Mutagenetix > Incidental Mutation

Incidental Mutation 'R0322:Mymk'

25598

Institutional Source

Beutler Lab

Gene Symbol

Mymk

Ensembl Gene

ENSMUSG00000009214

Gene Name

myomaker, myoblast fusion factor

Synonyms

1110002H13Rik, Tmem8c

MMRRC Submission

038532-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0322 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

26951648-26962173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26957418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 66 (L66Q)

Ref Sequence

ENSEMBL: ENSMUSP00000009358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009358] [ENSMUST00000163967]

AlphaFold

Q9D1N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000009358
AA Change: L66Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009358
Gene: ENSMUSG00000009214
AA Change: L66Q

Domain	Start	End	E-Value	Type
Pfam:DUF3522	3	185	1.1e-48	PFAM
low complexity region	196	210	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163967
AA Change: L25Q

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

SMART Domains

Protein: ENSMUSP00000128491
Gene: ENSMUSG00000009214
AA Change: L25Q

Domain	Start	End	E-Value	Type
Pfam:DUF3522	4	144	9e-41	PFAM
low complexity region	155	169	N/A	INTRINSIC

Meta Mutation Damage Score

0.8876

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.8%
20x: 84.3%

Validation Efficiency

98% (58/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, paralysis, kyphosis and defective myoblast fusion and survival leading to the absence of differentiated muscle in the trunk, limb and head. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,768 (GRCm39)	S275T	possibly damaging	Het
Adam34	G	T	8: 44,104,958 (GRCm39)	T229N	probably benign	Het
Adgrb3	C	A	1: 25,260,829 (GRCm39)		probably benign	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Arl9	A	G	5: 77,155,037 (GRCm39)		probably benign	Het
Bub1b	G	A	2: 118,470,099 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,678,844 (GRCm39)		probably benign	Het
Cobl	T	A	11: 12,217,072 (GRCm39)	E465V	probably damaging	Het
Cobll1	A	T	2: 64,932,442 (GRCm39)	M520K	possibly damaging	Het
Dll3	A	G	7: 27,995,793 (GRCm39)	V336A	possibly damaging	Het
Dnmbp	T	C	19: 43,843,285 (GRCm39)	H1193R	probably damaging	Het
Fbxo43	T	C	15: 36,152,338 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gjc3	A	T	5: 137,955,760 (GRCm39)	M175K	possibly damaging	Het
Gpc5	T	A	14: 115,636,563 (GRCm39)	N415K	probably benign	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Il7r	A	T	15: 9,510,301 (GRCm39)	F251I	probably benign	Het
Insc	A	G	7: 114,391,500 (GRCm39)	E141G	probably damaging	Het
Itm2c	C	T	1: 85,834,751 (GRCm39)	T160M	probably damaging	Het
Mboat1	T	C	13: 30,416,063 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,538,109 (GRCm39)	H96Q	possibly damaging	Het
Mettl13	A	G	1: 162,371,745 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	C	10: 39,823,526 (GRCm39)	N245D	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Myo18a	T	C	11: 77,720,626 (GRCm39)	S767P	probably damaging	Het
Ndufa8	T	C	2: 35,926,634 (GRCm39)	D134G	probably benign	Het
Noxa1	A	G	2: 24,982,566 (GRCm39)	F83S	probably damaging	Het
Npc1l1	T	A	11: 6,179,042 (GRCm39)	I123L	probably benign	Het
Ogdhl	A	G	14: 32,059,534 (GRCm39)	T394A	probably benign	Het
Or4s2b	T	C	2: 88,509,011 (GRCm39)	S264P	probably damaging	Het
Or5ae1	A	G	7: 84,565,521 (GRCm39)	Y178C	probably damaging	Het
Pcdh20	T	C	14: 88,706,383 (GRCm39)	T306A	probably benign	Het
Pcid2	G	A	8: 13,140,775 (GRCm39)		probably benign	Het
Phyhip	G	A	14: 70,700,836 (GRCm39)	V108M	possibly damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Psmb4	A	G	3: 94,793,402 (GRCm39)	Y160H	probably benign	Het
Riox2	A	T	16: 59,309,752 (GRCm39)	K369*	probably null	Het
Rnf26rt	T	C	6: 76,473,401 (GRCm39)	Y405C	probably benign	Het
Sh3tc1	G	A	5: 35,863,905 (GRCm39)	P761S	possibly damaging	Het
Slc6a3	T	A	13: 73,709,045 (GRCm39)	V323D	possibly damaging	Het
Smg7	A	G	1: 152,725,624 (GRCm39)		probably null	Het
Srrt	G	A	5: 137,294,870 (GRCm39)	R370C	probably damaging	Het
Stc1	T	C	14: 69,266,858 (GRCm39)	V7A	probably benign	Het
Svep1	G	T	4: 58,057,996 (GRCm39)		probably benign	Het
Tbpl2	A	G	2: 23,984,991 (GRCm39)	V51A	probably benign	Het
Tecr	A	G	8: 84,298,872 (GRCm39)	Y248H	probably damaging	Het
Tenm3	A	G	8: 48,689,947 (GRCm39)		probably benign	Het
Tia1	C	T	6: 86,397,369 (GRCm39)	A114V	probably damaging	Het
Tmprss11f	A	T	5: 86,739,275 (GRCm39)	M2K	probably benign	Het
Tnfsf8	T	C	4: 63,752,403 (GRCm39)	T221A	probably damaging	Het
Tubgcp5	G	A	7: 55,464,726 (GRCm39)	G536S	probably damaging	Het
Tyr	A	T	7: 87,142,125 (GRCm39)	I145N	probably benign	Het
Ubr4	T	A	4: 139,149,729 (GRCm39)	V1809E	probably damaging	Het
Vmn2r65	A	T	7: 84,595,756 (GRCm39)	N309K	probably benign	Het

Other mutations in Mymk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mymk	APN	2	26,952,799 (GRCm39)	missense	probably damaging	1.00
IGL01947:Mymk	APN	2	26,956,406 (GRCm39)	missense	possibly damaging	0.93
R0173:Mymk	UTSW	2	26,952,262 (GRCm39)	missense	probably damaging	1.00
R1686:Mymk	UTSW	2	26,952,346 (GRCm39)	missense	probably damaging	1.00
R4583:Mymk	UTSW	2	26,952,292 (GRCm39)	missense	probably benign	0.01
R4610:Mymk	UTSW	2	26,952,719 (GRCm39)	missense	probably damaging	1.00
R5147:Mymk	UTSW	2	26,952,299 (GRCm39)	missense	probably benign	0.14
R5220:Mymk	UTSW	2	26,952,226 (GRCm39)	missense	probably benign	0.00
R5237:Mymk	UTSW	2	26,952,200 (GRCm39)	makesense	probably null
R6189:Mymk	UTSW	2	26,957,377 (GRCm39)	missense	possibly damaging	0.53
R6610:Mymk	UTSW	2	26,957,405 (GRCm39)	missense	possibly damaging	0.94
R7257:Mymk	UTSW	2	26,957,380 (GRCm39)	missense	probably damaging	0.99
R7870:Mymk	UTSW	2	26,952,298 (GRCm39)	missense	probably damaging	0.96
R8264:Mymk	UTSW	2	26,957,868 (GRCm39)	start gained	probably benign
R8507:Mymk	UTSW	2	26,952,712 (GRCm39)	critical splice donor site	probably null
R8784:Mymk	UTSW	2	26,961,947 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GATTAAGCTCTGCAAAGCAGCAAGG -3'
(R):5'- TTTGCACTCCCAGGCTAGATGGAC -3'

Sequencing Primer
(F):5'- GCAAGGAGGGAGGATCTCAG -3'
(R):5'- ACCTGTTTAATCTCCACAAGGG -3'

Posted On

2013-04-16