Incidental Mutation 'IGL01900:Car14'
ID 179497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car14
Ensembl Gene ENSMUSG00000038526
Gene Name carbonic anhydrase 14
Synonyms CA XIV
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01900
Quality Score
Status
Chromosome 3
Chromosomal Location 95805080-95812003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95808533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000117464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015894] [ENSMUST00000036181] [ENSMUST00000056710] [ENSMUST00000147962]
AlphaFold Q9WVT6
Predicted Effect probably benign
Transcript: ENSMUST00000015894
SMART Domains Protein: ENSMUSP00000015894
Gene: ENSMUSG00000015750

DomainStartEndE-ValueType
Pfam:Aph-1 2 246 7.3e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036181
AA Change: D43G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036983
Gene: ENSMUSG00000038526
AA Change: D43G

DomainStartEndE-ValueType
Carb_anhydrase 22 278 2.43e-123 SMART
transmembrane domain 290 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056710
SMART Domains Protein: ENSMUSP00000058846
Gene: ENSMUSG00000015750

DomainStartEndE-ValueType
Pfam:Aph-1 2 239 1.2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126722
Predicted Effect probably benign
Transcript: ENSMUST00000147962
AA Change: D27G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117464
Gene: ENSMUSG00000038526
AA Change: D27G

DomainStartEndE-ValueType
Carb_anhydrase 8 171 1.79e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197232
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 XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and display normal growth, health and fertility. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc2 T C 11: 101,219,649 (GRCm39) Y627H probably damaging Het
Col6a3 A G 1: 90,722,732 (GRCm39) probably null Het
Ddx60 T C 8: 62,453,743 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,725,654 (GRCm39) E236G probably benign Het
Fpr1 T A 17: 18,097,783 (GRCm39) T69S probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hmcn1 A T 1: 150,618,011 (GRCm39) probably benign Het
Hook2 T C 8: 85,727,940 (GRCm39) probably benign Het
Krt6b C T 15: 101,585,981 (GRCm39) R364H possibly damaging Het
Myh2 T A 11: 67,074,609 (GRCm39) I720N probably benign Het
Optc A G 1: 133,829,867 (GRCm39) V181A possibly damaging Het
Or52n5 A G 7: 104,588,369 (GRCm39) D212G probably damaging Het
Ptprn A G 1: 75,228,892 (GRCm39) probably benign Het
Rnf213 A G 11: 119,333,841 (GRCm39) T3018A probably benign Het
Rps27l T A 9: 66,854,225 (GRCm39) probably benign Het
Serpinb6c A T 13: 34,064,173 (GRCm39) M294K possibly damaging Het
Spef1l A T 7: 139,552,483 (GRCm39) V274E probably damaging Het
Tekt2 G T 4: 126,218,421 (GRCm39) T83K probably benign Het
Vmn2r62 T A 7: 42,438,495 (GRCm39) N114Y probably benign Het
Other mutations in Car14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Car14 APN 3 95,806,128 (GRCm39) missense probably damaging 1.00
IGL01287:Car14 APN 3 95,806,871 (GRCm39) missense possibly damaging 0.68
IGL02402:Car14 APN 3 95,806,870 (GRCm39) missense possibly damaging 0.92
IGL03152:Car14 APN 3 95,806,157 (GRCm39) missense probably damaging 1.00
R0109:Car14 UTSW 3 95,806,763 (GRCm39) missense probably benign 0.00
R1729:Car14 UTSW 3 95,808,560 (GRCm39) missense possibly damaging 0.90
R4521:Car14 UTSW 3 95,811,690 (GRCm39) utr 5 prime probably benign
R4776:Car14 UTSW 3 95,806,185 (GRCm39) missense probably benign 0.30
R5709:Car14 UTSW 3 95,806,300 (GRCm39) missense possibly damaging 0.60
R6358:Car14 UTSW 3 95,805,487 (GRCm39) missense possibly damaging 0.93
R6895:Car14 UTSW 3 95,805,472 (GRCm39) missense probably benign
R7217:Car14 UTSW 3 95,806,629 (GRCm39) missense probably damaging 1.00
R7648:Car14 UTSW 3 95,805,507 (GRCm39) missense probably benign 0.01
R7763:Car14 UTSW 3 95,811,684 (GRCm39) start codon destroyed probably null 0.01
R8530:Car14 UTSW 3 95,807,670 (GRCm39) missense probably benign
X0026:Car14 UTSW 3 95,806,521 (GRCm39) unclassified probably benign
X0064:Car14 UTSW 3 95,808,411 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07