Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02954:D6Wsu163e'

365056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D6Wsu163e

Ensembl Gene

ENSMUSG00000030347

Gene Name

DNA segment, Chr 6, Wayne State University 163, expressed

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02954

Quality Score

Status

Chromosome

Chromosomal Location

126916938-126952667 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 126951441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032497]

AlphaFold

Q91YN0

Predicted Effect

probably benign
Transcript: ENSMUST00000032497

SMART Domains

Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347

Domain	Start	End	E-Value	Type
Pfam:DUF2362	41	546	4.4e-218	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202086

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	T	5: 8,782,341 (GRCm39)	R908L	probably benign	Het
Abcc9	T	C	6: 142,592,007 (GRCm39)	N774S	probably damaging	Het
Alpk2	C	T	18: 65,439,207 (GRCm39)	V729I	probably benign	Het
Atf3	T	C	1: 190,903,852 (GRCm39)	N125D	probably damaging	Het
Bcat1	C	T	6: 144,964,945 (GRCm39)	G215D	probably damaging	Het
Bptf	G	T	11: 106,945,575 (GRCm39)	Q2555K	possibly damaging	Het
Cthrc1	A	G	15: 38,940,389 (GRCm39)		probably benign	Het
Cyp2c38	A	G	19: 39,379,520 (GRCm39)	M443T	probably damaging	Het
Dgkg	T	A	16: 22,441,003 (GRCm39)	E3D	probably benign	Het
Dnah8	G	T	17: 30,923,809 (GRCm39)	R1259L	probably benign	Het
Dnah9	A	G	11: 66,009,793 (GRCm39)	L698P	probably damaging	Het
Ebag9	A	C	15: 44,493,601 (GRCm39)	H141P	probably benign	Het
Emilin2	T	C	17: 71,563,526 (GRCm39)	R840G	probably benign	Het
Faap100	A	T	11: 120,262,957 (GRCm39)	H800Q	probably damaging	Het
Fh1	A	T	1: 175,437,301 (GRCm39)	I266N	probably damaging	Het
Fkbp15	A	G	4: 62,239,302 (GRCm39)		probably benign	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gm5773	G	T	3: 93,680,358 (GRCm39)	W10L	probably benign	Het
Gng13	T	C	17: 25,937,726 (GRCm39)	Y18H	probably damaging	Het
Hivep3	T	C	4: 119,990,838 (GRCm39)	S2113P	probably damaging	Het
Ift81	A	T	5: 122,748,248 (GRCm39)		probably benign	Het
Irak3	A	C	10: 120,012,147 (GRCm39)	L206V	probably damaging	Het
Kcng4	C	T	8: 120,359,792 (GRCm39)	A195T	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Nars2	T	G	7: 96,689,100 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,814,648 (GRCm39)	V234A	probably benign	Het
Or12j4	A	T	7: 140,046,353 (GRCm39)	K80*	probably null	Het
Or1o4	T	A	17: 37,591,195 (GRCm39)	N39Y	probably damaging	Het
Patz1	A	G	11: 3,241,761 (GRCm39)	Y383C	probably damaging	Het
Pdcd5	T	C	7: 35,343,089 (GRCm39)	Y152C	probably damaging	Het
Phkg1	A	G	5: 129,894,910 (GRCm39)	W214R	probably damaging	Het
Plxna1	A	G	6: 89,301,649 (GRCm39)	L1459P	probably damaging	Het
Pspc1	G	A	14: 57,009,217 (GRCm39)	P206S	probably benign	Het
St7	A	T	6: 17,848,030 (GRCm39)	N198I	probably damaging	Het
Supt3	A	G	17: 45,349,015 (GRCm39)	D249G	probably damaging	Het
Taf1c	T	C	8: 120,327,225 (GRCm39)	Y418C	probably damaging	Het
Tdrd6	A	G	17: 43,938,153 (GRCm39)	V965A	possibly damaging	Het
Ugt2b35	A	G	5: 87,159,180 (GRCm39)	N458S	probably benign	Het
Vmn1r8	A	G	6: 57,013,315 (GRCm39)	Y122C	probably benign	Het

Other mutations in D6Wsu163e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:D6Wsu163e	APN	6	126,921,815 (GRCm39)	missense	possibly damaging	0.89
IGL02019:D6Wsu163e	APN	6	126,932,184 (GRCm39)	missense	probably damaging	1.00
IGL02890:D6Wsu163e	APN	6	126,951,450 (GRCm39)	missense	probably damaging	1.00
IGL03179:D6Wsu163e	APN	6	126,927,074 (GRCm39)	missense	probably damaging	1.00
R0267:D6Wsu163e	UTSW	6	126,923,454 (GRCm39)	missense	probably benign	0.17
R1405:D6Wsu163e	UTSW	6	126,951,446 (GRCm39)	splice site	probably benign
R1483:D6Wsu163e	UTSW	6	126,931,733 (GRCm39)	missense	probably benign	0.03
R1636:D6Wsu163e	UTSW	6	126,923,564 (GRCm39)	missense	possibly damaging	0.54
R1847:D6Wsu163e	UTSW	6	126,932,112 (GRCm39)	missense	probably damaging	1.00
R5883:D6Wsu163e	UTSW	6	126,943,879 (GRCm39)	missense	probably damaging	1.00
R7402:D6Wsu163e	UTSW	6	126,938,968 (GRCm39)	missense	probably damaging	0.98
R7587:D6Wsu163e	UTSW	6	126,932,859 (GRCm39)	missense	probably benign	0.00
R8229:D6Wsu163e	UTSW	6	126,943,966 (GRCm39)	missense	probably benign	0.12
R8347:D6Wsu163e	UTSW	6	126,932,251 (GRCm39)	nonsense	probably null
R8732:D6Wsu163e	UTSW	6	126,932,859 (GRCm39)	missense	possibly damaging	0.72
R8903:D6Wsu163e	UTSW	6	126,931,778 (GRCm39)	missense	probably damaging	1.00
R9206:D6Wsu163e	UTSW	6	126,943,932 (GRCm39)	missense	probably benign	0.02
R9208:D6Wsu163e	UTSW	6	126,943,932 (GRCm39)	missense	probably benign	0.02
R9333:D6Wsu163e	UTSW	6	126,952,096 (GRCm39)	missense	probably damaging	0.99
R9747:D6Wsu163e	UTSW	6	126,938,977 (GRCm39)	missense	probably benign	0.15

Posted On

2015-12-18