Incidental Mutation 'IGL01371:Inhca'
ID 76162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inhca
Ensembl Gene ENSMUSG00000033688
Gene Name inhibitor of carbonic anhydrase
Synonyms mICA, 1300017J02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # IGL01371
Quality Score
Status
Chromosome 9
Chromosomal Location 103127722-103165496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103131975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 504 (E504G)
Ref Sequence ENSEMBL: ENSMUSP00000115867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530]
AlphaFold Q9DBD0
Predicted Effect probably benign
Transcript: ENSMUST00000035163
AA Change: E582G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: E582G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000123530
AA Change: E504G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: E504G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000151073
Predicted Effect unknown
Transcript: ENSMUST00000154357
AA Change: E149G
SMART Domains Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: E149G

DomainStartEndE-ValueType
TR_FER 1 242 5.88e-81 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,602,340 (GRCm39) R691Q probably benign Het
Ambra1 G T 2: 91,655,631 (GRCm39) G700W probably damaging Het
Atp6v1c1 A G 15: 38,683,204 (GRCm39) I198V probably benign Het
Bptf T C 11: 106,946,733 (GRCm39) N2353S probably benign Het
Cd84 A T 1: 171,713,937 (GRCm39) T312S probably benign Het
Chl1 G T 6: 103,692,325 (GRCm39) C1064F probably damaging Het
Clca4a T C 3: 144,666,433 (GRCm39) D473G probably damaging Het
Dsp A G 13: 38,377,593 (GRCm39) R1793G probably benign Het
Dync1h1 A G 12: 110,605,285 (GRCm39) N2374S probably benign Het
Ecpas A G 4: 58,809,718 (GRCm39) L1583P probably damaging Het
Gm43191 A T 3: 116,439,112 (GRCm39) I130N probably damaging Het
Gm5134 T G 10: 75,840,581 (GRCm39) L475R probably damaging Het
Grm1 A G 10: 10,595,783 (GRCm39) V615A probably benign Het
Loxl1 T A 9: 58,201,705 (GRCm39) Q462L possibly damaging Het
Nwd1 T C 8: 73,401,743 (GRCm39) W755R probably damaging Het
Or10j27 A G 1: 172,958,098 (GRCm39) S229P possibly damaging Het
Or5b106 G A 19: 13,123,192 (GRCm39) T277I possibly damaging Het
Or5t17 A T 2: 86,833,267 (GRCm39) K318M probably benign Het
Otud4 T C 8: 80,400,390 (GRCm39) F1034L probably damaging Het
Pakap C A 4: 57,856,325 (GRCm39) D551E probably benign Het
Panx3 T G 9: 37,572,771 (GRCm39) T260P probably benign Het
Ppfia4 A T 1: 134,255,824 (GRCm39) S194T probably benign Het
Rnf135 T A 11: 80,080,081 (GRCm39) I124N probably benign Het
Rpf1 T C 3: 146,213,302 (GRCm39) N283S probably damaging Het
Smg5 A G 3: 88,266,951 (GRCm39) probably benign Het
Stard9 A G 2: 120,531,849 (GRCm39) E2702G probably benign Het
Tbk1 A T 10: 121,395,776 (GRCm39) M439K probably benign Het
Tmem235 T C 11: 117,753,132 (GRCm39) L85P possibly damaging Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Ttn T C 2: 76,620,608 (GRCm39) probably benign Het
Vmn1r83 A G 7: 12,055,160 (GRCm39) F299S probably benign Het
Other mutations in Inhca
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07