Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01572:BC051076'

91135

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC051076

Ensembl Gene

ENSMUSG00000055961

Gene Name

cDNA sequence BC051076

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01572

Quality Score

Status

Chromosome

Chromosomal Location

88111344-88114211 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 88112549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007601

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069773

SMART Domains

Protein: ENSMUSP00000070337
Gene: ENSMUSG00000055961

Domain	Start	End	E-Value	Type
coiled coil region	39	145	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
low complexity region	265	295	N/A	INTRINSIC
low complexity region	307	335	N/A	INTRINSIC
low complexity region	350	361	N/A	INTRINSIC
low complexity region	405	424	N/A	INTRINSIC
low complexity region	439	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199477

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	A	G	5: 67,824,994 (GRCm39)	V779A	probably benign	Het
Atrn	T	C	2: 130,844,715 (GRCm39)	S1199P	probably damaging	Het
Cdh17	T	C	4: 11,784,621 (GRCm39)		probably benign	Het
Ceacam20	T	C	7: 19,708,199 (GRCm39)	V268A	probably damaging	Het
Cntn2	T	G	1: 132,455,909 (GRCm39)	D203A	probably damaging	Het
Cped1	A	G	6: 22,051,300 (GRCm39)	N148D	probably benign	Het
Dnah10	T	A	5: 124,861,010 (GRCm39)	V2131E	probably damaging	Het
Dsn1	A	G	2: 156,841,054 (GRCm39)		probably null	Het
Eif5b	A	T	1: 38,061,335 (GRCm39)	K409*	probably null	Het
Fam237b	T	A	5: 5,625,475 (GRCm39)	I57K	probably damaging	Het
Gaa	T	C	11: 119,175,003 (GRCm39)	V868A	probably benign	Het
Igf1r	A	G	7: 67,843,189 (GRCm39)	T767A	probably benign	Het
Ints7	T	A	1: 191,347,905 (GRCm39)	V759E	possibly damaging	Het
Jarid2	A	G	13: 45,038,311 (GRCm39)	T171A	probably damaging	Het
Krt33b	T	C	11: 99,917,378 (GRCm39)	D158G	probably damaging	Het
Krt87	T	C	15: 101,334,414 (GRCm39)	R198G	probably benign	Het
Mst1r	C	A	9: 107,788,791 (GRCm39)	R437S	probably damaging	Het
Myh15	T	A	16: 48,920,585 (GRCm39)	I458K	possibly damaging	Het
Or8k37	T	C	2: 86,469,283 (GRCm39)	I256M	possibly damaging	Het
Scn9a	A	T	2: 66,324,230 (GRCm39)	N1418K	probably benign	Het
Sppl2a	A	G	2: 126,762,232 (GRCm39)		probably null	Het
Styxl2	G	T	1: 165,927,941 (GRCm39)	A557E	probably benign	Het
Zfp595	A	T	13: 67,465,465 (GRCm39)	I266K	possibly damaging	Het

Other mutations in BC051076

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00325:BC051076	APN	5	88,112,354 (GRCm39)	unclassified	probably benign
IGL03263:BC051076	APN	5	88,111,977 (GRCm39)	exon	noncoding transcript
R0545:BC051076	UTSW	5	88,111,349 (GRCm39)	exon	noncoding transcript
R2058:BC051076	UTSW	5	88,111,844 (GRCm39)	exon	noncoding transcript
R2408:BC051076	UTSW	5	88,111,684 (GRCm39)	exon	noncoding transcript
R3956:BC051076	UTSW	5	88,112,110 (GRCm39)	exon	noncoding transcript

Posted On

2013-12-09