Incidental Mutation 'IGL03080:Aqp8'
ID 417844
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: 0.184) question?
Stock # IGL03080
Quality Score
Status
Chromosome 7
Chromosomal Location 123061517-123067226 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 123065802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033023] [ENSMUST00000098056]
AlphaFold P56404
Predicted Effect probably benign
Transcript: ENSMUST00000033023
SMART Domains Protein: ENSMUSP00000033023
Gene: ENSMUSG00000030762

DomainStartEndE-ValueType
Pfam:MIP 30 245 1.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098056
SMART Domains Protein: ENSMUSP00000095664
Gene: ENSMUSG00000030762

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 T C 8: 80,429,630 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,827 (GRCm39) M734V probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 A G 6: 106,632,500 (GRCm39) D508G probably damaging Het
Cyp11b1 A T 15: 74,711,285 (GRCm39) probably null Het
Dnah8 A G 17: 30,937,980 (GRCm39) D1619G probably benign Het
Eif1ad17 A T 12: 87,978,615 (GRCm39) probably benign Het
Ephb4 T A 5: 137,352,345 (GRCm39) probably benign Het
Ffar3 A T 7: 30,554,747 (GRCm39) V191E probably damaging Het
Galnt1 T A 18: 24,402,574 (GRCm39) D310E probably damaging Het
Igf2r T C 17: 12,945,563 (GRCm39) Y342C probably benign Het
Jade1 T A 3: 41,554,510 (GRCm39) C251* probably null Het
Jhy T C 9: 40,855,653 (GRCm39) E278G probably damaging Het
Kif24 A C 4: 41,394,417 (GRCm39) S819A probably benign Het
Lrp8 T C 4: 107,712,996 (GRCm39) L344P probably damaging Het
Lrrc27 A G 7: 138,810,153 (GRCm39) T375A probably benign Het
Mbd3 C T 10: 80,229,085 (GRCm39) R204Q probably damaging Het
Nab2 T C 10: 127,500,663 (GRCm39) N143S possibly damaging Het
Nkiras2 T C 11: 100,515,105 (GRCm39) probably null Het
Or7e174 A T 9: 20,012,705 (GRCm39) I217F probably damaging Het
Palm C A 10: 79,654,951 (GRCm39) H74Q probably damaging Het
Pros1 T A 16: 62,738,506 (GRCm39) N408K probably damaging Het
Psg23 T A 7: 18,340,910 (GRCm39) Y448F probably damaging Het
Ranbp2 C A 10: 58,312,613 (GRCm39) P1111Q probably benign Het
Rims2 A G 15: 39,399,299 (GRCm39) S1115G probably damaging Het
Scn7a T C 2: 66,528,160 (GRCm39) T777A probably benign Het
Spata31h1 T C 10: 82,119,816 (GRCm39) D428G probably damaging Het
Stard3nl A T 13: 19,554,648 (GRCm39) probably null Het
Sult1d1 T C 5: 87,704,847 (GRCm39) D214G probably benign Het
Tmprss12 T C 15: 100,190,529 (GRCm39) W300R probably damaging Het
Tmprss2 T C 16: 97,398,044 (GRCm39) Y44C probably damaging Het
Ttk A G 9: 83,725,136 (GRCm39) N154D probably damaging Het
Tut4 T A 4: 108,363,021 (GRCm39) S444R probably damaging Het
Tyw1 T C 5: 130,295,896 (GRCm39) Y108H probably damaging Het
Vmn2r44 C A 7: 8,386,244 (GRCm39) probably benign Het
Zfand1 A G 3: 10,405,797 (GRCm39) *269Q probably null Het
Zfp142 A T 1: 74,610,368 (GRCm39) D1039E probably benign Het
Zkscan5 G T 5: 145,155,460 (GRCm39) S377I probably damaging Het
Other mutations in Aqp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Aqp8 APN 7 123,063,419 (GRCm39) missense probably damaging 1.00
IGL02580:Aqp8 APN 7 123,065,953 (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 2016-08-02