Incidental Mutation 'IGL02941:Aqr'
ID 364501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aqr
Ensembl Gene ENSMUSG00000040383
Gene Name aquarius
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02941
Quality Score
Status
Chromosome 2
Chromosomal Location 113931642-114005788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113943835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1101 (H1101L)
Ref Sequence ENSEMBL: ENSMUSP00000047157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043160] [ENSMUST00000102543]
AlphaFold Q8CFQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000043160
AA Change: H1101L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: H1101L

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 damaging
Transcript: ENSMUST00000102543
AA Change: H1101L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: H1101L

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: ENSMUST00000140441
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,249,284 (GRCm39) R106Q probably damaging Het
Amhr2 T C 15: 102,355,724 (GRCm39) V223A probably damaging Het
Arnt T A 3: 95,367,681 (GRCm39) probably benign Het
Cacnb2 G A 2: 14,963,640 (GRCm39) V85I probably benign Het
Cast A T 13: 74,848,806 (GRCm39) D727E probably damaging Het
Ccdc134 C T 15: 82,025,151 (GRCm39) R217W probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Col5a3 A G 9: 20,715,962 (GRCm39) S360P unknown Het
Cyp4f16 T C 17: 32,756,061 (GRCm39) I30T possibly damaging Het
Dop1b T C 16: 93,552,361 (GRCm39) F267L probably benign Het
Fbxo3 A G 2: 103,880,639 (GRCm39) T250A probably damaging Het
Gm4953 C T 1: 158,995,963 (GRCm39) noncoding transcript Het
Gm9242 T C 16: 97,292,279 (GRCm39) probably benign Het
Gsr G A 8: 34,179,453 (GRCm39) V354I probably damaging Het
H2bc21 A G 3: 96,128,732 (GRCm39) Y84C possibly damaging Het
Hecw1 T A 13: 14,552,311 (GRCm39) D96V probably damaging Het
Il18r1 A G 1: 40,537,711 (GRCm39) Y492C probably damaging Het
Itgb5 T G 16: 33,764,465 (GRCm39) probably benign Het
Lars2 T G 9: 123,288,650 (GRCm39) L832R probably damaging Het
Ms4a6c A G 19: 11,448,466 (GRCm39) probably benign Het
Nrxn1 T C 17: 90,515,811 (GRCm39) S1227G probably damaging Het
Or1j11 T C 2: 36,312,132 (GRCm39) C241R probably damaging Het
Or2c1 T C 16: 3,657,680 (GRCm39) V281A possibly damaging Het
Or52r1c A G 7: 102,735,528 (GRCm39) T263A probably benign Het
Pcdh17 A G 14: 84,685,747 (GRCm39) Y738C probably damaging Het
Pcsk5 C A 19: 17,424,865 (GRCm39) C1646F probably damaging Het
Pirb A G 7: 3,720,377 (GRCm39) V332A probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polrmt A T 10: 79,573,092 (GRCm39) probably benign Het
Saxo1 G T 4: 86,363,821 (GRCm39) R221S probably damaging Het
Specc1l A G 10: 75,077,022 (GRCm39) I93V probably benign Het
St8sia2 T A 7: 73,626,397 (GRCm39) probably benign Het
Tep1 A T 14: 51,103,494 (GRCm39) N265K probably damaging Het
Thbd A T 2: 148,248,954 (GRCm39) Y305N probably damaging Het
Tmem120a T C 5: 135,764,605 (GRCm39) T325A probably damaging Het
Vill G A 9: 118,895,955 (GRCm39) probably benign Het
Wdr35 A G 12: 9,077,507 (GRCm39) D1060G probably damaging Het
Xrn2 T A 2: 146,868,444 (GRCm39) F166I probably damaging Het
Zc3h7a T G 16: 10,976,458 (GRCm39) probably null Het
Zdhhc13 G A 7: 48,466,886 (GRCm39) probably benign Het
Zfp808 T A 13: 62,320,944 (GRCm39) N724K possibly damaging Het
Other mutations in Aqr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Aqr APN 2 113,956,423 (GRCm39) missense possibly damaging 0.90
IGL00694:Aqr APN 2 113,982,006 (GRCm39) missense probably damaging 1.00
IGL02113:Aqr APN 2 113,950,508 (GRCm39) nonsense probably null
IGL02297:Aqr APN 2 113,980,962 (GRCm39) missense probably benign 0.24
IGL02380:Aqr APN 2 113,940,417 (GRCm39) missense probably damaging 1.00
IGL02410:Aqr APN 2 113,967,398 (GRCm39) missense possibly damaging 0.85
IGL02413:Aqr APN 2 113,949,261 (GRCm39) missense possibly damaging 0.87
IGL02474:Aqr APN 2 113,943,127 (GRCm39) missense probably damaging 1.00
IGL02981:Aqr APN 2 113,965,305 (GRCm39) splice site probably benign
IGL03001:Aqr APN 2 113,977,400 (GRCm39) missense probably benign
IGL03092:Aqr APN 2 113,989,424 (GRCm39) missense probably benign 0.38
IGL03222:Aqr APN 2 113,951,737 (GRCm39) missense probably damaging 1.00
capricorn UTSW 2 113,936,363 (GRCm39) missense probably damaging 1.00
Goat UTSW 2 113,988,056 (GRCm39) missense probably damaging 1.00
Pliades UTSW 2 113,963,457 (GRCm39) missense probably damaging 1.00
sagittarius UTSW 2 113,979,497 (GRCm39) missense probably damaging 1.00
Zodiac UTSW 2 113,938,590 (GRCm39) missense probably damaging 0.96
PIT4531001:Aqr UTSW 2 113,961,215 (GRCm39) missense possibly damaging 0.94
R0103:Aqr UTSW 2 113,979,497 (GRCm39) missense probably damaging 1.00
R0103:Aqr UTSW 2 113,979,497 (GRCm39) missense probably damaging 1.00
R0152:Aqr UTSW 2 113,989,491 (GRCm39) missense probably benign 0.07
R0352:Aqr UTSW 2 114,000,533 (GRCm39) missense probably damaging 1.00
R0371:Aqr UTSW 2 113,988,085 (GRCm39) missense possibly damaging 0.80
R0374:Aqr UTSW 2 113,961,092 (GRCm39) missense probably damaging 1.00
R0550:Aqr UTSW 2 113,963,457 (GRCm39) missense probably damaging 1.00
R0604:Aqr UTSW 2 113,961,085 (GRCm39) missense probably benign 0.00
R0685:Aqr UTSW 2 113,971,458 (GRCm39) missense probably damaging 1.00
R1236:Aqr UTSW 2 113,947,136 (GRCm39) missense probably damaging 1.00
R1434:Aqr UTSW 2 113,980,890 (GRCm39) missense probably damaging 1.00
R1806:Aqr UTSW 2 113,992,133 (GRCm39) missense probably damaging 1.00
R2154:Aqr UTSW 2 113,967,485 (GRCm39) missense probably damaging 1.00
R2185:Aqr UTSW 2 113,961,015 (GRCm39) critical splice donor site probably null
R2377:Aqr UTSW 2 113,971,421 (GRCm39) missense possibly damaging 0.58
R2862:Aqr UTSW 2 113,967,398 (GRCm39) missense probably damaging 1.00
R3615:Aqr UTSW 2 113,967,368 (GRCm39) missense probably damaging 1.00
R3616:Aqr UTSW 2 113,967,368 (GRCm39) missense probably damaging 1.00
R3713:Aqr UTSW 2 113,949,150 (GRCm39) splice site probably benign
R3715:Aqr UTSW 2 113,949,150 (GRCm39) splice site probably benign
R4586:Aqr UTSW 2 113,943,058 (GRCm39) missense probably benign 0.06
R4663:Aqr UTSW 2 113,992,147 (GRCm39) nonsense probably null
R4809:Aqr UTSW 2 114,005,695 (GRCm39) utr 5 prime probably benign
R4887:Aqr UTSW 2 113,980,990 (GRCm39) missense probably damaging 1.00
R4888:Aqr UTSW 2 113,980,990 (GRCm39) missense probably damaging 1.00
R4952:Aqr UTSW 2 113,940,418 (GRCm39) missense probably damaging 1.00
R4974:Aqr UTSW 2 113,943,832 (GRCm39) missense probably damaging 1.00
R5050:Aqr UTSW 2 114,000,506 (GRCm39) critical splice donor site probably null
R5050:Aqr UTSW 2 113,943,090 (GRCm39) nonsense probably null
R5213:Aqr UTSW 2 113,943,808 (GRCm39) missense probably damaging 1.00
R5263:Aqr UTSW 2 113,947,059 (GRCm39) missense probably damaging 1.00
R5470:Aqr UTSW 2 113,988,056 (GRCm39) missense probably damaging 1.00
R5488:Aqr UTSW 2 113,963,554 (GRCm39) missense probably damaging 1.00
R5489:Aqr UTSW 2 113,963,554 (GRCm39) missense probably damaging 1.00
R5567:Aqr UTSW 2 113,979,451 (GRCm39) missense probably damaging 1.00
R5570:Aqr UTSW 2 113,979,451 (GRCm39) missense probably damaging 1.00
R5641:Aqr UTSW 2 113,979,515 (GRCm39) missense probably damaging 1.00
R5685:Aqr UTSW 2 113,986,746 (GRCm39) missense possibly damaging 0.87
R5963:Aqr UTSW 2 113,957,442 (GRCm39) missense probably damaging 1.00
R5992:Aqr UTSW 2 113,973,530 (GRCm39) nonsense probably null
R6015:Aqr UTSW 2 114,005,646 (GRCm39) start codon destroyed probably null 0.53
R6253:Aqr UTSW 2 113,986,758 (GRCm39) missense possibly damaging 0.93
R6264:Aqr UTSW 2 113,940,445 (GRCm39) missense probably damaging 1.00
R6773:Aqr UTSW 2 113,979,477 (GRCm39) missense possibly damaging 0.64
R6877:Aqr UTSW 2 113,947,052 (GRCm39) nonsense probably null
R7211:Aqr UTSW 2 113,965,204 (GRCm39) missense probably benign 0.01
R7232:Aqr UTSW 2 113,936,363 (GRCm39) missense probably damaging 1.00
R7308:Aqr UTSW 2 113,934,543 (GRCm39) missense possibly damaging 0.86
R7396:Aqr UTSW 2 113,950,427 (GRCm39) nonsense probably null
R7490:Aqr UTSW 2 113,989,349 (GRCm39) critical splice donor site probably null
R7526:Aqr UTSW 2 113,938,590 (GRCm39) missense probably damaging 0.96
R7629:Aqr UTSW 2 113,945,074 (GRCm39) missense probably damaging 1.00
R7828:Aqr UTSW 2 113,979,497 (GRCm39) missense probably damaging 1.00
R8037:Aqr UTSW 2 113,992,161 (GRCm39) missense probably damaging 1.00
R8166:Aqr UTSW 2 113,943,806 (GRCm39) missense possibly damaging 0.95
R8712:Aqr UTSW 2 113,949,358 (GRCm39) missense probably damaging 1.00
R8904:Aqr UTSW 2 113,967,474 (GRCm39) missense probably damaging 0.98
R9487:Aqr UTSW 2 113,934,528 (GRCm39) missense probably benign 0.04
R9527:Aqr UTSW 2 113,932,037 (GRCm39) missense probably benign 0.02
R9664:Aqr UTSW 2 113,971,396 (GRCm39) nonsense probably null
Z1176:Aqr UTSW 2 113,940,472 (GRCm39) missense probably benign 0.25
Z1176:Aqr UTSW 2 113,938,603 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18