Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:Inhca'

574109

Institutional Source

Beutler Lab

Gene Symbol

Inhca

Ensembl Gene

ENSMUSG00000033688

Gene Name

inhibitor of carbonic anhydrase

Synonyms

mICA, 1300017J02Rik

MMRRC Submission

045482-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103127722-103165496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103127861 bp (GRCm39)

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: 68,496,547 (GRCm39)	S118P	unknown	Het
Ahnak	T	A	19: 8,991,977 (GRCm39)	D4420E	probably damaging	Het
Atp5mc2	C	T	15: 102,573,547 (GRCm39)	A90T	possibly damaging	Het
Batf2	A	G	19: 6,221,538 (GRCm39)	Y116C	probably damaging	Het
Cd48	G	A	1: 171,523,493 (GRCm39)	R112H	probably benign	Het
Cdh8	A	T	8: 100,006,192 (GRCm39)	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,458,335 (GRCm39)	S793A	probably benign	Het
Cmip	A	G	8: 117,984,144 (GRCm39)		probably null	Het
Cyp1a2	T	C	9: 57,589,223 (GRCm39)	N197S	probably benign	Het
Diaph1	T	C	18: 37,987,555 (GRCm39)	D1067G	probably damaging	Het
Disp2	T	C	2: 118,622,367 (GRCm39)	L1033P	probably damaging	Het
Dock6	G	T	9: 21,713,103 (GRCm39)	A1981D	possibly damaging	Het
Eci3	T	C	13: 35,143,960 (GRCm39)	D55G	probably benign	Het
Eea1	T	A	10: 95,831,432 (GRCm39)	D174E	probably benign	Het
Ehd2	T	C	7: 15,684,581 (GRCm39)	E406G	possibly damaging	Het
Erich3	A	G	3: 154,468,214 (GRCm39)	K889E		Het
Fat4	C	A	3: 38,942,073 (GRCm39)	T322K	probably damaging	Het
Fitm1	A	T	14: 55,814,226 (GRCm39)	I241F	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Gpsm2	T	A	3: 108,587,004 (GRCm39)	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,092,847 (GRCm39)	L75M	possibly damaging	Het
Gvin2	T	A	7: 105,551,247 (GRCm39)	I602F	probably benign	Het
Hmcn1	T	C	1: 150,550,181 (GRCm39)	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,194,033 (GRCm39)	I118T	possibly damaging	Het
Hsp90ab1	A	G	17: 45,880,210 (GRCm39)	V473A	probably benign	Het
Ica1l	T	C	1: 60,081,801 (GRCm39)		probably null	Het
Ighv1-72	A	G	12: 115,721,837 (GRCm39)	S40P	probably damaging	Het
Kif28	A	C	1: 179,527,839 (GRCm39)	W771G	probably damaging	Het
Klf13	G	C	7: 63,587,996 (GRCm39)	A100G	probably benign	Het
Klhl5	A	G	5: 65,305,933 (GRCm39)	E300G	possibly damaging	Het
Krt40	A	G	11: 99,433,969 (GRCm39)	S6P	probably benign	Het
Map3k13	C	T	16: 21,741,072 (GRCm39)	R800W	probably damaging	Het
Mef2d	T	C	3: 88,075,038 (GRCm39)	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,301 (GRCm39)	M87K	probably damaging	Het
Mrgprd	T	A	7: 144,875,643 (GRCm39)	H171Q	probably benign	Het
Muc1	C	T	3: 89,137,953 (GRCm39)	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,750,939 (GRCm39)	N570D		Het
Nfs1	T	A	2: 155,968,243 (GRCm39)	I408F	probably damaging	Het
Npdc1	G	T	2: 25,296,257 (GRCm39)	C48F	probably damaging	Het
Or2j3	A	T	17: 38,616,222 (GRCm39)	N43K	possibly damaging	Het
Or52e7	T	C	7: 104,684,417 (GRCm39)	I4T	probably benign	Het
Or52j3	T	C	7: 102,836,587 (GRCm39)	S260P	probably damaging	Het
Or9a2	A	T	6: 41,748,678 (GRCm39)	L185H	probably damaging	Het
Osbpl2	T	C	2: 179,795,114 (GRCm39)	M332T	probably benign	Het
Ostm1	T	A	10: 42,574,213 (GRCm39)	V302D	probably damaging	Het
Otof	T	C	5: 30,542,532 (GRCm39)	D672G	probably benign	Het
Plekha6	A	T	1: 133,201,762 (GRCm39)	K392*	probably null	Het
Pnpla1	A	T	17: 29,077,950 (GRCm39)	D37V	probably damaging	Het
Rasgrp1	A	G	2: 117,129,026 (GRCm39)	S198P	probably damaging	Het
Reln	A	T	5: 22,176,932 (GRCm39)	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,136,759 (GRCm39)	A140E	probably benign	Het
Siglec1	A	G	2: 130,928,015 (GRCm39)	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,747,360 (GRCm39)	S41P	unknown	Het
Slc15a5	A	G	6: 138,050,055 (GRCm39)	M120T	probably benign	Het
Slc25a20	T	G	9: 108,559,172 (GRCm39)	D179E	possibly damaging	Het
Sltm	T	A	9: 70,493,352 (GRCm39)	V783E	probably damaging	Het
Smc1b	C	A	15: 84,953,921 (GRCm39)	R1116L	probably damaging	Het
Smim23	A	G	11: 32,774,471 (GRCm39)	V16A	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spen	T	C	4: 141,201,052 (GRCm39)	D2525G	probably damaging	Het
St14	A	C	9: 31,019,571 (GRCm39)	N83K	probably benign	Het
Stab1	T	C	14: 30,879,341 (GRCm39)	N713S	probably null	Het
Syne1	A	T	10: 5,168,580 (GRCm39)	L5267H	probably benign	Het
Tenm4	T	C	7: 96,344,010 (GRCm39)	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,213,150 (GRCm39)	H325Y	possibly damaging	Het
Trav23	A	G	14: 54,215,020 (GRCm39)	R78G	probably benign	Het
Ttc39c	A	T	18: 12,776,856 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,070,889 (GRCm39)	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,008,874 (GRCm39)	H53L	probably damaging	Het
Vps13b	A	T	15: 35,379,046 (GRCm39)	L53F	probably damaging	Het
Zfp532	C	T	18: 65,771,984 (GRCm39)	T834M	possibly damaging	Het

Other mutations in Inhca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Inhca	APN	9	103,131,975 (GRCm39)	missense	possibly damaging	0.48
IGL02370:Inhca	APN	9	103,140,273 (GRCm39)	missense	probably benign	0.27
IGL02899:Inhca	APN	9	103,154,773 (GRCm39)	missense	probably damaging	1.00
R0206:Inhca	UTSW	9	103,159,861 (GRCm39)	missense	probably damaging	1.00
R0206:Inhca	UTSW	9	103,159,861 (GRCm39)	missense	probably damaging	1.00
R0831:Inhca	UTSW	9	103,146,978 (GRCm39)	missense	possibly damaging	0.50
R0849:Inhca	UTSW	9	103,140,256 (GRCm39)	missense	possibly damaging	0.94
R1225:Inhca	UTSW	9	103,132,038 (GRCm39)	splice site	probably benign
R2061:Inhca	UTSW	9	103,145,513 (GRCm39)	missense	probably benign	0.01
R2176:Inhca	UTSW	9	103,136,566 (GRCm39)	splice site	probably benign
R4915:Inhca	UTSW	9	103,129,054 (GRCm39)	nonsense	probably null
R4917:Inhca	UTSW	9	103,129,054 (GRCm39)	nonsense	probably null
R5020:Inhca	UTSW	9	103,159,701 (GRCm39)	missense	probably benign	0.02
R5033:Inhca	UTSW	9	103,156,613 (GRCm39)	missense	probably benign	0.36
R5087:Inhca	UTSW	9	103,143,420 (GRCm39)	missense	probably damaging	0.98
R5174:Inhca	UTSW	9	103,159,755 (GRCm39)	splice site	probably null
R6283:Inhca	UTSW	9	103,159,834 (GRCm39)	nonsense	probably null
R7092:Inhca	UTSW	9	103,158,242 (GRCm39)	missense	possibly damaging	0.55
R7175:Inhca	UTSW	9	103,128,988 (GRCm39)	critical splice donor site	probably null
R7347:Inhca	UTSW	9	103,159,845 (GRCm39)	missense	possibly damaging	0.67
R7380:Inhca	UTSW	9	103,156,680 (GRCm39)	nonsense	probably null
R7460:Inhca	UTSW	9	103,131,847 (GRCm39)	missense	probably benign	0.00
R7993:Inhca	UTSW	9	103,140,332 (GRCm39)	missense	probably benign
R8056:Inhca	UTSW	9	103,143,423 (GRCm39)	missense	probably damaging	1.00
R8686:Inhca	UTSW	9	103,136,627 (GRCm39)	missense	probably benign	0.00
R8869:Inhca	UTSW	9	103,149,831 (GRCm39)	missense	probably damaging	1.00
R9371:Inhca	UTSW	9	103,158,252 (GRCm39)	missense	probably benign	0.01
R9448:Inhca	UTSW	9	103,149,781 (GRCm39)	missense	probably benign
R9719:Inhca	UTSW	9	103,132,014 (GRCm39)	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