Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Myof'

157345

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 37903668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153225 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000041475

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612

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

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612

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

probably benign
Transcript: ENSMUST00000224900

Predicted Effect

probably benign
Transcript: ENSMUST00000225159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225435

Predicted Effect

probably benign
Transcript: ENSMUST00000226068

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
BC061237	A	G	14: 44,504,305		probably benign	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,280,603	E285G	probably benign	Het
Ces1f	C	T	8: 93,279,649	G18R	probably damaging	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
Edc4	A	G	8: 105,890,750		probably benign	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Sall4	A	G	2: 168,756,474	Y149H	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	probably benign	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
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
R9046:Myof	UTSW	19	37934664	intron	probably benign
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
R9616:Myof	UTSW	19	37934815	missense	possibly damaging	0.52
R9751:Myof	UTSW	19	37936370	missense	probably benign
X0024:Myof	UTSW	19	37974597	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACAAATGCCACCACTTGGTTCCTG -3'
(R):5'- CCCTGGACAAGAACATCCTGTTCAC -3'

Sequencing Primer
(F):5'- ATGCCCACGGTGTCTTCTAT -3'
(R):5'- ACCACTTGAAGCTTATCTGGAC -3'

Posted On

2014-02-18