Incidental Mutation 'R0206:Inhca'
ID 66384
Institutional Source Beutler Lab
Gene Symbol Inhca
Ensembl Gene ENSMUSG00000033688
Gene Name inhibitor of carbonic anhydrase
Synonyms mICA, 1300017J02Rik
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R0206 (G1)
Quality Score 85
Status Not validated
Chromosome 9
Chromosomal Location 103127722-103165496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103159861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 5 (C5R)
Ref Sequence ENSEMBL: ENSMUSP00000116504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530] [ENSMUST00000142540]
AlphaFold Q9DBD0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035163
AA Change: C17R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: C17R

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 unknown
Transcript: ENSMUST00000123530
AA Change: C17R
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: C17R

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 probably damaging
Transcript: ENSMUST00000142540
AA Change: C5R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150524
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 95.8%
  • 3x: 87.0%
  • 10x: 38.5%
  • 20x: 5.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Gm20441 A G 10: 75,608,719 (GRCm39) M1T probably null Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S probably damaging 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
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
Predicted Primers
Posted On 2013-08-19