Incidental Mutation 'R7460:Inhca'
ID 578396
Institutional Source Beutler Lab
Gene Symbol Inhca
Ensembl Gene ENSMUSG00000033688
Gene Name inhibitor of carbonic anhydrase
Synonyms mICA, 1300017J02Rik
MMRRC Submission 045534-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R7460 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 103127722-103165496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103131847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 625 (N625D)
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 benign
Transcript: ENSMUST00000035163
AA Change: N625D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: N625D

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: N547D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: N547D

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
SMART Domains Protein: ENSMUSP00000123519
Gene: ENSMUSG00000033688
AA Change: N192D

DomainStartEndE-ValueType
TR_FER 1 242 5.88e-81 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T A 1: 60,473,466 (GRCm39) V61D probably damaging Het
Agrn C A 4: 156,258,881 (GRCm39) V915L probably damaging Het
Arhgap24 T C 5: 103,040,212 (GRCm39) V476A probably benign Het
Arhgef15 A G 11: 68,837,861 (GRCm39) L720P probably damaging Het
Atad2b C A 12: 5,002,660 (GRCm39) R343S probably benign Het
Atxn3 T A 12: 101,892,776 (GRCm39) T313S probably benign Het
BC051665 T C 13: 60,932,457 (GRCm39) E76G probably benign Het
Birc2 A T 9: 7,818,762 (GRCm39) F610I probably damaging Het
Cdh16 A T 8: 105,348,923 (GRCm39) V58D possibly damaging Het
Cenpf T C 1: 189,386,247 (GRCm39) D2011G probably damaging Het
Ddb1 T C 19: 10,585,275 (GRCm39) probably null Het
Ddx1 A G 12: 13,281,440 (GRCm39) probably null Het
Disp2 A G 2: 118,620,261 (GRCm39) H331R probably damaging Het
Dmxl1 A G 18: 50,011,679 (GRCm39) T1279A probably benign Het
Dync1i2 T C 2: 71,081,230 (GRCm39) I473T probably damaging Het
Fam114a1 T G 5: 65,196,050 (GRCm39) V520G possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 T A 11: 55,169,789 (GRCm39) D2990V probably damaging Het
Fbh1 C T 2: 11,761,496 (GRCm39) G597D probably benign Het
Fdxr A C 11: 115,167,680 (GRCm39) S12A probably benign Het
Fgf14 T A 14: 124,914,105 (GRCm39) R9W possibly damaging Het
Gnat3 A T 5: 18,204,656 (GRCm39) D103V Het
Hepacam2 G A 6: 3,487,199 (GRCm39) P53S probably benign Het
Jmjd1c A G 10: 67,052,815 (GRCm39) T21A probably benign Het
Lama1 T C 17: 68,074,013 (GRCm39) C930R Het
Lrp1b T C 2: 40,488,478 (GRCm39) T4536A Het
Lrrc27 T A 7: 138,803,574 (GRCm39) V166E probably damaging Het
Mapk10 C T 5: 103,186,443 (GRCm39) V90I probably benign Het
Mfsd14b C T 13: 65,219,837 (GRCm39) G339D probably damaging Het
Mnt T A 11: 74,734,109 (GRCm39) M580K unknown Het
Mrc1 T C 2: 14,253,680 (GRCm39) S234P probably damaging Het
Mrps5 G A 2: 127,433,811 (GRCm39) V75I not run Het
Mrtfb G T 16: 13,218,840 (GRCm39) Q495H probably benign Het
Myo10 A G 15: 25,807,913 (GRCm39) D1845G probably damaging Het
Or3a1c A T 11: 74,046,672 (GRCm39) I231F probably damaging Het
Or51a25 A T 7: 102,373,028 (GRCm39) M223K probably benign Het
Or7a40 C A 16: 16,491,030 (GRCm39) A272S possibly damaging Het
Or8b3 T C 9: 38,314,649 (GRCm39) S160P possibly damaging Het
Pdhx G A 2: 102,877,124 (GRCm39) T95M probably damaging Het
Pigb C T 9: 72,945,957 (GRCm39) V72I probably damaging Het
Prr7 C A 13: 55,620,166 (GRCm39) P110Q unknown Het
Psg22 A G 7: 18,458,329 (GRCm39) D340G probably benign Het
Ptprn2 T C 12: 117,212,301 (GRCm39) S908P probably benign Het
Ros1 T C 10: 51,994,299 (GRCm39) Y1348C probably damaging Het
Rspry1 T C 8: 95,376,963 (GRCm39) I506T probably benign Het
Ryr2 T A 13: 11,720,596 (GRCm39) Y2684F probably benign Het
Sdr16c6 A G 4: 4,076,575 (GRCm39) probably null Het
Senp7 A G 16: 55,993,545 (GRCm39) T743A possibly damaging Het
Slc6a20b T C 9: 123,434,014 (GRCm39) I275V probably benign Het
Slc6a7 A G 18: 61,134,674 (GRCm39) I467T probably benign Het
Tacc2 A G 7: 130,226,363 (GRCm39) D1016G probably benign Het
Thsd7a A G 6: 12,554,933 (GRCm39) V317A Het
Tle3 A G 9: 61,320,366 (GRCm39) H598R probably damaging Het
Tmem102 A G 11: 69,694,949 (GRCm39) L341P probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Trappc14 G A 5: 138,260,991 (GRCm39) T218M probably benign Het
Trhde T A 10: 114,249,168 (GRCm39) D866V probably damaging Het
Ttn A G 2: 76,581,617 (GRCm39) I23092T probably damaging Het
U2surp C A 9: 95,344,877 (GRCm39) V944L unknown Het
Urgcp T C 11: 5,666,622 (GRCm39) H615R possibly damaging Het
Vps45 T A 3: 95,955,699 (GRCm39) Y97F probably benign Het
Zc3h12c T C 9: 52,055,402 (GRCm39) T136A probably benign Het
Zfp948 A T 17: 21,808,677 (GRCm39) H623L 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
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
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'- GTTTCCTCAAGGCTGCAAATC -3'
(R):5'- TCCCTAGGAAAGAACCCTGAG -3'

Sequencing Primer
(F):5'- GGCTGCAAATCTTACACTCCTAGAG -3'
(R):5'- CTAGGAAAGAACCCTGAGCCTTG -3'
Posted On 2019-10-07