Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02229:0610040J01Rik'

285435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63898353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000142539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196367] [ENSMUST00000196575] [ENSMUST00000199667]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081747
AA Change: D144G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: D144G

Domain	Start	End	E-Value	Type
Pfam:DUF4699	9	313	2.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196367

Predicted Effect

probably benign
Transcript: ENSMUST00000196575
AA Change: D144G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably damaging
Transcript: ENSMUST00000199667
AA Change: D144G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	G	T	8: 95,003,511	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753	I591V	probably benign	Het
Cic	C	A	7: 25,290,950	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556	S397P	probably damaging	Het
D130043K22Rik	T	C	13: 24,875,924	Y593H	probably damaging	Het
Dck	A	G	5: 88,774,105	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077		probably null	Het
Gucy2f	A	G	X: 142,179,988	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428		probably benign	Het
Myo18b	A	G	5: 112,878,110	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800		probably benign	Het
Rab3gap2	A	G	1: 185,259,383	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169		probably benign	Het

Other mutations in 0610040J01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:0610040J01Rik	APN	5	63898383	missense	possibly damaging	0.79
IGL02389:0610040J01Rik	APN	5	63896483	missense	probably null	1.00
IGL02411:0610040J01Rik	APN	5	63898116	missense	probably benign	0.31
R0243:0610040J01Rik	UTSW	5	63898463	missense	probably benign	0.10
R0411:0610040J01Rik	UTSW	5	63896491	splice site	probably benign
R1978:0610040J01Rik	UTSW	5	63898537	nonsense	probably null
R2072:0610040J01Rik	UTSW	5	63898737	missense	possibly damaging	0.83
R2202:0610040J01Rik	UTSW	5	63898668	missense	possibly damaging	0.91
R3161:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R3162:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R4428:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4429:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4430:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4431:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4464:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4465:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4467:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4491:0610040J01Rik	UTSW	5	63898469	missense	probably damaging	1.00
R5161:0610040J01Rik	UTSW	5	63898001	nonsense	probably null
R6115:0610040J01Rik	UTSW	5	63897974	missense	probably damaging	1.00
R6273:0610040J01Rik	UTSW	5	63898218	missense	probably damaging	1.00
R7445:0610040J01Rik	UTSW	5	63898619	missense	probably damaging	0.99
R7593:0610040J01Rik	UTSW	5	63898431	missense	probably damaging	0.97
R8070:0610040J01Rik	UTSW	5	63898167	missense	probably benign	0.01
R8140:0610040J01Rik	UTSW	5	63898611	missense	possibly damaging	0.83
R8165:0610040J01Rik	UTSW	5	63897946	splice site	probably null
R8557:0610040J01Rik	UTSW	5	63898611	missense	probably benign	0.04
R9671:0610040J01Rik	UTSW	5	63898605	nonsense	probably null
R9782:0610040J01Rik	UTSW	5	63896453	start codon destroyed	probably null	1.00

Posted On

2015-04-16