Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00672:2310030G06Rik'

8437

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2310030G06Rik

Ensembl Gene

ENSMUSG00000032062

Gene Name

RIKEN cDNA 2310030G06 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL00672

Quality Score

Status

Chromosome

Chromosomal Location

50650991-50657827 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 50657736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034564] [ENSMUST00000042790] [ENSMUST00000217159] [ENSMUST00000217475]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034564

SMART Domains

Protein: ENSMUSP00000034564
Gene: ENSMUSG00000032062

Domain	Start	End	E-Value	Type
Pfam:DUF4578	15	140	1.7e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042790

SMART Domains

Protein: ENSMUSP00000042374
Gene: ENSMUSG00000038086

Domain	Start	End	E-Value	Type
Pfam:Crystallin	14	55	1.6e-8	PFAM
Pfam:HSP20	66	163	5.7e-19	PFAM
low complexity region	166	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215877

Predicted Effect

probably benign
Transcript: ENSMUST00000217159

Predicted Effect

probably benign
Transcript: ENSMUST00000217475

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,238,986 (GRCm39)	I744T	probably damaging	Het
Akap11	G	A	14: 78,748,781 (GRCm39)	A1202V	probably damaging	Het
C130032M10Rik	A	G	9: 114,344,898 (GRCm39)	V340A	probably damaging	Het
Csnk1g1	G	T	9: 65,915,028 (GRCm39)	S229I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,697 (GRCm39)	S410G	probably benign	Het
Eif2s2	T	A	2: 154,729,629 (GRCm39)	I98L	probably benign	Het
En1	T	C	1: 120,534,667 (GRCm39)	F319L	unknown	Het
Fmnl3	A	T	15: 99,223,562 (GRCm39)	Y345N	probably damaging	Het
Fras1	T	C	5: 96,907,309 (GRCm39)		probably benign	Het
Gm12695	A	G	4: 96,637,419 (GRCm39)	L366P	probably damaging	Het
Golga3	T	C	5: 110,360,110 (GRCm39)	L1156S	probably damaging	Het
Gpcpd1	G	T	2: 132,372,468 (GRCm39)		probably benign	Het
Hvcn1	C	A	5: 122,376,534 (GRCm39)	F155L	probably benign	Het
Jcad	T	C	18: 4,674,835 (GRCm39)	S866P	possibly damaging	Het
Kdm4c	A	G	4: 74,261,751 (GRCm39)	N642S	probably benign	Het
Kif2c	T	C	4: 117,035,443 (GRCm39)	I2V	probably benign	Het
Klri2	T	A	6: 129,710,034 (GRCm39)	I189F	probably damaging	Het
Lair1	T	A	7: 4,031,730 (GRCm39)	T126S	probably benign	Het
Lins1	A	T	7: 66,364,279 (GRCm39)	K725*	probably null	Het
Lman2l	T	A	1: 36,477,915 (GRCm39)		probably null	Het
Map3k10	T	C	7: 27,361,026 (GRCm39)	K496E	probably damaging	Het
Nr2f2	A	G	7: 70,007,514 (GRCm39)	S170P	possibly damaging	Het
Polr1b	G	A	2: 128,967,392 (GRCm39)	M928I	probably damaging	Het
Rffl	G	A	11: 82,709,310 (GRCm39)	P38S	probably damaging	Het
Rtl1	T	C	12: 109,559,434 (GRCm39)	S802G	probably benign	Het
Sema5a	A	G	15: 32,619,026 (GRCm39)	E518G	probably benign	Het
Smdt1	G	A	15: 82,230,384 (GRCm39)	V34I	possibly damaging	Het
Ssr3	C	A	3: 65,298,831 (GRCm39)	A59S	probably benign	Het
Stk4	A	G	2: 163,959,999 (GRCm39)	K59E	probably benign	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Taf5	A	T	19: 47,070,740 (GRCm39)	D723V	probably damaging	Het
Tescl	T	C	7: 24,033,035 (GRCm39)	T97A	probably benign	Het
Thada	A	T	17: 84,751,646 (GRCm39)	S443R	probably benign	Het
Trp53bp2	A	T	1: 182,268,541 (GRCm39)	H205L	probably benign	Het
Ube4b	A	G	4: 149,465,823 (GRCm39)	V209A	probably benign	Het
Zfp957	G	T	14: 79,450,838 (GRCm39)	D320E	unknown	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	Het
Zmpste24	A	G	4: 120,923,057 (GRCm39)	I386T	probably damaging	Het

Other mutations in 2310030G06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1465:2310030G06Rik	UTSW	9	50,651,866 (GRCm39)	missense	probably damaging	1.00
R1465:2310030G06Rik	UTSW	9	50,651,866 (GRCm39)	missense	probably damaging	1.00
R1479:2310030G06Rik	UTSW	9	50,652,601 (GRCm39)	missense	possibly damaging	0.85
R1572:2310030G06Rik	UTSW	9	50,651,973 (GRCm39)	missense	probably damaging	0.99
R4487:2310030G06Rik	UTSW	9	50,651,931 (GRCm39)	missense	probably damaging	0.99
R4762:2310030G06Rik	UTSW	9	50,651,967 (GRCm39)	missense	probably damaging	1.00
R4839:2310030G06Rik	UTSW	9	50,652,023 (GRCm39)	nonsense	probably null

Posted On

2012-12-06