Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01947:Mymk'

181254

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 #

IGL01947

Quality Score

Status

Chromosome

Chromosomal Location

26951648-26962173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26956406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 58 (L58R)

Ref Sequence

ENSEMBL: ENSMUSP00000128491 (fasta)

Gene Model

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

AlphaFold

Q9D1N4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009358
AA Change: L99R

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009358
Gene: ENSMUSG00000009214
AA Change: L99R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163967
AA Change: L58R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128491
Gene: ENSMUSG00000009214
AA Change: L58R

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,428 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,033,847 (GRCm39)		probably benign	Het
Atic	C	T	1: 71,609,996 (GRCm39)		probably benign	Het
Avpr1a	T	C	10: 122,288,087 (GRCm39)	V365A	probably benign	Het
Brd7	A	G	8: 89,059,503 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,845,579 (GRCm39)	N332D	probably damaging	Het
Cdh20	C	T	1: 104,921,649 (GRCm39)	P649S	possibly damaging	Het
Cgnl1	T	C	9: 71,632,326 (GRCm39)	T342A	probably damaging	Het
Chst10	A	G	1: 38,904,646 (GRCm39)	L349P	probably damaging	Het
Cox6b2	T	A	7: 4,754,929 (GRCm39)	K77*	probably null	Het
Crnkl1	G	A	2: 145,763,744 (GRCm39)	A498V	probably benign	Het
Cux1	A	G	5: 136,303,979 (GRCm39)	L1394P	probably benign	Het
Dapp1	T	C	3: 137,641,404 (GRCm39)	Y197C	probably damaging	Het
Dcc	A	G	18: 71,959,280 (GRCm39)	I164T	probably benign	Het
Disp3	T	A	4: 148,344,976 (GRCm39)	I472F	probably damaging	Het
Gm10392	A	T	11: 77,408,306 (GRCm39)	D104E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gpd1	A	G	15: 99,618,112 (GRCm39)	I143V	possibly damaging	Het
Hmcn1	T	A	1: 150,608,643 (GRCm39)	N1513I	possibly damaging	Het
Jakmip2	T	C	18: 43,680,159 (GRCm39)	I733V	probably benign	Het
Klhl12	T	A	1: 134,391,689 (GRCm39)	L107H	probably damaging	Het
Lcn8	A	G	2: 25,545,157 (GRCm39)	D109G	probably damaging	Het
Maz	A	T	7: 126,623,614 (GRCm39)		probably null	Het
Mttp	T	A	3: 137,812,890 (GRCm39)	D595V	probably damaging	Het
Nckap1	A	C	2: 80,339,097 (GRCm39)	I977S	probably damaging	Het
Nckap1l	A	T	15: 103,399,442 (GRCm39)	I1021F	probably benign	Het
Or12d2	A	T	17: 37,624,556 (GRCm39)	C240S	probably damaging	Het
Or4f14b	A	T	2: 111,775,339 (GRCm39)	M154K	probably benign	Het
Or4f6	A	T	2: 111,839,361 (GRCm39)	S57T	possibly damaging	Het
Or6c38	G	A	10: 128,929,747 (GRCm39)	T32I	possibly damaging	Het
Pde5a	T	A	3: 122,629,259 (GRCm39)	F644L	probably damaging	Het
Pdzd2	A	G	15: 12,592,440 (GRCm39)	I68T	probably damaging	Het
Pik3r4	T	A	9: 105,563,349 (GRCm39)	V1242D	possibly damaging	Het
Ppp6r2	G	T	15: 89,162,929 (GRCm39)	W517L	probably damaging	Het
Scrib	A	T	15: 75,933,616 (GRCm39)	I703K	probably benign	Het
Serpina1b	T	C	12: 103,695,576 (GRCm39)	S322G	probably benign	Het
Siglecg	C	A	7: 43,058,187 (GRCm39)	Q25K	probably benign	Het
Slc12a3	G	A	8: 95,092,447 (GRCm39)		probably null	Het
Slc6a13	G	T	6: 121,302,116 (GRCm39)		probably null	Het
Stard13	A	T	5: 150,986,309 (GRCm39)	D282E	probably damaging	Het
Tpte	A	T	8: 22,845,489 (GRCm39)	Y513F	possibly damaging	Het
Ubox5	T	A	2: 130,442,579 (GRCm39)	K36I	possibly damaging	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
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

2014-05-07