Incidental Mutation 'IGL03267:Car6'
ID 415128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car6
Ensembl Gene ENSMUSG00000028972
Gene Name carbonic anhydrase 6
Synonyms DOC1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03267
Quality Score
Status
Chromosome 4
Chromosomal Location 150187015-150201332 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 150196046 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030817] [ENSMUST00000105683]
AlphaFold P18761
Predicted Effect probably benign
Transcript: ENSMUST00000030817
SMART Domains Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Carb_anhydrase 21 277 4.31e-106 SMART
low complexity region 295 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105683
SMART Domains Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972

DomainStartEndE-ValueType
Carb_anhydrase 1 221 3.55e-75 SMART
low complexity region 239 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134648
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase in the number of lymphoid follicles in Peyer's patches. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 C T 5: 121,637,349 R430Q probably benign Het
Arfgef3 T A 10: 18,591,882 I1857F probably damaging Het
Baat T A 4: 49,490,050 M345L probably benign Het
Babam1 T G 8: 71,403,064 probably null Het
Bbs7 A G 3: 36,573,505 F711S probably damaging Het
Btrc A G 19: 45,518,823 E458G probably damaging Het
Celsr3 T C 9: 108,836,525 probably benign Het
Csn2 A G 5: 87,698,071 V3A possibly damaging Het
Ddc T C 11: 11,876,303 Y86C probably damaging Het
Dennd1b A T 1: 139,062,861 R188* probably null Het
Dnah1 C A 14: 31,286,588 A2046S probably benign Het
Eif2b4 A T 5: 31,192,659 S20T possibly damaging Het
Etl4 T A 2: 20,785,182 C916* probably null Het
Fam78a T C 2: 32,069,667 I144V probably benign Het
Fcho1 A G 8: 71,712,299 probably benign Het
Gm4981 T C 10: 58,235,787 T202A probably damaging Het
Gm597 G A 1: 28,777,121 T610I probably damaging Het
Il9r T A 11: 32,191,778 H320L possibly damaging Het
Kntc1 C T 5: 123,758,480 T135M probably damaging Het
Lca5l T A 16: 96,159,783 Q498L probably benign Het
Map4k3 T C 17: 80,664,028 H70R probably damaging Het
Mrps26 A G 2: 130,564,936 probably null Het
Olfr1057 A T 2: 86,374,634 Y259* probably null Het
Olfr352 G T 2: 36,870,501 A312S probably benign Het
Olfr729 A G 14: 50,148,847 V9A probably damaging Het
Pik3cg C A 12: 32,205,308 G227C possibly damaging Het
Ptprn2 C T 12: 116,876,344 Q496* probably null Het
Rif1 T G 2: 52,076,988 N96K possibly damaging Het
Rreb1 A C 13: 37,932,193 D1176A probably benign Het
Slc22a30 A G 19: 8,337,958 I436T probably benign Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Stab1 A G 14: 31,142,729 C1950R probably damaging Het
Tns2 T C 15: 102,105,378 probably null Het
Ttf2 G A 3: 100,944,804 R1009* probably null Het
Wfdc16 A G 2: 164,638,542 V11A possibly damaging Het
Zfp367 A G 13: 64,144,283 probably benign Het
Zfp420 G A 7: 29,875,483 R376H probably damaging Het
Other mutations in Car6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Car6 APN 4 150198153 missense probably benign 0.38
IGL02483:Car6 APN 4 150196129 missense probably damaging 1.00
R0226:Car6 UTSW 4 150187508 missense probably damaging 0.97
R0987:Car6 UTSW 4 150197343 missense probably damaging 1.00
R1569:Car6 UTSW 4 150201042 missense probably damaging 1.00
R1627:Car6 UTSW 4 150192578 missense probably damaging 0.96
R2080:Car6 UTSW 4 150198141 missense probably benign 0.01
R4812:Car6 UTSW 4 150197415 missense probably damaging 0.96
R5902:Car6 UTSW 4 150187499 missense possibly damaging 0.82
R5929:Car6 UTSW 4 150196135 missense probably damaging 1.00
R6924:Car6 UTSW 4 150189256 splice site probably null
R9088:Car6 UTSW 4 150197349 missense probably damaging 1.00
Posted On 2016-08-02