Mutagenetix > Incidental Mutation

Incidental Mutation 'R8869:Inhca'

676148

Institutional Source

Beutler Lab

Gene Symbol

Inhca

Ensembl Gene

ENSMUSG00000033688

Gene Name

inhibitor of carbonic anhydrase

Synonyms

mICA, 1300017J02Rik

Accession Numbers

Essential gene?

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

Stock #

R8869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103127722-103165496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103149831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 242 (Y242C)

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 damaging
Transcript: ENSMUST00000035163
AA Change: Y242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: Y242C

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 damaging
Transcript: ENSMUST00000123530
AA Change: Y242C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: Y242C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	A	19: 55,266,523 (GRCm39)	R114Q	possibly damaging	Het
Atp1a4	C	T	1: 172,054,690 (GRCm39)	V980I	probably benign	Het
Bltp1	T	A	3: 37,013,007 (GRCm39)	C1895S	probably damaging	Het
Brd1	A	T	15: 88,614,729 (GRCm39)	D55E	probably benign	Het
Cachd1	A	G	4: 100,809,280 (GRCm39)	D255G	probably benign	Het
Ccdc168	A	T	1: 44,097,425 (GRCm39)	D1224E	possibly damaging	Het
Ces2f	C	A	8: 105,676,704 (GRCm39)	P133T	probably damaging	Het
Cfap251	A	T	5: 123,460,505 (GRCm39)	M1156L	possibly damaging	Het
Clock	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	5: 76,374,889 (GRCm39)		probably benign	Het
Cyp4f37	A	T	17: 32,844,096 (GRCm39)	I67F	probably benign	Het
Dbf4	T	C	5: 8,448,656 (GRCm39)	I84V		Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhdh	G	T	7: 45,137,536 (GRCm39)	N50K	probably benign	Het
Dnah7c	A	T	1: 46,671,504 (GRCm39)	E1631V	probably damaging	Het
Dusp23	A	G	1: 172,460,293 (GRCm39)	C53R	possibly damaging	Het
Efcab6	G	A	15: 83,928,432 (GRCm39)	S54L	probably damaging	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Gfap	G	C	11: 102,787,810 (GRCm39)	A45G	probably benign	Het
Grm8	C	T	6: 27,363,752 (GRCm39)	V588M	probably benign	Het
H1f8	A	G	6: 115,926,911 (GRCm39)	T263A	probably benign	Het
Hoatz	T	A	9: 50,992,832 (GRCm39)		probably null	Het
Malrd1	T	A	2: 15,570,368 (GRCm39)		probably null	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh15	T	C	16: 48,997,366 (GRCm39)	V1728A	probably benign	Het
Nxph2	T	A	2: 23,290,071 (GRCm39)	V141D	probably damaging	Het
Or11l3	T	C	11: 58,515,994 (GRCm39)	E106G	unknown	Het
Or2t26	A	T	11: 49,039,483 (GRCm39)	Y133F	probably damaging	Het
Or4f6	A	T	2: 111,838,596 (GRCm39)	S312T	possibly damaging	Het
Or5b121	A	T	19: 13,507,892 (GRCm39)	N329I	probably damaging	Het
Or5d36	T	A	2: 87,901,753 (GRCm39)		probably null	Het
Or5h25	A	G	16: 58,930,121 (GRCm39)	V284A		Het
Or5w10	A	T	2: 87,375,753 (GRCm39)	M45K	probably damaging	Het
Or8c10	A	G	9: 38,279,142 (GRCm39)	N90S	possibly damaging	Het
Otof	T	A	5: 30,578,325 (GRCm39)	I108F	probably benign	Het
Pcdha4	A	T	18: 37,086,011 (GRCm39)	R65*	probably null	Het
Pde11a	T	C	2: 76,041,434 (GRCm39)	H412R	probably benign	Het
Peli3	C	T	19: 4,982,541 (GRCm39)	G375S	probably damaging	Het
Ppp6r3	A	G	19: 3,561,927 (GRCm39)		probably null	Het
Prcp	T	C	7: 92,559,518 (GRCm39)	V194A	possibly damaging	Het
Prkce	T	C	17: 86,476,370 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,887 (GRCm39)	S61T	probably benign	Het
Ptprq	C	T	10: 107,535,469 (GRCm39)	R432H	probably damaging	Het
Rnase2a	T	A	14: 51,493,101 (GRCm39)	N88I	possibly damaging	Het
Rspry1	G	T	8: 95,359,780 (GRCm39)	L230F	probably damaging	Het
Slco1a8	A	G	6: 141,927,810 (GRCm39)	V548A	probably damaging	Het
Smpd2	A	G	10: 41,365,301 (GRCm39)	L65P	probably benign	Het
Sorl1	A	G	9: 41,933,722 (GRCm39)	Y1083H	probably benign	Het
Tjp1	A	G	7: 64,986,386 (GRCm39)	S241P	probably damaging	Het
Tmed6	A	C	8: 107,792,164 (GRCm39)	L27R	probably damaging	Het
Tmem52	G	A	4: 155,553,788 (GRCm39)	C32Y	probably damaging	Het
Tmprss15	C	A	16: 78,750,834 (GRCm39)	G1022*	probably null	Het
Ttn	T	C	2: 76,730,345 (GRCm39)	S5085G	unknown	Het
Vmn2r37	C	T	7: 9,209,854 (GRCm39)	V553M	possibly damaging	Het
Wdr70	A	T	15: 8,123,210 (GRCm39)	M42K	probably benign	Het
Zfp735	T	A	11: 73,602,510 (GRCm39)	C485S	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
R7400:Inhca	UTSW	9	103,127,861 (GRCm39)	missense	probably benign	0.25
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
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'- TGGTCAGATGGAGGAAACCCAC -3'
(R):5'- TCTGTCATTCCCCTGGTGAG -3'

Sequencing Primer
(F):5'- CACACTGAAGCCAGGAGC -3'
(R):5'- AGCCCCGCTGCTCTCTC -3'

Posted On

2021-07-15