Incidental Mutation 'R5087:Inhca'
ID 387520
Institutional Source Beutler Lab
Gene Symbol Inhca
Ensembl Gene ENSMUSG00000033688
Gene Name inhibitor of carbonic anhydrase
Synonyms mICA, 1300017J02Rik
MMRRC Submission 042676-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R5087 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 103127722-103165496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103143420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 361 (V361M)
Ref Sequence ENSEMBL: ENSMUSP00000115867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530]
AlphaFold Q9DBD0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035163
AA Change: V439M

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: V439M

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 probably damaging
Transcript: ENSMUST00000123530
AA Change: V361M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: V361M

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: ENSMUST00000150524
Predicted Effect unknown
Transcript: ENSMUST00000154357
AA Change: V2M
SMART Domains Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: V2M

DomainStartEndE-ValueType
TR_FER 1 242 5.88e-81 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A G 1: 9,631,851 (GRCm39) probably benign Het
Anln T C 9: 22,286,340 (GRCm39) T322A possibly damaging Het
Best3 A T 10: 116,844,907 (GRCm39) Y354F probably benign Het
Cd44 C T 2: 102,661,699 (GRCm39) V509I possibly damaging Het
Cdk5rap1 T C 2: 154,184,315 (GRCm39) N529S probably damaging Het
Cnst A G 1: 179,450,378 (GRCm39) D614G possibly damaging Het
Cpq T C 15: 33,213,008 (GRCm39) I9T probably benign Het
Cyp2j6 T C 4: 96,419,936 (GRCm39) H265R probably damaging Het
Dctn1 T A 6: 83,168,621 (GRCm39) M458K probably damaging Het
Disc1 A C 8: 125,858,899 (GRCm39) I454L probably benign Het
Dnaja4 A G 9: 54,607,023 (GRCm39) E4G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eipr1 C A 12: 28,878,855 (GRCm39) N136K probably benign Het
Fut11 A G 14: 20,746,229 (GRCm39) N357S probably damaging Het
Gbp2b C T 3: 142,304,015 (GRCm39) P37S probably damaging Het
Ghr T G 15: 3,349,622 (GRCm39) K519Q probably damaging Het
Gipr C A 7: 18,893,689 (GRCm39) C328F probably damaging Het
Gm27013 A T 6: 130,654,633 (GRCm39) N276K probably damaging Het
Got2 C A 8: 96,598,951 (GRCm39) K150N probably benign Het
Gucy2c A G 6: 136,744,033 (GRCm39) S189P possibly damaging Het
H2-T5 C A 17: 36,476,308 (GRCm39) G347* probably null Het
Hells T C 19: 38,932,189 (GRCm39) V153A probably benign Het
Ighd G A 12: 113,378,047 (GRCm39) probably benign Het
Itga4 A C 2: 79,145,973 (GRCm39) D725A possibly damaging Het
Itgbl1 T A 14: 124,204,151 (GRCm39) L414Q possibly damaging Het
Kat2b-ps A G 5: 93,539,585 (GRCm39) noncoding transcript Het
Lrrc1 A T 9: 77,364,740 (GRCm39) S192T probably benign Het
Mc2r A T 18: 68,541,274 (GRCm39) N6K probably benign Het
Moxd2 A C 6: 40,856,270 (GRCm39) L534W probably damaging Het
Myh4 A T 11: 67,146,235 (GRCm39) D1431V probably damaging Het
Naa15 T A 3: 51,364,706 (GRCm39) probably null Het
Naa16 G A 14: 79,614,855 (GRCm39) T215I possibly damaging Het
Ntng1 A T 3: 110,042,645 (GRCm39) Y60* probably null Het
Or1e29 T C 11: 73,668,084 (GRCm39) Y23C possibly damaging Het
Or2g25 A T 17: 37,970,612 (GRCm39) V204E probably damaging Het
Pccb T C 9: 100,867,296 (GRCm39) probably benign Het
Pcnx1 C A 12: 82,041,713 (GRCm39) P2115Q probably damaging Het
Pfkfb3 G A 2: 11,488,825 (GRCm39) T313I probably damaging Het
Pld1 A G 3: 28,178,731 (GRCm39) N875S probably damaging Het
Ptpn20 A T 14: 33,336,398 (GRCm39) D79V possibly damaging Het
Rabgap1l C A 1: 160,549,809 (GRCm39) V266L probably damaging Het
Reep6 A G 10: 80,171,009 (GRCm39) D295G probably damaging Het
Sass6 T C 3: 116,403,947 (GRCm39) L195P probably damaging Het
Slc25a27 A G 17: 43,977,821 (GRCm39) S25P probably damaging Het
Smok2b T A 17: 13,454,011 (GRCm39) M57K probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sspo T C 6: 48,465,405 (GRCm39) V71A possibly damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Stard9 T A 2: 120,527,500 (GRCm39) Y1252* probably null Het
Syde2 T A 3: 145,712,881 (GRCm39) D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tmc5 G A 7: 118,244,609 (GRCm39) A496T possibly damaging Het
Ttn A G 2: 76,566,704 (GRCm39) V28063A probably damaging Het
Usp25 A C 16: 76,874,007 (GRCm39) I528L probably benign Het
Vmn1r58 C T 7: 5,413,666 (GRCm39) S188N probably benign Het
Wfikkn2 A T 11: 94,129,173 (GRCm39) C323S probably damaging Het
Zfy1 A C Y: 732,964 (GRCm39) S290A unknown Het
Other mutations in Inhca
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAACAGTGAACCCTGGCATC -3'
(R):5'- GCAGAACCTTTGACTGGTGATAAC -3'

Sequencing Primer
(F):5'- ACTGGGCATCAAATCTGGGTCATC -3'
(R):5'- TGGTGATAACCAGCGACGGC -3'
Posted On 2016-06-06