Incidental Mutation 'IGL02685:Aqp11'
ID303527
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 #IGL02685
Quality Score
Status
Chromosome7
Chromosomal Location97724006-97738289 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97737552 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 146 (Y146H)
Ref Sequence ENSEMBL: ENSMUSP00000146215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206389]
Predicted Effect unknown
Transcript: ENSMUST00000084986
AA Change: Y129H
SMART Domains Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: Y129H

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 probably damaging
Transcript: ENSMUST00000206389
AA Change: Y146H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,905,947 Y779C probably damaging Het
Acad10 A G 5: 121,632,609 F532L probably benign Het
Adgrb3 A T 1: 25,084,242 probably null Het
Akr1d1 T C 6: 37,530,343 probably benign Het
Cdh2 A T 18: 16,646,500 L168Q probably damaging Het
Ces2f C T 8: 104,953,098 Q277* probably null Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Col22a1 A G 15: 71,801,915 V984A unknown Het
Col5a3 T C 9: 20,772,205 D1557G unknown Het
Cpb1 A T 3: 20,265,356 V188E probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb1 G T 9: 102,041,103 Y402* probably null Het
Foxm1 T C 6: 128,373,107 L319S possibly damaging Het
Gmppb T C 9: 108,049,919 probably benign Het
Grid2 T G 6: 64,345,816 M600R possibly damaging Het
Gstm6 T C 3: 107,941,191 K57E probably benign Het
Hars2 T G 18: 36,791,118 S422A probably benign Het
Igdcc4 T C 9: 65,133,825 M1092T possibly damaging Het
Ighv13-1 C A 12: 114,267,783 probably benign Het
Iqgap2 C A 13: 95,671,404 R785L probably damaging Het
Kalrn G A 16: 34,513,959 Q8* probably null Het
Mms22l A G 4: 24,591,133 T1035A probably benign Het
Myo1b A G 1: 51,778,499 Y535H probably damaging Het
Neb T A 2: 52,175,301 K6234N possibly damaging Het
Nlrp9c A G 7: 26,385,557 I199T probably damaging Het
Olfr1213 T A 2: 88,973,021 N290I possibly damaging Het
Olfr1328 A T 4: 118,933,937 F304I possibly damaging Het
Olfr651 C A 7: 104,553,150 T77K probably benign Het
Olfr851 T C 9: 19,496,802 I18T probably benign Het
Osmr T C 15: 6,815,573 E904G probably benign Het
Pde8b T C 13: 95,026,120 *831W probably null Het
Prkdc T C 16: 15,836,043 V3888A possibly damaging Het
Scn9a C A 2: 66,537,293 S693I probably damaging Het
Sepsecs T C 5: 52,647,192 T379A probably benign Het
Ska1 T A 18: 74,197,048 H207L probably benign Het
Slc17a9 C A 2: 180,733,809 Q175K probably damaging Het
Slc38a2 G A 15: 96,691,425 T396I probably benign Het
Slc9a4 A C 1: 40,629,582 H795P probably benign Het
Sorbs2 C T 8: 45,803,840 T955I probably benign Het
Spata4 A T 8: 54,600,928 H43L probably benign Het
Ss18l2 G A 9: 121,710,418 A6T possibly damaging Het
Sult1e1 C T 5: 87,579,906 W172* probably null Het
Tlcd1 T C 11: 78,179,537 probably benign Het
Tmc8 T C 11: 117,792,574 S652P probably damaging Het
Vps37b T C 5: 124,010,811 S54G probably damaging Het
Wdr26 A T 1: 181,183,780 S511T possibly damaging Het
Zfhx4 A G 3: 5,412,153 Y3251C probably damaging Het
Other mutations in Aqp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Aqp11 APN 7 97726663 missense probably benign 0.01
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 On2015-04-16