Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Myof'

346054

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4606 (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 37967099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 526 (V526M)

Ref Sequence

ENSEMBL: ENSMUSP00000045036 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041475
AA Change: V526M

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

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: V526M

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: V526M

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: V526M

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

probably damaging
Transcript: ENSMUST00000225159
AA Change: V10M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226068
AA Change: V539M

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	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
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
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'- CGTTGGAGGGACTTACTATGAAG -3'
(R):5'- AGAGCCTTTTCTATCCGAGC -3'

Sequencing Primer
(F):5'- TGAAGCAGATCTTTCTCCGAG -3'
(R):5'- CGAGCATCTCATGACATCATTTGG -3'

Posted On

2015-09-25