Incidental Mutation 'IGL03189:Car11'
ID 412578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car11
Ensembl Gene ENSMUSG00000003273
Gene Name carbonic anhydrase 11
Synonyms CA-RP XI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL03189
Quality Score
Status
Chromosome 7
Chromosomal Location 45349267-45354106 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45351879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 103 (T103A)
Ref Sequence ENSEMBL: ENSMUSP00000003360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003360] [ENSMUST00000080885] [ENSMUST00000211357] [ENSMUST00000211513]
AlphaFold O70354
Predicted Effect probably damaging
Transcript: ENSMUST00000003360
AA Change: T103A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003360
Gene: ENSMUSG00000003273
AA Change: T103A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Carb_anhydrase 35 303 1.1e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080885
SMART Domains Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
low complexity region 71 98 N/A INTRINSIC
low complexity region 127 171 N/A INTRINSIC
BRLZ 253 317 5.17e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209796
Predicted Effect probably benign
Transcript: ENSMUST00000210027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211259
Predicted Effect probably benign
Transcript: ENSMUST00000211357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211748
Predicted Effect probably benign
Transcript: ENSMUST00000211513
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign Het
Other mutations in Car11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Car11 APN 7 45,350,716 (GRCm39) missense probably damaging 0.97
R1201:Car11 UTSW 7 45,352,904 (GRCm39) missense probably benign
R1625:Car11 UTSW 7 45,350,731 (GRCm39) missense probably benign 0.04
R1670:Car11 UTSW 7 45,352,949 (GRCm39) missense possibly damaging 0.52
R2430:Car11 UTSW 7 45,353,072 (GRCm39) splice site probably null
R2509:Car11 UTSW 7 45,350,783 (GRCm39) missense probably damaging 0.96
R2510:Car11 UTSW 7 45,350,783 (GRCm39) missense probably damaging 0.96
R2680:Car11 UTSW 7 45,351,909 (GRCm39) missense probably benign
R3926:Car11 UTSW 7 45,349,915 (GRCm39) missense probably benign 0.17
R5511:Car11 UTSW 7 45,349,885 (GRCm39) missense probably damaging 1.00
R5639:Car11 UTSW 7 45,352,045 (GRCm39) critical splice donor site probably null
R7395:Car11 UTSW 7 45,350,745 (GRCm39) nonsense probably null
R7490:Car11 UTSW 7 45,349,742 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02