Incidental Mutation 'IGL03001:Aqr'
ID407345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqr
Ensembl Gene ENSMUSG00000040383
Gene Nameaquarius
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03001
Quality Score
Status
Chromosome2
Chromosomal Location114101170-114187024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114146919 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 363 (D363G)
Ref Sequence ENSEMBL: ENSMUSP00000099602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043160] [ENSMUST00000102543]
Predicted Effect probably benign
Transcript: ENSMUST00000043160
AA Change: D363G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: D363G

DomainStartEndE-ValueType
Pfam:Aquarius_N 18 802 N/A PFAM
Pfam:ResIII 797 911 8.2e-7 PFAM
Pfam:AAA_11 801 1111 9.6e-32 PFAM
Pfam:AAA_19 807 894 3.7e-11 PFAM
Pfam:AAA_12 1119 1312 2.1e-27 PFAM
low complexity region 1394 1417 N/A INTRINSIC
low complexity region 1455 1468 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102543
AA Change: D363G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: D363G

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
low complexity region 762 776 N/A INTRINSIC
Pfam:AAA_11 801 1111 3.2e-32 PFAM
Pfam:AAA_19 807 893 6.5e-11 PFAM
Pfam:AAA_12 1119 1312 2.6e-27 PFAM
low complexity region 1348 1359 N/A INTRINSIC
low complexity region 1371 1382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184524
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T C 5: 107,497,842 I9T probably damaging Het
Acan A C 7: 79,111,294 D1918A probably damaging Het
Ahcy C A 2: 155,064,828 D182Y probably damaging Het
Aldob T G 4: 49,542,844 D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 M53L probably benign Het
Asxl3 A G 18: 22,517,398 R815G probably damaging Het
Atf4 T A 15: 80,256,657 W83R probably damaging Het
Baz1a A T 12: 54,923,111 M587K possibly damaging Het
Cactin T A 10: 81,325,734 I700N probably damaging Het
Catsperg2 T C 7: 29,725,079 S95G probably benign Het
Cbwd1 T C 19: 24,922,638 K301E probably benign Het
Cd1d1 C T 3: 86,998,161 S175N probably benign Het
Chd4 C A 6: 125,101,566 A217E possibly damaging Het
Cnbd2 T C 2: 156,333,634 probably null Het
Cntnap5c G A 17: 58,055,639 C329Y probably damaging Het
Col12a1 C T 9: 79,633,673 G2391R probably damaging Het
Col5a3 T A 9: 20,807,744 D238V unknown Het
Cuedc1 T C 11: 88,182,489 V160A probably benign Het
Depdc5 T C 5: 32,945,090 V342A possibly damaging Het
Dnah6 T C 6: 73,149,140 D1338G probably benign Het
Dpyd T C 3: 118,917,242 V433A probably benign Het
Epb41l5 T C 1: 119,617,644 H179R probably damaging Het
Fbf1 T C 11: 116,165,886 probably benign Het
Flnb T C 14: 7,934,680 S2251P probably damaging Het
Fsip2 A T 2: 82,990,624 probably benign Het
Grin2b C T 6: 135,739,115 V735M probably damaging Het
Itpr3 T G 17: 27,089,612 probably benign Het
Lingo4 C T 3: 94,402,396 R214C probably damaging Het
Lrp1b C T 2: 40,927,889 R2329H probably damaging Het
Lrrc47 T C 4: 154,015,993 L342P probably damaging Het
Mmp15 T C 8: 95,368,217 S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 N95K probably benign Het
Nms C T 1: 38,941,912 P60S probably benign Het
Npas3 A T 12: 53,501,192 Y77F probably damaging Het
Olfr1158 T A 2: 87,990,149 Y13N probably benign Het
Olfr1173 T A 2: 88,274,845 D68V probably damaging Het
Olfr1412 T A 1: 92,588,551 S74T probably damaging Het
Olfr320 T G 11: 58,683,876 M1R probably null Het
Olfr561 G T 7: 102,775,253 C243F probably damaging Het
Olfr926 A G 9: 38,878,078 M301V probably benign Het
Picalm T C 7: 90,182,246 V429A probably benign Het
Pkhd1l1 T A 15: 44,558,004 I3056N probably damaging Het
Pomt1 G T 2: 32,244,326 M286I probably benign Het
Popdc2 A T 16: 38,369,519 Y176F probably benign Het
Psg21 A T 7: 18,652,485 M192K probably benign Het
Psma1 C A 7: 114,266,439 A219S probably benign Het
Rad21l T G 2: 151,668,469 H22P probably damaging Het
Rnf213 A G 11: 119,479,941 T4791A probably damaging Het
Sdk2 A G 11: 113,821,626 V1609A probably benign Het
Sema3e T A 5: 14,241,043 S606T probably benign Het
Slc16a4 A T 3: 107,311,542 R486S possibly damaging Het
Slc17a3 T C 13: 23,856,784 L331P probably damaging Het
Slc38a11 A T 2: 65,353,815 V164D probably damaging Het
Slc38a6 A G 12: 73,337,053 I173V probably benign Het
Synpo2 T C 3: 123,079,955 T1121A probably benign Het
Tfcp2 T C 15: 100,528,421 D83G possibly damaging Het
Thnsl1 A G 2: 21,211,644 T70A probably damaging Het
Tnfrsf21 A G 17: 43,087,895 I631V probably damaging Het
Tor2a C A 2: 32,757,317 H6Q possibly damaging Het
Ttn T C 2: 76,734,923 N19993S probably benign Het
Vps53 T C 11: 76,138,324 E119G probably damaging Het
Zkscan6 T C 11: 65,814,669 W69R probably damaging Het
Zswim8 T C 14: 20,714,391 S610P probably damaging Het
Other mutations in Aqr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Aqr APN 2 114125942 missense possibly damaging 0.90
IGL00694:Aqr APN 2 114151525 missense probably damaging 1.00
IGL02113:Aqr APN 2 114120027 nonsense probably null
IGL02297:Aqr APN 2 114150481 missense probably benign 0.24
IGL02380:Aqr APN 2 114109936 missense probably damaging 1.00
IGL02410:Aqr APN 2 114136917 missense possibly damaging 0.85
IGL02413:Aqr APN 2 114118780 missense possibly damaging 0.87
IGL02474:Aqr APN 2 114112646 missense probably damaging 1.00
IGL02941:Aqr APN 2 114113354 missense probably damaging 1.00
IGL02981:Aqr APN 2 114134824 splice site probably benign
IGL03092:Aqr APN 2 114158943 missense probably benign 0.38
IGL03222:Aqr APN 2 114121256 missense probably damaging 1.00
capricorn UTSW 2 114105882 missense probably damaging 1.00
Goat UTSW 2 114157575 missense probably damaging 1.00
Pliades UTSW 2 114132976 missense probably damaging 1.00
sagittarius UTSW 2 114149016 missense probably damaging 1.00
Zodiac UTSW 2 114108109 missense probably damaging 0.96
PIT4531001:Aqr UTSW 2 114130734 missense possibly damaging 0.94
R0103:Aqr UTSW 2 114149016 missense probably damaging 1.00
R0103:Aqr UTSW 2 114149016 missense probably damaging 1.00
R0152:Aqr UTSW 2 114159010 missense probably benign 0.07
R0352:Aqr UTSW 2 114170052 missense probably damaging 1.00
R0371:Aqr UTSW 2 114157604 missense possibly damaging 0.80
R0374:Aqr UTSW 2 114130611 missense probably damaging 1.00
R0550:Aqr UTSW 2 114132976 missense probably damaging 1.00
R0604:Aqr UTSW 2 114130604 missense probably benign 0.00
R0685:Aqr UTSW 2 114140977 missense probably damaging 1.00
R1236:Aqr UTSW 2 114116655 missense probably damaging 1.00
R1434:Aqr UTSW 2 114150409 missense probably damaging 1.00
R1806:Aqr UTSW 2 114161652 missense probably damaging 1.00
R2154:Aqr UTSW 2 114137004 missense probably damaging 1.00
R2185:Aqr UTSW 2 114130534 critical splice donor site probably null
R2377:Aqr UTSW 2 114140940 missense possibly damaging 0.58
R2862:Aqr UTSW 2 114136917 missense probably damaging 1.00
R3615:Aqr UTSW 2 114136887 missense probably damaging 1.00
R3616:Aqr UTSW 2 114136887 missense probably damaging 1.00
R3713:Aqr UTSW 2 114118669 splice site probably benign
R3715:Aqr UTSW 2 114118669 splice site probably benign
R4586:Aqr UTSW 2 114112577 missense probably benign 0.06
R4663:Aqr UTSW 2 114161666 nonsense probably null
R4809:Aqr UTSW 2 114175214 utr 5 prime probably benign
R4887:Aqr UTSW 2 114150509 missense probably damaging 1.00
R4888:Aqr UTSW 2 114150509 missense probably damaging 1.00
R4952:Aqr UTSW 2 114109937 missense probably damaging 1.00
R4974:Aqr UTSW 2 114113351 missense probably damaging 1.00
R5050:Aqr UTSW 2 114112609 nonsense probably null
R5050:Aqr UTSW 2 114170025 critical splice donor site probably null
R5213:Aqr UTSW 2 114113327 missense probably damaging 1.00
R5263:Aqr UTSW 2 114116578 missense probably damaging 1.00
R5470:Aqr UTSW 2 114157575 missense probably damaging 1.00
R5488:Aqr UTSW 2 114133073 missense probably damaging 1.00
R5489:Aqr UTSW 2 114133073 missense probably damaging 1.00
R5567:Aqr UTSW 2 114148970 missense probably damaging 1.00
R5570:Aqr UTSW 2 114148970 missense probably damaging 1.00
R5641:Aqr UTSW 2 114149034 missense probably damaging 1.00
R5685:Aqr UTSW 2 114156265 missense possibly damaging 0.87
R5963:Aqr UTSW 2 114126961 missense probably damaging 1.00
R5992:Aqr UTSW 2 114143049 nonsense probably null
R6015:Aqr UTSW 2 114175165 start codon destroyed probably null 0.53
R6253:Aqr UTSW 2 114156277 missense possibly damaging 0.93
R6264:Aqr UTSW 2 114109964 missense probably damaging 1.00
R6773:Aqr UTSW 2 114148996 missense possibly damaging 0.64
R6877:Aqr UTSW 2 114116571 nonsense probably null
R7211:Aqr UTSW 2 114134723 missense probably benign 0.01
R7232:Aqr UTSW 2 114105882 missense probably damaging 1.00
R7308:Aqr UTSW 2 114104062 missense possibly damaging 0.86
R7396:Aqr UTSW 2 114119946 nonsense probably null
R7490:Aqr UTSW 2 114158868 critical splice donor site probably null
R7526:Aqr UTSW 2 114108109 missense probably damaging 0.96
R7629:Aqr UTSW 2 114114593 missense probably damaging 1.00
R7828:Aqr UTSW 2 114149016 missense probably damaging 1.00
R8037:Aqr UTSW 2 114161680 missense probably damaging 1.00
R8166:Aqr UTSW 2 114113325 missense possibly damaging 0.95
R8712:Aqr UTSW 2 114118877 missense probably damaging 1.00
R8904:Aqr UTSW 2 114136993 missense probably damaging 0.98
Z1176:Aqr UTSW 2 114108122 missense probably damaging 0.98
Z1176:Aqr UTSW 2 114109991 missense probably benign 0.25
Posted On2016-08-02