Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:1300017J02Rik'

290898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1300017J02Rik

Ensembl Gene

ENSMUSG00000033688

Gene Name

RIKEN cDNA 1300017J02 gene

Synonyms

mICA

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

103250521-103305082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103263074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 482 (V482A)

Ref Sequence

ENSEMBL: ENSMUSP00000035163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530]

AlphaFold

Q9DBD0

PDB Structure

Crystal Structure of the Murine Inhibitor of Carbonic Anhydrase [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035163
AA Change: V482A

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: V482A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.48e-163	SMART
TR_FER	355	697	3.26e-179	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123530
AA Change: V404A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: V404A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	351	3.67e-164	SMART
TR_FER	352	619	5.89e-104	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154357
AA Change: V45A

SMART Domains

Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: V45A

Domain	Start	End	E-Value	Type
TR_FER	1	242	5.88e-81	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Myrf	T	C	19: 10,214,140	N945D	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in 1300017J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:1300017J02Rik	APN	9	103254776	missense	possibly damaging	0.48
IGL02899:1300017J02Rik	APN	9	103277574	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0206:1300017J02Rik	UTSW	9	103282662	missense	probably damaging	1.00
R0831:1300017J02Rik	UTSW	9	103269779	missense	possibly damaging	0.50
R0849:1300017J02Rik	UTSW	9	103263057	missense	possibly damaging	0.94
R1225:1300017J02Rik	UTSW	9	103254839	splice site	probably benign
R2061:1300017J02Rik	UTSW	9	103268314	missense	probably benign	0.01
R2176:1300017J02Rik	UTSW	9	103259367	splice site	probably benign
R4915:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R4917:1300017J02Rik	UTSW	9	103251855	nonsense	probably null
R5020:1300017J02Rik	UTSW	9	103282502	missense	probably benign	0.02
R5033:1300017J02Rik	UTSW	9	103279414	missense	probably benign	0.36
R5087:1300017J02Rik	UTSW	9	103266221	missense	probably damaging	0.98
R5174:1300017J02Rik	UTSW	9	103282556	splice site	probably null
R6283:1300017J02Rik	UTSW	9	103282635	nonsense	probably null
R7092:1300017J02Rik	UTSW	9	103281043	missense	possibly damaging	0.55
R7175:1300017J02Rik	UTSW	9	103251789	critical splice donor site	probably null
R7347:1300017J02Rik	UTSW	9	103282646	missense	possibly damaging	0.67
R7380:1300017J02Rik	UTSW	9	103279481	nonsense	probably null
R7400:1300017J02Rik	UTSW	9	103250662	missense	probably benign	0.25
R7460:1300017J02Rik	UTSW	9	103254648	missense	probably benign	0.00
R7993:1300017J02Rik	UTSW	9	103263133	missense	probably benign
R8056:1300017J02Rik	UTSW	9	103266224	missense	probably damaging	1.00
R8686:1300017J02Rik	UTSW	9	103259428	missense	probably benign	0.00
R8869:1300017J02Rik	UTSW	9	103272632	missense	probably damaging	1.00
R9371:1300017J02Rik	UTSW	9	103281053	missense	probably benign	0.01
R9448:1300017J02Rik	UTSW	9	103272582	missense	probably benign
R9719:1300017J02Rik	UTSW	9	103254815	missense	probably benign	0.42

Posted On

2015-04-16