Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02536:Myof'

297512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

Fer1l3, E030042N20Rik, 2310051D19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02536

Quality Score

Status

Chromosome

Chromosomal Location

37899036-38043577 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37949655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 870 (H870Q)

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: H870Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: H870Q

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: H870Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: H870Q

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 benign
Transcript: ENSMUST00000225159
AA Change: H354Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226068
AA Change: H883Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,778,244 (GRCm38)		noncoding transcript	Het
Abca8b	C	T	11: 109,981,748 (GRCm38)	R9H	probably benign	Het
Adamts8	T	A	9: 30,962,072 (GRCm38)	S858T	probably benign	Het
Alg1	C	T	16: 5,239,159 (GRCm38)	Q245*	probably null	Het
Ankmy1	T	C	1: 92,886,188 (GRCm38)	Y423C	probably damaging	Het
Anp32a	A	T	9: 62,371,828 (GRCm38)	T55S	probably damaging	Het
Arhgef9	A	C	X: 95,058,837 (GRCm38)	V406G	probably damaging	Het
Bdkrb1	T	C	12: 105,605,000 (GRCm38)	F275S	possibly damaging	Het
Card9	C	T	2: 26,358,832 (GRCm38)	V102I	possibly damaging	Het
Ccdc130	A	T	8: 84,260,616 (GRCm38)	Y109*	probably null	Het
Ccdc81	A	T	7: 89,877,580 (GRCm38)		probably benign	Het
Cd101	T	A	3: 101,003,597 (GRCm38)	D915V	probably damaging	Het
Cdk10	A	G	8: 123,227,015 (GRCm38)	D77G	possibly damaging	Het
Ctnnd1	T	C	2: 84,605,196 (GRCm38)	T827A	probably benign	Het
Dspp	A	C	5: 104,175,665 (GRCm38)	T225P	probably damaging	Het
Evpl	T	C	11: 116,221,209 (GRCm38)	E1885G	probably damaging	Het
Fstl4	C	T	11: 53,134,024 (GRCm38)		probably benign	Het
Gm5930	T	A	14: 44,337,558 (GRCm38)	N57I	probably damaging	Het
Gnl2	C	T	4: 125,052,608 (GRCm38)	Q541*	probably null	Het
Igkv3-1	T	C	6: 70,704,051 (GRCm38)	V78A	probably benign	Het
Inpp5a	T	C	7: 139,567,422 (GRCm38)	I321T	probably benign	Het
Kif20b	T	A	19: 34,974,559 (GRCm38)	S1746T	probably benign	Het
Lrrc8c	T	C	5: 105,607,172 (GRCm38)	I271T	probably benign	Het
Mrps10	T	C	17: 47,375,003 (GRCm38)	Y152H	probably damaging	Het
Myl9	C	T	2: 156,778,549 (GRCm38)	S2L	probably damaging	Het
Nfatc4	A	T	14: 55,829,910 (GRCm38)	I456F	probably damaging	Het
Notch2	A	G	3: 98,102,407 (GRCm38)	H550R	probably benign	Het
Olfr113	T	A	17: 37,574,926 (GRCm38)	I166F	probably damaging	Het
Olfr275	T	A	4: 52,825,817 (GRCm38)	V140D	possibly damaging	Het
Olfr624	T	A	7: 103,670,957 (GRCm38)	I25F	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,164 (GRCm38)	L144P	probably damaging	Het
P2rx1	A	T	11: 73,012,474 (GRCm38)	I230F	probably damaging	Het
Pcnt	A	G	10: 76,380,229 (GRCm38)	V2275A	possibly damaging	Het
Pip5k1a	G	A	3: 95,064,396 (GRCm38)	T465I	probably benign	Het
Pnkd	G	A	1: 74,351,900 (GRCm38)	R415H	probably damaging	Het
Prdx4	T	A	X: 155,332,447 (GRCm38)	I132F	probably damaging	Het
Pvr	A	G	7: 19,918,792 (GRCm38)	M66T	probably benign	Het
Rnf216	A	G	5: 143,080,240 (GRCm38)	I531T	probably benign	Het
Rps6ka4	A	T	19: 6,832,071 (GRCm38)	F405Y	probably damaging	Het
Serpinb2	A	G	1: 107,524,949 (GRCm38)		probably benign	Het
Sfxn1	A	G	13: 54,085,494 (GRCm38)	K12R	probably benign	Het
Slc17a7	A	G	7: 45,170,946 (GRCm38)	E275G	probably damaging	Het
Tnpo2	A	T	8: 85,045,067 (GRCm38)	I245F	probably benign	Het
Ush2a	A	T	1: 188,957,266 (GRCm38)		probably null	Het
Zcchc4	C	T	5: 52,808,316 (GRCm38)	R321W	probably damaging	Het

Other mutations in Myof

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Myof	APN	19	37,960,934 (GRCm38)	missense	probably benign	0.16
IGL00764:Myof	APN	19	37,974,923 (GRCm38)	missense	probably benign	0.04
IGL00801:Myof	APN	19	37,986,073 (GRCm38)	missense	probably damaging	0.99
IGL01084:Myof	APN	19	37,936,436 (GRCm38)	missense	probably damaging	1.00
IGL01368:Myof	APN	19	37,936,457 (GRCm38)	missense	probably damaging	0.97
IGL01472:Myof	APN	19	37,923,076 (GRCm38)	missense	probably benign
IGL01785:Myof	APN	19	37,980,423 (GRCm38)	nonsense	probably null
IGL02205:Myof	APN	19	37,924,635 (GRCm38)	missense	probably damaging	1.00
IGL02268:Myof	APN	19	37,974,863 (GRCm38)	missense	possibly damaging	0.90
IGL02268:Myof	APN	19	37,954,429 (GRCm38)	missense	possibly damaging	0.50
IGL02339:Myof	APN	19	37,972,213 (GRCm38)	missense	possibly damaging	0.46
IGL02433:Myof	APN	19	37,972,193 (GRCm38)	missense	probably benign	0.05
IGL02481:Myof	APN	19	37,937,913 (GRCm38)	nonsense	probably null
IGL02682:Myof	APN	19	37,921,481 (GRCm38)	missense	probably benign	0.09
IGL02732:Myof	APN	19	37,977,716 (GRCm38)	missense	possibly damaging	0.50
IGL02887:Myof	APN	19	37,920,779 (GRCm38)	critical splice acceptor site	probably null
IGL03114:Myof	APN	19	37,903,861 (GRCm38)	missense	probably damaging	1.00
IGL03137:Myof	APN	19	37,974,889 (GRCm38)	missense	probably damaging	1.00
IGL03340:Myof	APN	19	37,911,159 (GRCm38)	missense	probably damaging	1.00
PIT4791001:Myof	UTSW	19	37,982,958 (GRCm38)	critical splice donor site	probably null
R0024:Myof	UTSW	19	37,915,740 (GRCm38)	missense	probably damaging	0.98
R0140:Myof	UTSW	19	37,951,556 (GRCm38)	nonsense	probably null
R0309:Myof	UTSW	19	37,981,266 (GRCm38)	missense	probably benign	0.12
R0330:Myof	UTSW	19	37,935,878 (GRCm38)	missense	probably damaging	1.00
R0345:Myof	UTSW	19	38,024,345 (GRCm38)	missense	probably damaging	1.00
R0349:Myof	UTSW	19	37,910,969 (GRCm38)	missense	probably damaging	0.99
R0463:Myof	UTSW	19	37,916,504 (GRCm38)	missense	probably damaging	1.00
R0507:Myof	UTSW	19	37,901,277 (GRCm38)	missense	possibly damaging	0.94
R0512:Myof	UTSW	19	37,954,524 (GRCm38)	missense	possibly damaging	0.54
R0608:Myof	UTSW	19	37,916,504 (GRCm38)	missense	probably damaging	1.00
R0723:Myof	UTSW	19	37,981,260 (GRCm38)	missense	probably damaging	1.00
R1081:Myof	UTSW	19	37,986,088 (GRCm38)	missense	probably damaging	0.99
R1196:Myof	UTSW	19	37,910,960 (GRCm38)	missense	probably damaging	1.00
R1243:Myof	UTSW	19	37,936,092 (GRCm38)	missense	probably damaging	1.00
R1371:Myof	UTSW	19	37,903,668 (GRCm38)	splice site	probably benign
R1381:Myof	UTSW	19	37,995,485 (GRCm38)	missense	probably damaging	1.00
R1419:Myof	UTSW	19	37,901,911 (GRCm38)	missense	probably damaging	1.00
R1527:Myof	UTSW	19	37,924,619 (GRCm38)	missense	probably damaging	1.00
R1672:Myof	UTSW	19	37,943,479 (GRCm38)	missense	probably damaging	1.00
R1864:Myof	UTSW	19	37,986,705 (GRCm38)	missense	probably benign
R1914:Myof	UTSW	19	37,977,693 (GRCm38)	missense	probably damaging	1.00
R1915:Myof	UTSW	19	37,977,693 (GRCm38)	missense	probably damaging	1.00
R1970:Myof	UTSW	19	37,945,634 (GRCm38)	missense	probably damaging	0.99
R2062:Myof	UTSW	19	37,915,746 (GRCm38)	missense	possibly damaging	0.94
R2144:Myof	UTSW	19	37,981,221 (GRCm38)	critical splice donor site	probably null
R2243:Myof	UTSW	19	37,901,319 (GRCm38)	missense	probably damaging	1.00
R2339:Myof	UTSW	19	37,937,927 (GRCm38)	missense	probably damaging	1.00
R2484:Myof	UTSW	19	37,903,843 (GRCm38)	missense	probably benign	0.13
R2880:Myof	UTSW	19	37,923,025 (GRCm38)	missense	probably benign	0.04
R3418:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R3967:Myof	UTSW	19	38,022,610 (GRCm38)	missense	possibly damaging	0.59
R3967:Myof	UTSW	19	37,901,263 (GRCm38)	missense	probably damaging	1.00
R3970:Myof	UTSW	19	38,022,610 (GRCm38)	missense	possibly damaging	0.59
R3970:Myof	UTSW	19	37,901,263 (GRCm38)	missense	probably damaging	1.00
R4238:Myof	UTSW	19	37,923,008 (GRCm38)	nonsense	probably null
R4405:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4406:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4407:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4408:Myof	UTSW	19	37,922,978 (GRCm38)	missense	probably damaging	0.97
R4561:Myof	UTSW	19	37,922,990 (GRCm38)	missense	probably benign
R4606:Myof	UTSW	19	37,967,099 (GRCm38)	missense	probably damaging	1.00
R4778:Myof	UTSW	19	37,949,563 (GRCm38)	missense	probably damaging	1.00
R4801:Myof	UTSW	19	37,945,738 (GRCm38)	missense	probably benign	0.24
R4802:Myof	UTSW	19	37,945,738 (GRCm38)	missense	probably benign	0.24
R4812:Myof	UTSW	19	37,916,559 (GRCm38)	missense	probably damaging	1.00
R4884:Myof	UTSW	19	37,942,357 (GRCm38)	missense	probably damaging	1.00
R4964:Myof	UTSW	19	37,935,852 (GRCm38)	missense	probably damaging	0.97
R4966:Myof	UTSW	19	37,935,852 (GRCm38)	missense	probably damaging	0.97
R5069:Myof	UTSW	19	37,905,325 (GRCm38)	missense	possibly damaging	0.65
R5181:Myof	UTSW	19	37,932,623 (GRCm38)	missense	possibly damaging	0.95
R5376:Myof	UTSW	19	37,916,400 (GRCm38)	missense	probably damaging	1.00
R5384:Myof	UTSW	19	37,952,987 (GRCm38)	missense	probably damaging	0.98
R5543:Myof	UTSW	19	37,981,330 (GRCm38)	missense	probably benign	0.00
R5626:Myof	UTSW	19	37,922,990 (GRCm38)	missense	probably benign
R5865:Myof	UTSW	19	37,910,934 (GRCm38)	missense	probably damaging	1.00
R5919:Myof	UTSW	19	38,024,370 (GRCm38)	missense	possibly damaging	0.95
R5924:Myof	UTSW	19	37,982,973 (GRCm38)	missense	probably damaging	0.97
R5997:Myof	UTSW	19	37,905,299 (GRCm38)	missense	possibly damaging	0.90
R5999:Myof	UTSW	19	37,939,856 (GRCm38)	nonsense	probably null
R6039:Myof	UTSW	19	37,977,684 (GRCm38)	missense	probably damaging	1.00
R6039:Myof	UTSW	19	37,977,684 (GRCm38)	missense	probably damaging	1.00
R6041:Myof	UTSW	19	37,924,620 (GRCm38)	missense	probably damaging	1.00
R6051:Myof	UTSW	19	38,024,361 (GRCm38)	missense	probably damaging	1.00
R6057:Myof	UTSW	19	37,926,981 (GRCm38)	critical splice donor site	probably null
R6089:Myof	UTSW	19	37,967,060 (GRCm38)	missense	probably benign	0.37
R6195:Myof	UTSW	19	37,913,357 (GRCm38)	missense	possibly damaging	0.89
R6478:Myof	UTSW	19	37,903,831 (GRCm38)	missense	probably damaging	1.00
R6545:Myof	UTSW	19	37,942,297 (GRCm38)	missense	possibly damaging	0.67
R6655:Myof	UTSW	19	37,934,791 (GRCm38)	missense	probably damaging	1.00
R6715:Myof	UTSW	19	37,968,346 (GRCm38)	missense	probably benign	0.04
R6737:Myof	UTSW	19	37,943,514 (GRCm38)	missense	probably benign	0.01
R6837:Myof	UTSW	19	37,922,956 (GRCm38)	critical splice donor site	probably null
R7096:Myof	UTSW	19	37,936,200 (GRCm38)	missense	probably damaging	1.00
R7308:Myof	UTSW	19	37,910,911 (GRCm38)	missense	probably damaging	0.98
R7328:Myof	UTSW	19	37,916,399 (GRCm38)	missense	probably damaging	1.00
R7485:Myof	UTSW	19	37,951,491 (GRCm38)	nonsense	probably null
R7554:Myof	UTSW	19	37,954,510 (GRCm38)	missense	probably benign	0.09
R7759:Myof	UTSW	19	37,939,898 (GRCm38)	missense	probably benign	0.00
R7779:Myof	UTSW	19	37,939,390 (GRCm38)	missense	probably damaging	1.00
R8116:Myof	UTSW	19	37,932,719 (GRCm38)	missense	probably damaging	0.99
R8264:Myof	UTSW	19	37,921,433 (GRCm38)	missense	probably damaging	1.00
R8415:Myof	UTSW	19	37,995,424 (GRCm38)	missense	probably benign
R8756:Myof	UTSW	19	37,939,952 (GRCm38)	missense	probably benign
R8777:Myof	UTSW	19	37,980,393 (GRCm38)	missense	probably benign	0.01
R8777-TAIL:Myof	UTSW	19	37,980,393 (GRCm38)	missense	probably benign	0.01
R8835:Myof	UTSW	19	37,967,099 (GRCm38)	missense	possibly damaging	0.92
R9046:Myof	UTSW	19	37,934,664 (GRCm38)	intron	probably benign
R9396:Myof	UTSW	19	37,934,846 (GRCm38)	missense	probably damaging	1.00
R9415:Myof	UTSW	19	37,952,964 (GRCm38)	missense	probably damaging	1.00
R9450:Myof	UTSW	19	37,960,926 (GRCm38)	missense	probably damaging	1.00
R9451:Myof	UTSW	19	37,977,648 (GRCm38)	critical splice donor site	probably null
R9537:Myof	UTSW	19	37,907,606 (GRCm38)	missense	probably damaging	1.00
R9592:Myof	UTSW	19	38,043,289 (GRCm38)	missense	probably damaging	0.99
R9616:Myof	UTSW	19	37,934,815 (GRCm38)	missense	possibly damaging	0.52
R9751:Myof	UTSW	19	37,936,370 (GRCm38)	missense	probably benign
X0024:Myof	UTSW	19	37,974,597 (GRCm38)	missense	probably benign	0.14

Posted On

2015-04-16