Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03114:Myof'

419324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

E030042N20Rik, 2310051D19Rik, Fer1l3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

37887484-38032025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37892309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1148 (L1148Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153201 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041475
AA Change: L1889Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: L1889Q

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 damaging
Transcript: ENSMUST00000172095
AA Change: L1889Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: L1889Q

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 damaging
Transcript: ENSMUST00000225159
AA Change: L1148Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225435

Predicted Effect

probably damaging
Transcript: ENSMUST00000226068
AA Change: L1902Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,651,144 (GRCm39)	I89F	possibly damaging	Het
Abca13	T	A	11: 9,478,999 (GRCm39)	H4282Q	probably benign	Het
Acta2	A	G	19: 34,222,310 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,723,579 (GRCm39)		probably benign	Het
Avpr1a	A	G	10: 122,285,623 (GRCm39)	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,906,603 (GRCm39)	N565K	probably damaging	Het
Boc	A	T	16: 44,307,115 (GRCm39)	S1035R	probably benign	Het
Brd10	A	T	19: 29,694,532 (GRCm39)	S1654T	probably benign	Het
Ccdc7a	T	C	8: 129,753,170 (GRCm39)	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,457 (GRCm39)	E680K	probably damaging	Het
Copa	T	A	1: 171,946,835 (GRCm39)	Y1014*	probably null	Het
Csmd3	A	G	15: 47,683,847 (GRCm39)	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,353,042 (GRCm39)	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,447,628 (GRCm39)		probably benign	Het
Egf	A	T	3: 129,530,529 (GRCm39)	L211Q	probably damaging	Het
Eno1	G	A	4: 150,325,583 (GRCm39)	R56H	probably benign	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Git2	G	A	5: 114,871,918 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,245,752 (GRCm39)		probably null	Het
Hyal4	A	T	6: 24,755,964 (GRCm39)	I61L	probably benign	Het
Kat14	T	C	2: 144,217,885 (GRCm39)		probably null	Het
Kif13b	T	C	14: 65,025,897 (GRCm39)	V1418A	probably benign	Het
Lcn12	T	C	2: 25,383,274 (GRCm39)	K35E	probably benign	Het
Lyrm7	G	T	11: 54,741,198 (GRCm39)	N45K	possibly damaging	Het
Mical2	G	T	7: 111,996,764 (GRCm39)	G559V	probably damaging	Het
Mtrr	A	T	13: 68,712,441 (GRCm39)	C648*	probably null	Het
Muc5b	C	A	7: 141,412,556 (GRCm39)	S1834*	probably null	Het
Mup16	G	A	4: 61,436,250 (GRCm39)	T101M	probably benign	Het
Nags	A	T	11: 102,039,814 (GRCm39)	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,317,886 (GRCm39)	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,415,993 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,891,365 (GRCm39)	S7056P	unknown	Het
Or52s1	T	C	7: 102,861,928 (GRCm39)	I287T	probably damaging	Het
Pde2a	C	A	7: 101,157,890 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,163,343 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,268,395 (GRCm39)	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,654,935 (GRCm39)	V178A	probably damaging	Het
Prdx3	T	C	19: 60,861,556 (GRCm39)		probably benign	Het
Prkce	T	A	17: 86,961,983 (GRCm39)	D694E	probably damaging	Het
Prss1l	T	A	6: 41,374,012 (GRCm39)	C205S	probably damaging	Het
Ptdss1	T	A	13: 67,142,058 (GRCm39)	Y405*	probably null	Het
Rad54l	A	T	4: 115,955,729 (GRCm39)	W608R	probably damaging	Het
Rassf6	G	T	5: 90,756,649 (GRCm39)		probably benign	Het
Sema5a	A	T	15: 32,673,573 (GRCm39)	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,572,267 (GRCm39)	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,116,288 (GRCm39)	E1347G	probably benign	Het
Tmco3	T	C	8: 13,348,205 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,551,996 (GRCm39)	M31214V	probably null	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,276,209 (GRCm39)	Y355C	probably damaging	Het
Usp48	C	A	4: 137,383,436 (GRCm39)	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,685,500 (GRCm39)		probably benign	Het
Vmn2r90	T	C	17: 17,953,771 (GRCm39)	I645T	probably damaging	Het
Vps18	T	C	2: 119,124,132 (GRCm39)	V353A	possibly damaging	Het
Vwf	C	T	6: 125,576,326 (GRCm39)	Q469*	probably null	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Myof	APN	19	37,949,382 (GRCm39)	missense	probably benign	0.16
IGL00764:Myof	APN	19	37,963,371 (GRCm39)	missense	probably benign	0.04
IGL00801:Myof	APN	19	37,974,521 (GRCm39)	missense	probably damaging	0.99
IGL01084:Myof	APN	19	37,924,884 (GRCm39)	missense	probably damaging	1.00
IGL01368:Myof	APN	19	37,924,905 (GRCm39)	missense	probably damaging	0.97
IGL01472:Myof	APN	19	37,911,524 (GRCm39)	missense	probably benign
IGL01785:Myof	APN	19	37,968,871 (GRCm39)	nonsense	probably null
IGL02205:Myof	APN	19	37,913,083 (GRCm39)	missense	probably damaging	1.00
IGL02268:Myof	APN	19	37,963,311 (GRCm39)	missense	possibly damaging	0.90
IGL02268:Myof	APN	19	37,942,877 (GRCm39)	missense	possibly damaging	0.50
IGL02339:Myof	APN	19	37,960,661 (GRCm39)	missense	possibly damaging	0.46
IGL02433:Myof	APN	19	37,960,641 (GRCm39)	missense	probably benign	0.05
IGL02481:Myof	APN	19	37,926,361 (GRCm39)	nonsense	probably null
IGL02536:Myof	APN	19	37,938,103 (GRCm39)	missense	probably damaging	0.97
IGL02682:Myof	APN	19	37,909,929 (GRCm39)	missense	probably benign	0.09
IGL02732:Myof	APN	19	37,966,164 (GRCm39)	missense	possibly damaging	0.50
IGL02887:Myof	APN	19	37,909,227 (GRCm39)	critical splice acceptor site	probably null
IGL03137:Myof	APN	19	37,963,337 (GRCm39)	missense	probably damaging	1.00
IGL03340:Myof	APN	19	37,899,607 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Myof	UTSW	19	37,971,406 (GRCm39)	critical splice donor site	probably null
R0024:Myof	UTSW	19	37,904,188 (GRCm39)	missense	probably damaging	0.98
R0140:Myof	UTSW	19	37,940,004 (GRCm39)	nonsense	probably null
R0309:Myof	UTSW	19	37,969,714 (GRCm39)	missense	probably benign	0.12
R0330:Myof	UTSW	19	37,924,326 (GRCm39)	missense	probably damaging	1.00
R0345:Myof	UTSW	19	38,012,793 (GRCm39)	missense	probably damaging	1.00
R0349:Myof	UTSW	19	37,899,417 (GRCm39)	missense	probably damaging	0.99
R0463:Myof	UTSW	19	37,904,952 (GRCm39)	missense	probably damaging	1.00
R0507:Myof	UTSW	19	37,889,725 (GRCm39)	missense	possibly damaging	0.94
R0512:Myof	UTSW	19	37,942,972 (GRCm39)	missense	possibly damaging	0.54
R0608:Myof	UTSW	19	37,904,952 (GRCm39)	missense	probably damaging	1.00
R0723:Myof	UTSW	19	37,969,708 (GRCm39)	missense	probably damaging	1.00
R1081:Myof	UTSW	19	37,974,536 (GRCm39)	missense	probably damaging	0.99
R1196:Myof	UTSW	19	37,899,408 (GRCm39)	missense	probably damaging	1.00
R1243:Myof	UTSW	19	37,924,540 (GRCm39)	missense	probably damaging	1.00
R1371:Myof	UTSW	19	37,892,116 (GRCm39)	splice site	probably benign
R1381:Myof	UTSW	19	37,983,933 (GRCm39)	missense	probably damaging	1.00
R1419:Myof	UTSW	19	37,890,359 (GRCm39)	missense	probably damaging	1.00
R1527:Myof	UTSW	19	37,913,067 (GRCm39)	missense	probably damaging	1.00
R1672:Myof	UTSW	19	37,931,927 (GRCm39)	missense	probably damaging	1.00
R1864:Myof	UTSW	19	37,975,153 (GRCm39)	missense	probably benign
R1914:Myof	UTSW	19	37,966,141 (GRCm39)	missense	probably damaging	1.00
R1915:Myof	UTSW	19	37,966,141 (GRCm39)	missense	probably damaging	1.00
R1970:Myof	UTSW	19	37,934,082 (GRCm39)	missense	probably damaging	0.99
R2062:Myof	UTSW	19	37,904,194 (GRCm39)	missense	possibly damaging	0.94
R2144:Myof	UTSW	19	37,969,669 (GRCm39)	critical splice donor site	probably null
R2243:Myof	UTSW	19	37,889,767 (GRCm39)	missense	probably damaging	1.00
R2339:Myof	UTSW	19	37,926,375 (GRCm39)	missense	probably damaging	1.00
R2484:Myof	UTSW	19	37,892,291 (GRCm39)	missense	probably benign	0.13
R2880:Myof	UTSW	19	37,911,473 (GRCm39)	missense	probably benign	0.04
R3418:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R3967:Myof	UTSW	19	38,011,058 (GRCm39)	missense	possibly damaging	0.59
R3967:Myof	UTSW	19	37,889,711 (GRCm39)	missense	probably damaging	1.00
R3970:Myof	UTSW	19	38,011,058 (GRCm39)	missense	possibly damaging	0.59
R3970:Myof	UTSW	19	37,889,711 (GRCm39)	missense	probably damaging	1.00
R4238:Myof	UTSW	19	37,911,456 (GRCm39)	nonsense	probably null
R4405:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4406:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4407:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4408:Myof	UTSW	19	37,911,426 (GRCm39)	missense	probably damaging	0.97
R4561:Myof	UTSW	19	37,911,438 (GRCm39)	missense	probably benign
R4606:Myof	UTSW	19	37,955,547 (GRCm39)	missense	probably damaging	1.00
R4778:Myof	UTSW	19	37,938,011 (GRCm39)	missense	probably damaging	1.00
R4801:Myof	UTSW	19	37,934,186 (GRCm39)	missense	probably benign	0.24
R4802:Myof	UTSW	19	37,934,186 (GRCm39)	missense	probably benign	0.24
R4812:Myof	UTSW	19	37,905,007 (GRCm39)	missense	probably damaging	1.00
R4884:Myof	UTSW	19	37,930,805 (GRCm39)	missense	probably damaging	1.00
R4964:Myof	UTSW	19	37,924,300 (GRCm39)	missense	probably damaging	0.97
R4966:Myof	UTSW	19	37,924,300 (GRCm39)	missense	probably damaging	0.97
R5069:Myof	UTSW	19	37,893,773 (GRCm39)	missense	possibly damaging	0.65
R5181:Myof	UTSW	19	37,921,071 (GRCm39)	missense	possibly damaging	0.95
R5376:Myof	UTSW	19	37,904,848 (GRCm39)	missense	probably damaging	1.00
R5384:Myof	UTSW	19	37,941,435 (GRCm39)	missense	probably damaging	0.98
R5543:Myof	UTSW	19	37,969,778 (GRCm39)	missense	probably benign	0.00
R5626:Myof	UTSW	19	37,911,438 (GRCm39)	missense	probably benign
R5865:Myof	UTSW	19	37,899,382 (GRCm39)	missense	probably damaging	1.00
R5919:Myof	UTSW	19	38,012,818 (GRCm39)	missense	possibly damaging	0.95
R5924:Myof	UTSW	19	37,971,421 (GRCm39)	missense	probably damaging	0.97
R5997:Myof	UTSW	19	37,893,747 (GRCm39)	missense	possibly damaging	0.90
R5999:Myof	UTSW	19	37,928,304 (GRCm39)	nonsense	probably null
R6039:Myof	UTSW	19	37,966,132 (GRCm39)	missense	probably damaging	1.00
R6039:Myof	UTSW	19	37,966,132 (GRCm39)	missense	probably damaging	1.00
R6041:Myof	UTSW	19	37,913,068 (GRCm39)	missense	probably damaging	1.00
R6051:Myof	UTSW	19	38,012,809 (GRCm39)	missense	probably damaging	1.00
R6057:Myof	UTSW	19	37,915,429 (GRCm39)	critical splice donor site	probably null
R6089:Myof	UTSW	19	37,955,508 (GRCm39)	missense	probably benign	0.37
R6195:Myof	UTSW	19	37,901,805 (GRCm39)	missense	possibly damaging	0.89
R6478:Myof	UTSW	19	37,892,279 (GRCm39)	missense	probably damaging	1.00
R6545:Myof	UTSW	19	37,930,745 (GRCm39)	missense	possibly damaging	0.67
R6655:Myof	UTSW	19	37,923,239 (GRCm39)	missense	probably damaging	1.00
R6715:Myof	UTSW	19	37,956,794 (GRCm39)	missense	probably benign	0.04
R6737:Myof	UTSW	19	37,931,962 (GRCm39)	missense	probably benign	0.01
R6837:Myof	UTSW	19	37,911,404 (GRCm39)	critical splice donor site	probably null
R7096:Myof	UTSW	19	37,924,648 (GRCm39)	missense	probably damaging	1.00
R7308:Myof	UTSW	19	37,899,359 (GRCm39)	missense	probably damaging	0.98
R7328:Myof	UTSW	19	37,904,847 (GRCm39)	missense	probably damaging	1.00
R7485:Myof	UTSW	19	37,939,939 (GRCm39)	nonsense	probably null
R7554:Myof	UTSW	19	37,942,958 (GRCm39)	missense	probably benign	0.09
R7759:Myof	UTSW	19	37,928,346 (GRCm39)	missense	probably benign	0.00
R7779:Myof	UTSW	19	37,927,838 (GRCm39)	missense	probably damaging	1.00
R8116:Myof	UTSW	19	37,921,167 (GRCm39)	missense	probably damaging	0.99
R8264:Myof	UTSW	19	37,909,881 (GRCm39)	missense	probably damaging	1.00
R8415:Myof	UTSW	19	37,983,872 (GRCm39)	missense	probably benign
R8756:Myof	UTSW	19	37,928,400 (GRCm39)	missense	probably benign
R8777:Myof	UTSW	19	37,968,841 (GRCm39)	missense	probably benign	0.01
R8777-TAIL:Myof	UTSW	19	37,968,841 (GRCm39)	missense	probably benign	0.01
R8835:Myof	UTSW	19	37,955,547 (GRCm39)	missense	possibly damaging	0.92
R9046:Myof	UTSW	19	37,923,112 (GRCm39)	intron	probably benign
R9396:Myof	UTSW	19	37,923,294 (GRCm39)	missense	probably damaging	1.00
R9415:Myof	UTSW	19	37,941,412 (GRCm39)	missense	probably damaging	1.00
R9450:Myof	UTSW	19	37,949,374 (GRCm39)	missense	probably damaging	1.00
R9451:Myof	UTSW	19	37,966,096 (GRCm39)	critical splice donor site	probably null
R9537:Myof	UTSW	19	37,896,054 (GRCm39)	missense	probably damaging	1.00
R9592:Myof	UTSW	19	38,031,737 (GRCm39)	missense	probably damaging	0.99
R9616:Myof	UTSW	19	37,923,263 (GRCm39)	missense	possibly damaging	0.52
R9751:Myof	UTSW	19	37,924,818 (GRCm39)	missense	probably benign
X0024:Myof	UTSW	19	37,963,045 (GRCm39)	missense	probably benign	0.14

Posted On

2016-08-02