Incidental Mutation 'IGL01898:Aqp11'
ID179458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp11
Ensembl Gene ENSMUSG00000042797
Gene Nameaquaporin 11
Synonymssjds, 1700015P13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01898
Quality Score
Status
Chromosome7
Chromosomal Location97724006-97738289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97726663 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 260 (W260R)
Ref Sequence ENSEMBL: ENSMUSP00000146215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206389]
Predicted Effect unknown
Transcript: ENSMUST00000084986
AA Change: W204R
SMART Domains Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: W204R

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
Pfam:MIP 71 254 4.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205932
Predicted Effect probably benign
Transcript: ENSMUST00000206389
AA Change: W260R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display premature death, kidney failure, polycystic kidneys with cysts originating from the proximal tubules, and growth retardation. Mice homozygous for an ENU-induced mutation are apparently healthy but exhibit sudden death between2 and 3 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A T 2: 154,552,713 D195V probably damaging Het
Atp8a2 T C 14: 60,023,513 T390A probably damaging Het
Atp8b4 T C 2: 126,389,361 N431S probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc110 T G 8: 45,942,124 S351A possibly damaging Het
Cntnap4 T C 8: 112,856,307 F1006L possibly damaging Het
Ddr2 A G 1: 169,998,156 F292L possibly damaging Het
F830104G03Rik G A 3: 56,890,216 Q97* probably null Het
Fam171a2 T C 11: 102,439,756 T267A possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Igkv5-45 T A 6: 69,775,892 K69* probably null Het
Mios T C 6: 8,222,668 I534T probably benign Het
Nus1 A G 10: 52,430,067 D185G probably benign Het
Proc A G 18: 32,133,145 probably null Het
Psma3 T A 12: 70,984,674 H36Q probably benign Het
Sh3rf3 G T 10: 59,049,530 A412S probably damaging Het
Smgc A T 15: 91,844,524 probably null Het
Spta1 T A 1: 174,213,862 S1297R probably benign Het
Steap3 T C 1: 120,241,574 D293G probably benign Het
Tbx18 A T 9: 87,707,859 M342K possibly damaging Het
Trip11 T C 12: 101,885,676 M425V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Aqp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02685:Aqp11 APN 7 97737552 missense probably damaging 0.99
R0023:Aqp11 UTSW 7 97726689 missense possibly damaging 0.94
R0023:Aqp11 UTSW 7 97726689 missense possibly damaging 0.94
R0062:Aqp11 UTSW 7 97737861 missense probably benign 0.00
R0463:Aqp11 UTSW 7 97729021 missense probably benign 0.04
R1937:Aqp11 UTSW 7 97737518 missense possibly damaging 0.95
R2126:Aqp11 UTSW 7 97737485 missense probably benign 0.35
R3079:Aqp11 UTSW 7 97737588 missense probably benign 0.10
R3844:Aqp11 UTSW 7 97737839 missense probably damaging 1.00
R5183:Aqp11 UTSW 7 97737756 missense probably benign 0.00
R5578:Aqp11 UTSW 7 97737458 missense probably damaging 1.00
R5707:Aqp11 UTSW 7 97737428 missense possibly damaging 0.84
R7549:Aqp11 UTSW 7 97738077 start gained probably benign
R7618:Aqp11 UTSW 7 97737666 missense probably benign 0.00
X0022:Aqp11 UTSW 7 97729061 missense probably damaging 1.00
Posted On2014-05-07