Mutagenetix > Incidental Mutation

Incidental Mutation 'R6837:Myof'

537925

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

E030042N20Rik, 2310051D19Rik, Fer1l3

MMRRC Submission

044945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37887484-38032025 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 37911404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153225 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably null
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 null
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: ENSMUST00000225159

Predicted Effect

probably null
Transcript: ENSMUST00000226068

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (41/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 53,188,045 (GRCm39)	E1820K	probably damaging	Het
Anxa8	A	T	14: 33,814,511 (GRCm39)	I116F	probably damaging	Het
Arid4a	A	G	12: 71,122,289 (GRCm39)	D890G	probably benign	Het
Aup1	C	T	6: 83,034,279 (GRCm39)	T396I	possibly damaging	Het
C2cd3	G	C	7: 100,097,953 (GRCm39)	E594Q	probably damaging	Het
Colgalt2	C	T	1: 152,382,579 (GRCm39)	P477L	probably damaging	Het
Dennd3	G	A	15: 73,429,542 (GRCm39)	D20N	probably damaging	Het
Dpysl3	A	G	18: 43,570,947 (GRCm39)	I109T	probably benign	Het
Fas	A	T	19: 34,284,564 (GRCm39)	T24S	probably damaging	Het
Fras1	A	T	5: 96,874,832 (GRCm39)	I2332F	probably damaging	Het
Gm10267	T	C	18: 44,291,375 (GRCm39)	H32R	probably benign	Het
Gm57859	A	G	11: 113,579,439 (GRCm39)	H278R	possibly damaging	Het
Hcfc2	A	T	10: 82,575,030 (GRCm39)	I230F	probably damaging	Het
Hdac9	T	C	12: 34,337,463 (GRCm39)	T673A	probably benign	Het
Herc2	T	G	7: 55,839,589 (GRCm39)	N3366K	possibly damaging	Het
Hhla1	T	C	15: 65,820,334 (GRCm39)	N139D	probably damaging	Het
Hip1r	A	G	5: 124,136,928 (GRCm39)	E632G	possibly damaging	Het
Kcnc2	A	G	10: 112,294,407 (GRCm39)	D98G	probably damaging	Het
Maip1	T	A	1: 57,454,891 (GRCm39)	*292K	probably null	Het
Map2	T	C	1: 66,453,731 (GRCm39)	F874L	probably damaging	Het
Notch2	A	G	3: 97,978,170 (GRCm39)		probably null	Het
Npy5r	T	A	8: 67,134,392 (GRCm39)	M134L	probably benign	Het
Ntsr2	T	A	12: 16,709,710 (GRCm39)	M225K	probably benign	Het
Nup153	G	A	13: 46,847,527 (GRCm39)	T634I	probably damaging	Het
Or51f1d	T	A	7: 102,700,929 (GRCm39)	Y141*	probably null	Het
Pcsk5	T	C	19: 17,416,448 (GRCm39)	S1667G	probably benign	Het
Pex13	A	G	11: 23,599,527 (GRCm39)	I328T	possibly damaging	Het
Pkd2	T	G	5: 104,624,909 (GRCm39)	L235W	probably damaging	Het
Prune2	A	T	19: 17,156,292 (GRCm39)	D66V	probably damaging	Het
Rasal3	T	C	17: 32,622,044 (GRCm39)	N105S	probably benign	Het
Sla	A	T	15: 66,658,939 (GRCm39)	I144N	probably damaging	Het
Slc5a4b	A	T	10: 75,898,220 (GRCm39)	I498N	possibly damaging	Het
Snx14	C	T	9: 88,262,276 (GRCm39)	E872K	probably benign	Het
Stx16	G	A	2: 173,935,795 (GRCm39)	R242H	probably benign	Het
Tg	T	C	15: 66,567,984 (GRCm39)	F1296S	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmf1	G	A	6: 97,153,542 (GRCm39)	T177M	possibly damaging	Het
Tuba4a	T	C	1: 75,194,038 (GRCm39)	Q14R	probably damaging	Het
Vmn2r114	T	C	17: 23,529,176 (GRCm39)	M309V	probably benign	Het
Vps13c	C	T	9: 67,817,504 (GRCm39)	P1059S	probably benign	Het
Yars1	T	A	4: 129,103,544 (GRCm39)	S298T	possibly damaging	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
IGL03114:Myof	APN	19	37,892,309 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTTGGGAAGATTTGACCCAG -3'
(R):5'- TTTGGTACTCAGCCCTGTTG -3'

Sequencing Primer
(F):5'- TGACCCAGGAGGATTTGAGTC -3'
(R):5'- GGAGACACCACCTCTGTTTTAATGAG -3'

Posted On

2018-10-18