het
Tbcd	T	A	11: 121,602,983		probably null	Het
Tecr	G	A	8: 83,572,275	T106I	probably damaging	Het
Tmem60	T	G	5: 20,886,630	V131G	probably benign	Het
Uimc1	A	G	13: 55,075,991	V156A	probably benign	Het
Usp28	G	A	9: 49,010,281	W266*	probably null	Het
Vmn2r17	T	A	5: 109,428,336	S358T	probably damaging	Het
Wwc2	T	A	8: 47,868,666	Y471F	unknown	Het
Ythdc1	C	T	5: 86,835,720	R675C	probably damaging	Het
Zfp30	T	C	7: 29,793,604	S428P	probably damaging	Het
Zfp462	T	A	4: 55,008,768	C245S	probably benign	Het
Zscan30	T	C	18: 23,971,398		noncoding transcript	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	37954429	missense	possibly damaging	0.50
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
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
R9537:Myof	UTSW	19	37907606	missense	probably damaging	1.00
R9592:Myof	UTSW	19	38043289	missense	probably damaging	0.99
X0024:Myof	UTSW	19	37974597	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GCTGGCATTTAGCTTTCCTGGCAC -3'
(R):5'- TCTTCCCCAAGAGTTTAGGACCACC -3'

Sequencing Primer
(F):5'- TAAGCAGCAATGTCTGGTAACC -3'
(R):5'- CCAGGACTCGAAGACGTATACT -3'

Posted On

2013-05-09