Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

26951648-26962173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26952799 bp (GRCm39)

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]

AlphaFold

Q9D1N4

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: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
Asxl3	C	T	18: 22,658,280 (GRCm39)	P2097S	probably benign	Het
AW551984	T	C	9: 39,504,145 (GRCm39)	D607G	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Fhod3	A	G	18: 25,127,597 (GRCm39)	E313G	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Necab1	A	T	4: 15,052,656 (GRCm39)	N107K	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in Mymk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0322:Mymk	UTSW	2	26,957,418 (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

Posted On

2012-04-20