Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Myof'

388595

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37905325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1130 (I1130N)

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: I1871N

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

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: I1871N

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: I1871N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: I1871N

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

possibly damaging
Transcript: ENSMUST00000225159
AA Change: I1130N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225435

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: I1884N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	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	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
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'- ACACAGCTTGGAGGATACCC -3'
(R):5'- TAGGCCTTGAGACTTCCTGG -3'

Sequencing Primer
(F):5'- CAGCTTGGAGGATACCCAATCAAG -3'
(R):5'- TGGCCTTCCAAATGCATGG -3'

Posted On

2016-06-06