Mutagenetix > Incidental Mutation

Incidental Mutation 'R1162:9430015G10Rik'

100452

Institutional Source

Beutler Lab

Gene Symbol

9430015G10Rik

Ensembl Gene

ENSMUSG00000059939

Gene Name

RIKEN cDNA 9430015G10 gene

Synonyms

MMRRC Submission

039235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156194455-156211720 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 156206875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131817 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072554] [ENSMUST00000105576] [ENSMUST00000169550] [ENSMUST00000169550]

AlphaFold

A2ASP7

Predicted Effect

probably null
Transcript: ENSMUST00000072554

SMART Domains

Protein: ENSMUSP00000072366
Gene: ENSMUSG00000059939

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4501	23	199	1.5e-94	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105576

SMART Domains

Protein: ENSMUSP00000101201
Gene: ENSMUSG00000059939

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4501	20	51	4e-12	PFAM
Pfam:DUF4501	49	167	7.7e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141882

Predicted Effect

probably null
Transcript: ENSMUST00000169550

SMART Domains

Protein: ENSMUSP00000131817
Gene: ENSMUSG00000059939

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4501	20	199	1e-109	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169550

SMART Domains

Protein: ENSMUSP00000131817
Gene: ENSMUSG00000059939

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4501	20	199	1e-109	PFAM

Meta Mutation Damage Score

0.8658

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

98% (55/56)

MGI Phenotype

PHENOTYPE: Homozygous mutant null mice show a decreased mean percentage of CD4 cells and an increased mean percentage of B cells in peripheral blood. Female mutant mice also exhibit abnormal thermal nociception, showing decreased sensitivity to acute pain during hot plate testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,277,544 (GRCm39)		probably null	Het
Ccn3	T	A	15: 54,611,178 (GRCm39)	C104*	probably null	Het
Cops4	T	C	5: 100,678,023 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgkh	A	G	14: 78,861,891 (GRCm39)	C125R	probably damaging	Het
Dgkz	A	T	2: 91,774,789 (GRCm39)	I65N	probably damaging	Het
Dock10	T	A	1: 80,546,559 (GRCm39)	H743L	possibly damaging	Het
Dscaml1	T	C	9: 45,663,647 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gbe1	A	T	16: 70,178,738 (GRCm39)		probably benign	Het
Gm7275	A	G	16: 47,894,395 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 35,002,905 (GRCm39)		probably benign	Het
Gpr137c	A	G	14: 45,481,615 (GRCm39)	I144V	possibly damaging	Het
Igsf9b	T	C	9: 27,238,185 (GRCm39)	S563P	probably benign	Het
Insl5	C	T	4: 102,875,438 (GRCm39)	R104Q	probably benign	Het
Kcnj2	T	A	11: 110,963,793 (GRCm39)	V395D	probably benign	Het
Ksr2	A	G	5: 117,693,020 (GRCm39)		probably benign	Het
Lrrc4	C	A	6: 28,831,083 (GRCm39)	L177F	probably damaging	Het
Mapkbp1	A	G	2: 119,855,799 (GRCm39)	E1506G	possibly damaging	Het
Morc3	A	C	16: 93,649,996 (GRCm39)	Y259S	probably damaging	Het
Mrpl43	T	G	19: 44,994,797 (GRCm39)	S13R	possibly damaging	Het
Myh4	A	G	11: 67,149,439 (GRCm39)	N1724D	probably damaging	Het
Nab1	A	G	1: 52,529,186 (GRCm39)	M237T	probably damaging	Het
Nav2	A	G	7: 49,185,788 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2h15	A	T	17: 38,441,984 (GRCm39)	V33D	possibly damaging	Het
Or5ac15	T	C	16: 58,939,735 (GRCm39)	R233G	probably damaging	Het
Or5p80	A	G	7: 108,230,120 (GRCm39)	N307S	probably benign	Het
Phf2	A	T	13: 48,973,117 (GRCm39)		probably benign	Het
Ppef2	A	C	5: 92,400,980 (GRCm39)	F13L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Sap130	C	T	18: 31,781,226 (GRCm39)	P130S	probably damaging	Het
Scn11a	A	G	9: 119,634,710 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,506,087 (GRCm39)	E940*	probably null	Het
Sgce	A	G	6: 4,691,419 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,600 (GRCm39)	I155N	probably damaging	Het
Sirt2	A	T	7: 28,485,247 (GRCm39)	D218V	probably damaging	Het
Slc16a10	T	C	10: 39,952,549 (GRCm39)	H315R	probably benign	Het
Sox5	A	G	6: 143,906,538 (GRCm39)	Y306H	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,483 (GRCm39)	V23A	probably damaging	Het
Trak1	G	T	9: 121,282,407 (GRCm39)	V429F	possibly damaging	Het
Trat1	T	C	16: 48,560,572 (GRCm39)	S102G	possibly damaging	Het
Trub1	G	A	19: 57,461,191 (GRCm39)	V156I	probably benign	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Unc13a	T	A	8: 72,100,561 (GRCm39)	T1076S	probably benign	Het
Vangl2	A	G	1: 171,832,414 (GRCm39)	Y481H	probably damaging	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r60	A	T	7: 41,845,195 (GRCm39)	I853F	probably benign	Het
Yrdc	T	C	4: 124,748,254 (GRCm39)		probably benign	Het
Zfp595	A	T	13: 67,465,259 (GRCm39)	C335S	probably damaging	Het
Zfp872	A	G	9: 22,110,910 (GRCm39)	S149G	possibly damaging	Het

Other mutations in 9430015G10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:9430015G10Rik	APN	4	156,203,613 (GRCm39)	splice site	probably benign
R3824:9430015G10Rik	UTSW	4	156,203,607 (GRCm39)	splice site	probably null
R5664:9430015G10Rik	UTSW	4	156,208,016 (GRCm39)	missense	probably damaging	1.00
R7711:9430015G10Rik	UTSW	4	156,203,649 (GRCm39)	missense	probably damaging	0.96
R8388:9430015G10Rik	UTSW	4	156,209,888 (GRCm39)	missense	probably damaging	1.00
Z1176:9430015G10Rik	UTSW	4	156,206,468 (GRCm39)	missense	probably benign	0.09
Z1177:9430015G10Rik	UTSW	4	156,206,834 (GRCm39)	missense	probably benign	0.38

Predicted Primers

Posted On

2014-01-15