Incidental Mutation 'R0023:Aqp11'
ID15192
Institutional Source Beutler Lab
Gene Symbol Aqp11
Ensembl Gene ENSMUSG00000042797
Gene Nameaquaporin 11
Synonymssjds, 1700015P13Rik
MMRRC Submission 038318-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0023 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location97724006-97738289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97726689 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 251 (I251N)
Ref Sequence ENSEMBL: ENSMUSP00000146215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206389]
Predicted Effect unknown
Transcript: ENSMUST00000084986
AA Change: I195N
SMART Domains Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: I195N

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 possibly damaging
Transcript: ENSMUST00000206389
AA Change: I251N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 78.2%
  • 3x: 67.5%
  • 10x: 40.9%
  • 20x: 21.9%
Validation Efficiency 89% (77/87)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A C 4: 144,528,997 D329A probably damaging Het
9530053A07Rik A G 7: 28,153,412 K1375E probably benign Het
Abcc12 T A 8: 86,538,333 H661L probably damaging Het
Acsbg2 C G 17: 56,847,710 A481P probably damaging Het
Aknad1 T A 3: 108,781,185 C610S probably benign Het
Anapc1 T A 2: 128,678,218 K226N probably damaging Het
Arid1a G T 4: 133,691,176 T1032K unknown Het
Atg16l1 T C 1: 87,789,465 V538A probably benign Het
Atp7b A T 8: 22,011,073 L938Q probably damaging Het
Bbs1 C T 19: 4,906,014 A44T probably damaging Het
Btbd9 A T 17: 30,530,214 V42E probably damaging Het
Carmil3 C G 14: 55,492,876 S15R probably damaging Het
Cfap44 T A 16: 44,421,220 F651L probably benign Het
Clcn3 A T 8: 60,933,070 probably benign Het
Copb1 A T 7: 114,250,094 D91E probably benign Het
Ctr9 G A 7: 111,043,947 A509T possibly damaging Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Emc1 A G 4: 139,371,009 D767G probably damaging Het
Fads1 G A 19: 10,186,897 probably benign Het
Frrs1 T C 3: 116,896,788 F27L probably damaging Het
Itga2 G A 13: 114,870,496 S432L possibly damaging Het
Lrig3 A C 10: 126,010,219 D839A probably damaging Het
Macf1 A T 4: 123,488,314 probably benign Het
Myo6 T C 9: 80,283,534 V789A possibly damaging Het
Nasp A G 4: 116,605,771 probably benign Het
Nsmaf A G 4: 6,408,680 Y700H probably damaging Het
Plekhs1 T G 19: 56,478,516 S260A probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
R3hdm1 T C 1: 128,211,192 probably benign Het
Rtcb A T 10: 85,949,451 probably benign Het
Suco A T 1: 161,845,585 probably null Het
Synrg G T 11: 84,008,653 D562Y probably damaging Het
Tfip11 T C 5: 112,332,009 S265P possibly damaging Het
Ucp3 G T 7: 100,485,043 V288L probably benign Het
Xylt1 G T 7: 117,634,701 G485V probably damaging Het
Yars A G 4: 129,197,188 T130A probably benign Het
Zfp652 A T 11: 95,753,469 R205* probably null Het
Other mutations in Aqp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Aqp11 APN 7 97726663 missense probably benign 0.01
IGL02685:Aqp11 APN 7 97737552 missense probably damaging 0.99
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
X0022:Aqp11 UTSW 7 97729061 missense probably damaging 1.00
Posted On2012-12-12