Mutagenetix > Incidental Mutation

Incidental Mutation 'R8756:Myof'

664189

Institutional Source

Beutler Lab

Gene Symbol

Myof

Ensembl Gene

ENSMUSG00000048612

Gene Name

myoferlin

Synonyms

E030042N20Rik, 2310051D19Rik, Fer1l3

MMRRC Submission

068597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37887484-38032025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37928400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1050 (W1050R)

Ref Sequence

ENSEMBL: ENSMUSP00000045036 (fasta)

Gene Model

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

AlphaFold

Q69ZN7

Predicted Effect

probably benign
Transcript: ENSMUST00000041475
AA Change: W1050R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: W1050R

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: W1050R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: W1050R

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
AA Change: W534R

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000226068
AA Change: W1063R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	T	6: 87,165,235 (GRCm39)	S401T	probably damaging	Het
Armh1	T	A	4: 117,094,861 (GRCm39)	I60L	probably benign	Het
Atp8b5	T	C	4: 43,342,439 (GRCm39)	V370A	probably damaging	Het
Atraid	T	A	5: 31,211,385 (GRCm39)	Y184N	probably damaging	Het
Cp	G	C	3: 20,059,736 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,903,767 (GRCm39)	I1824T	probably benign	Het
Cyp2c65	A	T	19: 39,049,552 (GRCm39)	R27*	probably null	Het
Dtl	T	C	1: 191,271,371 (GRCm39)	H725R	probably benign	Het
Dync1h1	G	T	12: 110,583,261 (GRCm39)	A453S	probably benign	Het
Fat3	T	A	9: 16,287,885 (GRCm39)	D546V	probably damaging	Het
Flt1	T	C	5: 147,576,224 (GRCm39)	T595A	probably benign	Het
Gtf2ird2	C	T	5: 134,226,090 (GRCm39)	P179S	possibly damaging	Het
Hoga1	A	G	19: 42,048,716 (GRCm39)	I145V	probably benign	Het
Igfn1	G	T	1: 135,895,698 (GRCm39)	Q1623K	probably benign	Het
Jsrp1	T	A	10: 80,647,940 (GRCm39)		probably null	Het
Krt90	A	C	15: 101,470,779 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,808,810 (GRCm39)	S514T	probably benign	Het
Mad2l1	T	C	6: 66,512,569 (GRCm39)	V20A	probably damaging	Het
Malrd1	T	C	2: 15,757,706 (GRCm39)		probably null	Het
Matn2	A	C	15: 34,423,876 (GRCm39)	E578A	possibly damaging	Het
Nemp1	T	A	10: 127,528,845 (GRCm39)	I183N	probably benign	Het
Nid1	A	G	13: 13,683,386 (GRCm39)	T1155A	probably benign	Het
Nsd1	T	C	13: 55,461,506 (GRCm39)	S2681P	probably benign	Het
Onecut3	C	A	10: 80,349,750 (GRCm39)	R415S	probably damaging	Het
Or2d2	T	C	7: 106,728,019 (GRCm39)	T194A	probably benign	Het
Or4s2	T	A	2: 88,473,183 (GRCm39)	V24E	possibly damaging	Het
Pclo	T	A	5: 14,764,398 (GRCm39)	S1005R		Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
R3hcc1l	G	A	19: 42,552,073 (GRCm39)	V357M	probably damaging	Het
Sec63	C	T	10: 42,686,905 (GRCm39)	T475M	possibly damaging	Het
Serpinh1	A	G	7: 98,996,359 (GRCm39)	Y242H	probably damaging	Het
Slit2	G	T	5: 48,459,829 (GRCm39)	E1370*	probably null	Het
Sos2	C	A	12: 69,695,310 (GRCm39)	L142F	probably damaging	Het
Spag4	T	C	2: 155,908,493 (GRCm39)	L141P	possibly damaging	Het
Sun1	T	C	5: 139,222,444 (GRCm39)	L570P	probably damaging	Het
Tars2	A	G	3: 95,648,672 (GRCm39)	V662A	probably benign	Het
Tmem245	C	A	4: 56,899,025 (GRCm39)		probably null	Het
Tpp2	T	A	1: 43,999,295 (GRCm39)	Y356*	probably null	Het
Trafd1	T	C	5: 121,513,878 (GRCm39)	E303G	probably damaging	Het
Trim71	T	C	9: 114,342,605 (GRCm39)	E559G	possibly damaging	Het
Ush2a	T	A	1: 188,644,141 (GRCm39)	V4501E	possibly damaging	Het
Vegfa	T	C	17: 46,342,465 (GRCm39)	T118A	probably damaging	Het
Vmn2r124	A	T	17: 18,294,094 (GRCm39)	H727L	probably benign	Het
Zdhhc2	T	A	8: 40,920,551 (GRCm39)	V270E	probably damaging	Het
Zfp112	T	C	7: 23,824,997 (GRCm39)	S326P	probably benign	Het
Zfp37	T	C	4: 62,110,371 (GRCm39)	D272G	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
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
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'- TGGGGTTATAGGAGCCTCTC -3'
(R):5'- GGCCTCTCATCCAGTACTTGAC -3'

Sequencing Primer
(F):5'- TGGCTGTGCTTTCTACCTAAG -3'
(R):5'- CTCATCCAGTACTTGACAGAGAGTG -3'

Posted On

2021-03-08