Incidental Mutation 'IGL02104:Aqp6'
ID279871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqp6
Ensembl Gene ENSMUSG00000043144
Gene Nameaquaporin 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02104
Quality Score
Status
Chromosome15
Chromosomal Location99601400-99605477 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99604278 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 285 (S285P)
Ref Sequence ENSEMBL: ENSMUSP00000023754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023754] [ENSMUST00000230075]
Predicted Effect probably benign
Transcript: ENSMUST00000023754
AA Change: S285P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023754
Gene: ENSMUSG00000043144
AA Change: S285P

DomainStartEndE-ValueType
Pfam:MIP 17 228 2.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230075
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Abcb5 T A 12: 118,940,680 Q125L probably damaging Het
Acap3 G A 4: 155,905,085 R662H probably damaging Het
Aox4 T A 1: 58,236,657 probably benign Het
Arhgef5 A T 6: 43,272,411 Q32L probably damaging Het
B3gnt6 G T 7: 98,194,101 D217E probably damaging Het
Chd6 T C 2: 160,977,512 I1338V probably benign Het
Clic6 A G 16: 92,498,479 E9G possibly damaging Het
Col11a1 T A 3: 114,181,397 probably null Het
Dcdc2b T A 4: 129,611,074 D88V probably benign Het
Dis3l T A 9: 64,310,329 K791N possibly damaging Het
Dmxl2 A T 9: 54,404,015 Y1008* probably null Het
Dnah11 A G 12: 118,192,390 V175A probably benign Het
Efl1 A G 7: 82,658,055 probably null Het
Fam117b C T 1: 59,949,119 T219I probably benign Het
Fgf21 T A 7: 45,615,224 Q28L probably benign Het
Folh1 T C 7: 86,744,430 Q391R possibly damaging Het
Gars A G 6: 55,077,697 D663G probably damaging Het
Lats2 A G 14: 57,734,012 F69L probably damaging Het
Lrp2 C T 2: 69,510,418 V1038M probably damaging Het
Map3k1 A T 13: 111,756,243 V826E probably damaging Het
Mapkap1 T A 2: 34,623,470 Y497* probably null Het
Mast3 T C 8: 70,787,906 I296V possibly damaging Het
Mon1a T G 9: 107,901,615 L346R probably damaging Het
Mphosph8 T C 14: 56,674,579 L353S probably benign Het
Muc5ac T C 7: 141,811,078 Y2634H probably damaging Het
Mylk A G 16: 34,815,435 T9A probably benign Het
Olfr1031 G T 2: 85,992,386 D190Y probably damaging Het
Olfr1440 T A 19: 12,394,899 V212D probably damaging Het
Olfr1484 T A 19: 13,585,604 M57K probably damaging Het
Olfr418 T C 1: 173,271,036 V287A probably damaging Het
Olfr543 C A 7: 102,477,337 V178F probably damaging Het
Olfr761 A C 17: 37,952,291 H244Q probably damaging Het
Olfr843 A T 9: 19,248,870 H176Q probably benign Het
Pabpc2 A C 18: 39,774,883 Q400H possibly damaging Het
Pigg A G 5: 108,342,097 Y856C probably damaging Het
Plekhn1 A T 4: 156,222,408 V508E probably benign Het
Pom121l2 C A 13: 21,982,275 H239N possibly damaging Het
Prdm2 A G 4: 143,133,427 S1098P probably benign Het
Rnf212 A G 5: 108,747,440 I41T possibly damaging Het
Rngtt A G 4: 33,320,517 probably null Het
Rpn2 C T 2: 157,321,827 T613M probably damaging Het
Scd4 G T 19: 44,344,747 V304F possibly damaging Het
Sez6l A G 5: 112,426,764 probably benign Het
Shroom3 A G 5: 92,940,389 R158G probably benign Het
Stil T C 4: 115,041,482 L1103P probably damaging Het
Tanc2 T C 11: 105,780,133 probably benign Het
Tmc1 C T 19: 20,832,454 D255N probably benign Het
Trank1 C A 9: 111,390,712 D2172E possibly damaging Het
Tyro3 G A 2: 119,813,200 R718H probably damaging Het
Vamp2 C A 11: 69,090,657 F114L probably benign Het
Wdr66 T A 5: 123,302,698 L1106* probably null Het
Other mutations in Aqp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02827:Aqp6 APN 15 99603011 missense probably damaging 1.00
R1482:Aqp6 UTSW 15 99604307 makesense probably null
R1708:Aqp6 UTSW 15 99602662 missense possibly damaging 0.92
R4324:Aqp6 UTSW 15 99601410 start codon destroyed probably null 0.08
R5756:Aqp6 UTSW 15 99602742 missense probably damaging 0.98
R5974:Aqp6 UTSW 15 99601436 missense probably benign 0.12
R6773:Aqp6 UTSW 15 99602677 missense probably damaging 0.98
R7599:Aqp6 UTSW 15 99603771 missense possibly damaging 0.59
X0025:Aqp6 UTSW 15 99601505 missense probably damaging 1.00
Posted On2015-04-16