Mutagenetix > Incidental Mutations

Incidental Mutation 'R6737:Myof'

530284

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37943514 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 968 (T968I)

Ref Sequence

ENSEMBL: ENSMUSP00000153225 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041475
AA Change: T955I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: T955I

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: T955I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: T955I

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

noncoding transcript
Transcript: ENSMUST00000224518

Predicted Effect

probably benign
Transcript: ENSMUST00000225159
AA Change: T439I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: T968I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,568	R114G	probably damaging	Het
8430408G22Rik	G	T	6: 116,652,097	V134L	possibly damaging	Het
Atm	A	T	9: 53,486,051	S1661T	probably benign	Het
Cd69	C	T	6: 129,268,299	A188T	probably benign	Het
Cecr2	G	T	6: 120,737,123	L225F	possibly damaging	Het
Cep295	A	G	9: 15,332,351	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,707,716		probably benign	Het
Clptm1	A	T	7: 19,637,076		probably null	Het
Crybg2	G	T	4: 134,072,690	G387V	probably damaging	Het
Ctcf	T	A	8: 105,664,508	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,834	S952*	probably null	Het
Cxcr2	T	C	1: 74,158,631	F95L	probably benign	Het
Ddx55	C	A	5: 124,552,945	T5K	probably damaging	Het
Eif2ak2	T	C	17: 78,863,948	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,462,268		probably null	Het
Epb41l2	C	G	10: 25,489,018		probably null	Het
Fam234b	A	G	6: 135,228,515	K493E	probably damaging	Het
Fndc7	C	A	3: 108,872,278	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,183,077	I7M	probably benign	Het
Gal3st1	T	A	11: 3,998,903	I370N	probably benign	Het
Gatsl3	A	G	11: 4,221,685	D303G	probably damaging	Het
Glo1	C	T	17: 30,597,840	S114N	probably benign	Het
Grik1	T	C	16: 88,051,391	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,110,492	C195R	probably damaging	Het
Hdac9	T	C	12: 34,215,452	N806S	probably damaging	Het
Igfn1	T	C	1: 135,969,867	N987S	probably benign	Het
Klhl29	G	T	12: 5,210,124	S31R	possibly damaging	Het
Lama4	C	T	10: 39,094,911	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,793,627	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,723,218	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,954	N52Y	possibly damaging	Het
Mrc1	C	T	2: 14,271,277	A474V	possibly damaging	Het
Msl1	A	G	11: 98,804,082	H134R	probably damaging	Het
Muc5b	T	C	7: 141,857,499	M1394T	unknown	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Ncoa5	C	T	2: 165,002,135	G116D	probably damaging	Het
Ndst2	A	G	14: 20,727,494	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,083,969	V459E	probably damaging	Het
Nup133	A	T	8: 123,906,291	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,689,206	S829T	probably benign	Het
Olfr1317	T	C	2: 112,142,203	F86S	probably damaging	Het
Olfr201	A	G	16: 59,268,812	L285P	possibly damaging	Het
Olfr401	A	G	11: 74,121,906	S206G	probably benign	Het
Olfr628	C	T	7: 103,732,150	L75F	probably damaging	Het
Pcdh18	C	A	3: 49,755,895	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,322,670	L701H	probably damaging	Het
Plau	T	G	14: 20,837,816	Y43D	probably damaging	Het
Pld5	T	A	1: 176,090,022	N53I	probably damaging	Het
Pon2	T	A	6: 5,266,183	I279F	probably benign	Het
Prep	A	T	10: 45,097,495	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,822,808	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,858,876		probably null	Het
Rnf19b	T	C	4: 129,085,551		probably benign	Het
Rpl9-ps6	A	C	19: 32,466,327	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,562,474	Y609C	probably damaging	Het
Skint5	T	C	4: 113,535,739	N1232S	unknown	Het
Slc28a1	T	G	7: 81,169,248	V615G	probably benign	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snx13	T	G	12: 35,140,186	N845K	probably damaging	Het
Srms	T	C	2: 181,209,460	Y171C	probably damaging	Het
Supt6	A	G	11: 78,231,818	L193P	probably damaging	Het
Syt7	G	A	19: 10,444,044	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,457,096		probably null	Het
Tnik	A	T	3: 28,596,086	K449N	possibly damaging	Het
Trim29	A	T	9: 43,319,384	D288V	probably benign	Het
Ttc13	T	A	8: 124,682,161		probably null	Het
Uchl3	A	T	14: 101,690,597	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,809	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,611	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,563,442	K88*	probably null	Het
Ylpm1	C	A	12: 85,030,846	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,785,046	K667E	probably damaging	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
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
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
X0024:Myof	UTSW	19	37974597	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ATTACACCACATGACCTAGGTG -3'
(R):5'- ACTGGAGACGTGCTTTTAATGTAGG -3'

Sequencing Primer
(F):5'- ACATGACCTAGGTGGAGCC -3'
(R):5'- AGACGTGCTTTTAATGTAGGATTTG -3'

Posted On

2018-08-01