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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03267
Quality Score
Status
Chromosome 4
Chromosomal Location 150271472-150285592 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 150280503 bp (GRCm39)
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: 121,775,412 (GRCm39) R430Q probably benign Het
Arfgef3 T A 10: 18,467,630 (GRCm39) I1857F probably damaging Het
Baat T A 4: 49,490,050 (GRCm39) M345L probably benign Het
Babam1 T G 8: 71,855,708 (GRCm39) probably null Het
Bbs7 A G 3: 36,627,654 (GRCm39) F711S probably damaging Het
Btrc A G 19: 45,507,262 (GRCm39) E458G probably damaging Het
Celsr3 T C 9: 108,713,724 (GRCm39) probably benign Het
Csn2 A G 5: 87,845,930 (GRCm39) V3A possibly damaging Het
Ddc T C 11: 11,826,303 (GRCm39) Y86C probably damaging Het
Dennd1b A T 1: 138,990,599 (GRCm39) R188* probably null Het
Dnah1 C A 14: 31,008,545 (GRCm39) A2046S probably benign Het
Duxf4 T C 10: 58,071,609 (GRCm39) T202A probably damaging Het
Eif2b4 A T 5: 31,350,003 (GRCm39) S20T possibly damaging Het
Etl4 T A 2: 20,789,993 (GRCm39) C916* probably null Het
Fam78a T C 2: 31,959,679 (GRCm39) I144V probably benign Het
Fcho1 A G 8: 72,164,943 (GRCm39) probably benign Het
Il9r T A 11: 32,141,778 (GRCm39) H320L possibly damaging Het
Kntc1 C T 5: 123,896,543 (GRCm39) T135M probably damaging Het
Lca5l T A 16: 95,960,983 (GRCm39) Q498L probably benign Het
Map4k3 T C 17: 80,971,457 (GRCm39) H70R probably damaging Het
Mrps26 A G 2: 130,406,856 (GRCm39) probably null Het
Or1j20 G T 2: 36,760,513 (GRCm39) A312S probably benign Het
Or4k5 A G 14: 50,386,304 (GRCm39) V9A probably damaging Het
Or8j3b A T 2: 86,204,978 (GRCm39) Y259* probably null Het
Pik3cg C A 12: 32,255,307 (GRCm39) G227C possibly damaging Het
Ptprn2 C T 12: 116,839,964 (GRCm39) Q496* probably null Het
Rif1 T G 2: 51,967,000 (GRCm39) N96K possibly damaging Het
Rreb1 A C 13: 38,116,169 (GRCm39) D1176A probably benign Het
Slc22a30 A G 19: 8,315,322 (GRCm39) I436T probably benign Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Spata31e5 G A 1: 28,816,202 (GRCm39) T610I probably damaging Het
Stab1 A G 14: 30,864,686 (GRCm39) C1950R probably damaging Het
Tns2 T C 15: 102,013,813 (GRCm39) probably null Het
Ttf2 G A 3: 100,852,120 (GRCm39) R1009* probably null Het
Wfdc16 A G 2: 164,480,462 (GRCm39) V11A possibly damaging Het
Zfp367 A G 13: 64,292,097 (GRCm39) probably benign Het
Zfp420 G A 7: 29,574,908 (GRCm39) R376H probably damaging Het
Other mutations in Car6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Car6 APN 4 150,282,610 (GRCm39) missense probably benign 0.38
IGL02483:Car6 APN 4 150,280,586 (GRCm39) missense probably damaging 1.00
R0226:Car6 UTSW 4 150,271,965 (GRCm39) missense probably damaging 0.97
R0987:Car6 UTSW 4 150,281,800 (GRCm39) missense probably damaging 1.00
R1569:Car6 UTSW 4 150,285,499 (GRCm39) missense probably damaging 1.00
R1627:Car6 UTSW 4 150,277,035 (GRCm39) missense probably damaging 0.96
R2080:Car6 UTSW 4 150,282,598 (GRCm39) missense probably benign 0.01
R4812:Car6 UTSW 4 150,281,872 (GRCm39) missense probably damaging 0.96
R5902:Car6 UTSW 4 150,271,956 (GRCm39) missense possibly damaging 0.82
R5929:Car6 UTSW 4 150,280,592 (GRCm39) missense probably damaging 1.00
R6924:Car6 UTSW 4 150,273,713 (GRCm39) splice site probably null
R9088:Car6 UTSW 4 150,281,806 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02