Incidental Mutation 'IGL02114:Aqp8'
ID 280302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Name aquaporin 8
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02114
Quality Score
Status
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123063419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 90 (H90N)
Ref Sequence ENSEMBL: ENSMUSP00000095664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect probably damaging
Transcript: ENSMUST00000033023
AA Change: H89N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762
AA Change: H89N

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098056
AA Change: H90N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762
AA Change: H90N

DomainStartEndE-ValueType
Pfam:MIP 10 176 6.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206106
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene results in enlarged testes and a reduction in water permeability in plasma membrane of testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,844 (GRCm39) probably benign Het
Akap3 T C 6: 126,842,959 (GRCm39) V526A probably damaging Het
Ano6 C A 15: 95,841,341 (GRCm39) S479R probably damaging Het
Arih1 A T 9: 59,333,452 (GRCm39) C229S probably damaging Het
Col6a6 C A 9: 105,644,398 (GRCm39) probably null Het
Cp A G 3: 20,020,511 (GRCm39) E168G probably benign Het
Creb5 C T 6: 53,581,443 (GRCm39) probably benign Het
Cstdc3 T A 16: 36,131,617 (GRCm39) Y42* probably null Het
Cyp2c66 C A 19: 39,159,519 (GRCm39) probably benign Het
Dcpp2 C A 17: 24,119,609 (GRCm39) A141D possibly damaging Het
Dnah5 A G 15: 28,397,270 (GRCm39) D3321G probably damaging Het
Ecsit T C 9: 21,989,440 (GRCm39) probably benign Het
Gabra1 T C 11: 42,026,402 (GRCm39) I297V probably damaging Het
Gja8 T C 3: 96,827,341 (GRCm39) K107R probably benign Het
Gm16686 A T 4: 88,673,739 (GRCm39) L30Q probably null Het
Hbp1 T C 12: 31,980,674 (GRCm39) probably benign Het
Inhbc T C 10: 127,205,971 (GRCm39) I99V probably benign Het
Kcne3 T A 7: 99,833,697 (GRCm39) probably benign Het
Larp1 T C 11: 57,947,881 (GRCm39) Y926H probably damaging Het
Lhfpl5 G T 17: 28,795,149 (GRCm39) A59S possibly damaging Het
Mov10 T A 3: 104,702,634 (GRCm39) probably benign Het
Myl12b A T 17: 71,284,164 (GRCm39) N21K possibly damaging Het
Ncoa7 A T 10: 30,538,360 (GRCm39) V675E probably damaging Het
Nt5c1b T C 12: 10,425,444 (GRCm39) I255T probably damaging Het
Numa1 T A 7: 101,661,083 (GRCm39) probably benign Het
Or13c3 T A 4: 52,856,144 (GRCm39) Y123F probably damaging Het
Otop2 A T 11: 115,217,806 (GRCm39) D214V possibly damaging Het
Plec C A 15: 76,057,748 (GRCm39) G3928V probably damaging Het
Prkcz T C 4: 155,356,047 (GRCm39) E176G probably damaging Het
Qdpr G A 5: 45,592,018 (GRCm39) T106I possibly damaging Het
R3hdm2 T G 10: 127,319,978 (GRCm39) M481R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Skic2 C T 17: 35,060,092 (GRCm39) V145M probably damaging Het
Slx4ip T A 2: 136,842,120 (GRCm39) V15D probably damaging Het
Stat4 T C 1: 52,142,024 (GRCm39) S624P probably damaging Het
Tecpr2 T A 12: 110,935,321 (GRCm39) L1380Q probably damaging Het
Traf2 T C 2: 25,415,004 (GRCm39) I286V possibly damaging Het
Vmn2r30 T C 7: 7,340,408 (GRCm39) I29V possibly damaging Het
Wdr43 A G 17: 71,959,843 (GRCm39) Q561R probably benign Het
Zfp607b T A 7: 27,403,150 (GRCm39) F535L probably benign Het
Other mutations in Aqp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Aqp8 APN 7 123,065,953 (GRCm39) splice site probably benign
IGL03080:Aqp8 APN 7 123,065,802 (GRCm39) splice site probably benign
R0024:Aqp8 UTSW 7 123,066,663 (GRCm39) missense probably benign 0.08
R1387:Aqp8 UTSW 7 123,065,891 (GRCm39) missense probably benign 0.34
R1402:Aqp8 UTSW 7 123,065,862 (GRCm39) missense probably damaging 1.00
R1402:Aqp8 UTSW 7 123,065,862 (GRCm39) missense probably damaging 1.00
R5659:Aqp8 UTSW 7 123,065,889 (GRCm39) nonsense probably null
R5901:Aqp8 UTSW 7 123,061,807 (GRCm39) missense probably damaging 0.99
R7622:Aqp8 UTSW 7 123,065,883 (GRCm39) missense possibly damaging 0.48
R7913:Aqp8 UTSW 7 123,063,495 (GRCm39) missense possibly damaging 0.88
R8808:Aqp8 UTSW 7 123,065,922 (GRCm39) missense probably damaging 1.00
R9231:Aqp8 UTSW 7 123,061,813 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16