Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:1300017J02Rik'

574109

Institutional Source

Beutler Lab

Gene Symbol

1300017J02Rik

Ensembl Gene

ENSMUSG00000033688

Gene Name

RIKEN cDNA 1300017J02 gene

Synonyms

mICA

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103250521-103305082 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103250662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 690 (E690V)

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: E690V

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: E690V

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: E612V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: E612V

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

probably benign
Transcript: ENSMUST00000154357

SMART Domains

Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,666,203	S118P	unknown	Het
Ahnak	T	A	19: 9,014,613	D4420E	probably damaging	Het
Atp5g2	C	T	15: 102,665,112	A90T	possibly damaging	Het
Batf2	A	G	19: 6,171,508	Y116C	probably damaging	Het
Cd48	G	A	1: 171,695,925	R112H	probably benign	Het
Cdh8	A	T	8: 99,279,560	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,408,267	S793A	probably benign	Het
Cmip	A	G	8: 117,257,405		probably null	Het
Cyp1a2	T	C	9: 57,681,940	N197S	probably benign	Het
Diaph1	T	C	18: 37,854,502	D1067G	probably damaging	Het
Disp2	T	C	2: 118,791,886	L1033P	probably damaging	Het
Dock6	G	T	9: 21,801,807	A1981D	possibly damaging	Het
Eci3	T	C	13: 34,959,977	D55G	probably benign	Het
Eea1	T	A	10: 95,995,570	D174E	probably benign	Het
Ehd2	T	C	7: 15,950,656	E406G	possibly damaging	Het
Erich3	A	G	3: 154,762,577	K889E		Het
Fat4	C	A	3: 38,887,924	T322K	probably damaging	Het
Fitm1	A	T	14: 55,576,769	I241F	possibly damaging	Het
Fscb	C	A	12: 64,471,617	S1025I	unknown	Het
Gm4070	T	A	7: 105,902,040	I602F	probably benign	Het
Gpsm2	T	A	3: 108,679,688	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,443,640	L75M	possibly damaging	Het
Hmcn1	T	C	1: 150,674,430	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,217,053	I118T	possibly damaging	Het
Hsp90ab1	A	G	17: 45,569,284	V473A	probably benign	Het
Ica1l	T	C	1: 60,042,642		probably null	Het
Ighv1-72	A	G	12: 115,758,217	S40P	probably damaging	Het
Kif28	A	C	1: 179,700,274	W771G	probably damaging	Het
Klf13	G	C	7: 63,938,248	A100G	probably benign	Het
Klhl5	A	G	5: 65,148,590	E300G	possibly damaging	Het
Krt40	A	G	11: 99,543,143	S6P	probably benign	Het
Map3k13	C	T	16: 21,922,322	R800W	probably damaging	Het
Mef2d	T	C	3: 88,167,731	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,300	M87K	probably damaging	Het
Mrgprd	T	A	7: 145,321,906	H171Q	probably benign	Het
Muc1	C	T	3: 89,230,646	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,860,113	N570D		Het
Nfs1	T	A	2: 156,126,323	I408F	probably damaging	Het
Npdc1	G	T	2: 25,406,245	C48F	probably damaging	Het
Olfr137	A	T	17: 38,305,331	N43K	possibly damaging	Het
Olfr459	A	T	6: 41,771,744	L185H	probably damaging	Het
Olfr592	T	C	7: 103,187,380	S260P	probably damaging	Het
Olfr676	T	C	7: 105,035,210	I4T	probably benign	Het
Osbpl2	T	C	2: 180,153,321	M332T	probably benign	Het
Ostm1	T	A	10: 42,698,217	V302D	probably damaging	Het
Otof	T	C	5: 30,385,188	D672G	probably benign	Het
Plekha6	A	T	1: 133,274,024	K392*	probably null	Het
Pnpla1	A	T	17: 28,858,976	D37V	probably damaging	Het
Rasgrp1	A	G	2: 117,298,545	S198P	probably damaging	Het
Reln	A	T	5: 21,971,934	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,335,900	A140E	probably benign	Het
Siglec1	A	G	2: 131,086,095	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,919,793	S41P	unknown	Het
Slc15a5	A	G	6: 138,073,057	M120T	probably benign	Het
Slc25a20	T	G	9: 108,681,973	D179E	possibly damaging	Het
Sltm	T	A	9: 70,586,070	V783E	probably damaging	Het
Smc1b	C	A	15: 85,069,720	R1116L	probably damaging	Het
Smim23	A	G	11: 32,824,471	V16A	probably benign	Het
Spata20	A	G	11: 94,483,400	V348A	probably benign	Het
Spen	T	C	4: 141,473,741	D2525G	probably damaging	Het
St14	A	C	9: 31,108,275	N83K	probably benign	Het
Stab1	T	C	14: 31,157,384	N713S	probably null	Het
Syne1	A	T	10: 5,218,580	L5267H	probably benign	Het
Tenm4	T	C	7: 96,694,803	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,142,926	H325Y	possibly damaging	Het
Trav23	A	G	14: 53,977,563	R78G	probably benign	Het
Ttc39c	A	T	18: 12,643,799		probably benign	Het
Unc79	A	G	12: 103,104,630	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,274,947	H53L	probably damaging	Het
Vps13b	A	T	15: 35,378,900	L53F	probably damaging	Het
Zfp532	C	T	18: 65,638,913	T834M	possibly damaging	Het

Other mutations in 1300017J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:1300017J02Rik	APN	9	103254776	missense	possibly damaging	0.48
IGL02370:1300017J02Rik	APN	9	103263074	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACCCATCTCACCAGCTATAAG -3'
(R):5'- CCAGTGAGGGTCTTAACTCATC -3'

Sequencing Primer
(F):5'- TTAGTAGATACTAAGCTCAGAGTCAC -3'
(R):5'- CAGTGAGGGTCTTAACTCATCTCAAC -3'

Posted On

2019-09-13