Incidental Mutation 'IGL02114:Aqp8'
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ID280302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp8
Ensembl Gene ENSMUSG00000030762
Gene Nameaquaporin 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL02114
Quality Score
Status
Chromosome7
Chromosomal Location123462291-123468004 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 123464196 bp
ZygosityHeterozygous
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]
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: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Vmn2r30 T C 7: 7,337,409 I29V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Aqp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Aqp8 APN 7 123466730 splice site probably benign
IGL03080:Aqp8 APN 7 123466579 splice site probably benign
R0024:Aqp8 UTSW 7 123467440 missense probably benign 0.08
R1387:Aqp8 UTSW 7 123466668 missense probably benign 0.34
R1402:Aqp8 UTSW 7 123466639 missense probably damaging 1.00
R1402:Aqp8 UTSW 7 123466639 missense probably damaging 1.00
R5659:Aqp8 UTSW 7 123466666 nonsense probably null
R5901:Aqp8 UTSW 7 123462584 missense probably damaging 0.99
R7622:Aqp8 UTSW 7 123466660 missense possibly damaging 0.48
R7913:Aqp8 UTSW 7 123464272 missense possibly damaging 0.88
R7994:Aqp8 UTSW 7 123464272 missense possibly damaging 0.88
Posted On2015-04-16