Incidental Mutation 'R3844:Aqp11'
ID 277275
Institutional Source Beutler Lab
Gene Symbol Aqp11
Ensembl Gene ENSMUSG00000042797
Gene Name aquaporin 11
Synonyms sjds, 1700015P13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3844 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 97375586-97387454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97387046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 50 (E50V)
Ref Sequence ENSEMBL: ENSMUSP00000146215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206389]
AlphaFold Q8BHH1
Predicted Effect unknown
Transcript: ENSMUST00000084986
AA Change: E33V
SMART Domains Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: E33V

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: E50V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,032 (GRCm39) R2* probably null Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam5 T A 8: 25,303,426 (GRCm39) D167V probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Arid4b C T 13: 14,361,645 (GRCm39) S703L probably damaging Het
Ccl25 T G 8: 4,404,183 (GRCm39) V179G possibly damaging Het
Clk2 A G 3: 89,077,710 (GRCm39) N222S probably benign Het
Col13a1 C T 10: 61,685,988 (GRCm39) G668D unknown Het
Col20a1 A G 2: 180,634,242 (GRCm39) E69G probably damaging Het
Dcc G A 18: 71,959,257 (GRCm39) H172Y probably benign Het
Dock8 T G 19: 25,042,794 (GRCm39) Y125* probably null Het
E2f1 A G 2: 154,402,748 (GRCm39) S340P probably benign Het
Fars2 T C 13: 36,389,084 (GRCm39) F191S probably damaging Het
Filip1l T C 16: 57,392,790 (GRCm39) V888A probably benign Het
Fn1 T A 1: 71,648,733 (GRCm39) H1392L possibly damaging Het
Fsip2 C T 2: 82,819,950 (GRCm39) H5228Y possibly damaging Het
Galnt14 A G 17: 74,016,924 (GRCm39) probably null Het
Grm8 A T 6: 27,429,507 (GRCm39) N462K possibly damaging Het
Ireb2 A G 9: 54,799,789 (GRCm39) E410G probably damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Kdm7a T A 6: 39,158,513 (GRCm39) I77F probably damaging Het
Klhl11 A T 11: 100,363,133 (GRCm39) M141K possibly damaging Het
Lactbl1 A G 4: 136,365,271 (GRCm39) H541R possibly damaging Het
Mylk A G 16: 34,742,247 (GRCm39) M920V probably benign Het
Or2w1b A G 13: 21,300,233 (GRCm39) T124A possibly damaging Het
Piwil4 T A 9: 14,641,256 (GRCm39) T179S possibly damaging Het
Ranbp2 T C 10: 58,313,717 (GRCm39) L1479P possibly damaging Het
Rpl3l A G 17: 24,952,916 (GRCm39) H292R probably benign Het
Rps6ka4 C A 19: 6,815,171 (GRCm39) E202* probably null Het
Rsph14 T C 10: 74,867,107 (GRCm39) D13G possibly damaging Het
Sri A G 5: 8,114,576 (GRCm39) D177G probably damaging Het
Tenm2 A G 11: 35,938,365 (GRCm39) V1437A probably damaging Het
Tiam2 A G 17: 3,471,926 (GRCm39) R523G probably damaging Het
Tm9sf3 A T 19: 41,205,555 (GRCm39) L561M possibly damaging Het
Tnrc6c G T 11: 117,646,309 (GRCm39) D1417Y probably damaging Het
Ubr4 C T 4: 139,186,437 (GRCm39) S648L probably damaging Het
Zfp827 T A 8: 79,863,248 (GRCm39) L69Q probably damaging Het
Other mutations in Aqp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Aqp11 APN 7 97,375,870 (GRCm39) missense probably benign 0.01
IGL02685:Aqp11 APN 7 97,386,759 (GRCm39) missense probably damaging 0.99
R0023:Aqp11 UTSW 7 97,375,896 (GRCm39) missense possibly damaging 0.94
R0023:Aqp11 UTSW 7 97,375,896 (GRCm39) missense possibly damaging 0.94
R0062:Aqp11 UTSW 7 97,387,068 (GRCm39) missense probably benign 0.00
R0463:Aqp11 UTSW 7 97,378,228 (GRCm39) missense probably benign 0.04
R1937:Aqp11 UTSW 7 97,386,725 (GRCm39) missense possibly damaging 0.95
R2126:Aqp11 UTSW 7 97,386,692 (GRCm39) missense probably benign 0.35
R3079:Aqp11 UTSW 7 97,386,795 (GRCm39) missense probably benign 0.10
R5183:Aqp11 UTSW 7 97,386,963 (GRCm39) missense probably benign 0.00
R5578:Aqp11 UTSW 7 97,386,665 (GRCm39) missense probably damaging 1.00
R5707:Aqp11 UTSW 7 97,386,635 (GRCm39) missense possibly damaging 0.84
R7549:Aqp11 UTSW 7 97,387,284 (GRCm39) start gained probably benign
R7618:Aqp11 UTSW 7 97,386,873 (GRCm39) missense probably benign 0.00
X0022:Aqp11 UTSW 7 97,378,268 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATCATCTGCATCATCACGCC -3'
(R):5'- TCAGGTCACATCTGCACAG -3'

Sequencing Primer
(F):5'- AGATCAGTGTCAGAGTCC -3'
(R):5'- ACTTCGGACTCCAGCCC -3'
Posted On 2015-04-06