Incidental Mutation 'R0849:Inhca'
ID 77081
Institutional Source Beutler Lab
Gene Symbol Inhca
Ensembl Gene ENSMUSG00000033688
Gene Name inhibitor of carbonic anhydrase
Synonyms mICA, 1300017J02Rik
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 103127722-103165496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 103140256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 488 (Y488D)
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 possibly damaging
Transcript: ENSMUST00000035163
AA Change: Y488D

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: Y488D

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 benign
Transcript: ENSMUST00000123530
AA Change: Y410D

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: Y410D

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 unknown
Transcript: ENSMUST00000154357
AA Change: Y51D
SMART Domains Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: Y51D

DomainStartEndE-ValueType
TR_FER 1 242 5.88e-81 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C 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
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
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 PCR Primer
(F):5'- TGGAGTTCACTTTCTGTCAAGCCC -3'
(R):5'- CTCCCATTGTCACAGATCCTGAACC -3'

Sequencing Primer
(F):5'- TTCTGTCAAGCCCATGACC -3'
(R):5'- TATGTAGTTTCAGCACACCAGC -3'
Posted On 2013-10-16