Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00429:Mymk'

7253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mymk

Ensembl Gene

ENSMUSG00000009214

Gene Name

myomaker, myoblast fusion factor

Synonyms

1110002H13Rik, Tmem8c

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

27061636-27072179 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27062787 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 103 (Y103C)

Ref Sequence

ENSEMBL: ENSMUSP00000128491 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000009358
AA Change: Y144C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000009358
Gene: ENSMUSG00000009214
AA Change: Y144C

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: Y103C

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

SMART Domains

Protein: ENSMUSP00000128491
Gene: ENSMUSG00000009214
AA Change: Y103C

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,893,839		probably benign	Het
4933411K16Rik	T	C	19: 42,052,544	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255		probably null	Het
Abca15	T	A	7: 120,397,054	I1401N	probably damaging	Het
Adam3	A	C	8: 24,694,278	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,905,768	S458G	probably damaging	Het
Asxl3	C	T	18: 22,525,223	P2097S	probably benign	Het
AW551984	T	C	9: 39,592,849	D607G	probably benign	Het
Ccdc158	C	A	5: 92,657,881	M338I	probably benign	Het
Cdh23	A	G	10: 60,421,141	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,362	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,574,974		probably benign	Het
Dus4l	A	G	12: 31,641,669	V180A	probably benign	Het
Dysf	A	T	6: 84,189,844	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,268	L141Q	probably damaging	Het
Fhod3	A	G	18: 24,994,540	E313G	probably damaging	Het
Gm4884	A	G	7: 41,044,385	T593A	probably benign	Het
Hist1h2bm	T	C	13: 21,722,140	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,498,652	E526K	possibly damaging	Het
Lama4	A	T	10: 39,011,026	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,783,136	Q48P	probably damaging	Het
Magi3	T	A	3: 104,014,978	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,802,813	F237L	probably damaging	Het
Mst1r	A	T	9: 107,913,250		probably benign	Het
Myh2	C	T	11: 67,180,790	Q478*	probably null	Het
Mylip	C	A	13: 45,408,567	P282T	probably benign	Het
Necab1	A	T	4: 15,052,656	N107K	probably damaging	Het
Pclo	T	C	5: 14,680,739		probably benign	Het
Phgdh	T	C	3: 98,328,315	K129E	probably damaging	Het
Plxna4	T	C	6: 32,162,091	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205		probably benign	Het
Ppfibp2	A	G	7: 107,697,594	T172A	probably benign	Het
Prkca	T	C	11: 108,343,508	T54A	probably benign	Het
Prlr	A	G	15: 10,328,324	D295G	probably benign	Het
Rdh12	A	G	12: 79,211,402	I68V	probably benign	Het
Slc14a2	A	G	18: 78,150,438	F850L	possibly damaging	Het
Smad2	A	T	18: 76,298,495	S185C	possibly damaging	Het
Soga1	A	C	2: 157,030,864	F909C	probably damaging	Het
Trav13n-4	T	A	14: 53,363,831	L19Q	probably benign	Het
Ush2a	T	A	1: 188,400,114	C844*	probably null	Het
Vwce	T	A	19: 10,664,511		probably null	Het
Wdr95	T	C	5: 149,595,244		probably benign	Het
Zfp143	T	C	7: 110,091,772	I510T	probably damaging	Het
Zfp930	G	T	8: 69,227,982	K90N	probably damaging	Het

Other mutations in Mymk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Mymk	APN	2	27066394	missense	possibly damaging	0.93
R0173:Mymk	UTSW	2	27062250	missense	probably damaging	1.00
R0322:Mymk	UTSW	2	27067406	missense	probably damaging	1.00
R1686:Mymk	UTSW	2	27062334	missense	probably damaging	1.00
R4583:Mymk	UTSW	2	27062280	missense	probably benign	0.01
R4610:Mymk	UTSW	2	27062707	missense	probably damaging	1.00
R5147:Mymk	UTSW	2	27062287	missense	probably benign	0.14
R5220:Mymk	UTSW	2	27062214	missense	probably benign	0.00
R5237:Mymk	UTSW	2	27062188	makesense	probably null
R6189:Mymk	UTSW	2	27067365	missense	possibly damaging	0.53
R6610:Mymk	UTSW	2	27067393	missense	possibly damaging	0.94
R7257:Mymk	UTSW	2	27067368	missense	probably damaging	0.99
R7870:Mymk	UTSW	2	27062286	missense	probably damaging	0.96
R7953:Mymk	UTSW	2	27062286	missense	probably damaging	0.96

Posted On

2012-04-20