Incidental Mutation 'R0103:Aqr'
ID |
34449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqr
|
Ensembl Gene |
ENSMUSG00000040383 |
Gene Name |
aquarius |
Synonyms |
|
MMRRC Submission |
038389-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0103 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113979497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 313
(I313F)
|
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: I313F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047157 Gene: ENSMUSG00000040383 AA Change: I313F
Domain | Start | End | E-Value | Type |
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: I313F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099602 Gene: ENSMUSG00000040383 AA Change: I313F
Domain | Start | End | E-Value | Type |
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: ENSMUST00000131785
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184524
|
Meta Mutation Damage Score |
0.8669 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
99% (84/85) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,223,951 (GRCm39) |
R443S |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,522,372 (GRCm39) |
|
probably benign |
Het |
Arfgap3 |
A |
T |
15: 83,206,922 (GRCm39) |
|
probably benign |
Het |
Asah2 |
G |
T |
19: 31,996,377 (GRCm39) |
H374N |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Ccdc106 |
C |
A |
7: 5,060,544 (GRCm39) |
Q35K |
probably benign |
Het |
Ccm2l |
G |
T |
2: 152,909,839 (GRCm39) |
E64* |
probably null |
Het |
Cep85l |
A |
T |
10: 53,154,270 (GRCm39) |
D776E |
possibly damaging |
Het |
Cfap52 |
T |
A |
11: 67,815,951 (GRCm39) |
I611F |
possibly damaging |
Het |
Cldn22 |
C |
T |
8: 48,277,589 (GRCm39) |
T9M |
probably benign |
Het |
Coa7 |
T |
C |
4: 108,195,338 (GRCm39) |
L89P |
possibly damaging |
Het |
Cox7a2l |
A |
T |
17: 83,821,701 (GRCm39) |
Y2N |
probably damaging |
Het |
Ctns |
A |
C |
11: 73,076,137 (GRCm39) |
I299M |
probably damaging |
Het |
Cyp27a1 |
A |
C |
1: 74,775,074 (GRCm39) |
E301A |
probably benign |
Het |
Cyp2b13 |
A |
T |
7: 25,788,135 (GRCm39) |
K421M |
probably damaging |
Het |
Cyp4f40 |
G |
T |
17: 32,895,282 (GRCm39) |
C468F |
probably damaging |
Het |
Cyp4f40 |
C |
A |
17: 32,895,283 (GRCm39) |
C468* |
probably null |
Het |
Dcun1d5 |
G |
A |
9: 7,188,788 (GRCm39) |
C74Y |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,730,683 (GRCm39) |
Y860C |
probably benign |
Het |
Dgkz |
T |
C |
2: 91,764,550 (GRCm39) |
T1028A |
probably benign |
Het |
Dhx58 |
T |
C |
11: 100,586,096 (GRCm39) |
T642A |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,922,019 (GRCm39) |
Y87C |
probably damaging |
Het |
Dnah6 |
C |
T |
6: 73,069,155 (GRCm39) |
E2511K |
probably damaging |
Het |
Entpd5 |
C |
A |
12: 84,443,717 (GRCm39) |
E9* |
probably null |
Het |
Fbln2 |
A |
C |
6: 91,248,532 (GRCm39) |
I1066L |
probably benign |
Het |
Fhl2 |
C |
T |
1: 43,192,381 (GRCm39) |
R4H |
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,229,884 (GRCm39) |
I17K |
probably damaging |
Het |
Galnt2l |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
Gbp7 |
T |
A |
3: 142,252,299 (GRCm39) |
N627K |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,265,381 (GRCm39) |
Y331C |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,366 (GRCm39) |
E521G |
possibly damaging |
Het |
Hibadh |
T |
A |
6: 52,534,862 (GRCm39) |
M173L |
probably benign |
Het |
Iba57 |
C |
T |
11: 59,054,439 (GRCm39) |
A27T |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,152,790 (GRCm39) |
I211V |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,696,280 (GRCm39) |
I155F |
possibly damaging |
Het |
Krt84 |
T |
C |
15: 101,438,671 (GRCm39) |
E272G |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,307,384 (GRCm39) |
V2892L |
probably benign |
Het |
Ltb |
A |
G |
17: 35,414,016 (GRCm39) |
|
probably benign |
Het |
Masp1 |
G |
A |
16: 23,276,768 (GRCm39) |
P579L |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,618,359 (GRCm39) |
M1724K |
probably benign |
Het |
Myo3a |
T |
G |
2: 22,436,360 (GRCm39) |
|
probably benign |
Het |
Myo9b |
C |
T |
8: 71,776,493 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
T |
11: 62,233,871 (GRCm39) |
Q444K |
possibly damaging |
Het |
Nek7 |
A |
T |
1: 138,471,980 (GRCm39) |
C53* |
probably null |
Het |
Obscn |
G |
T |
11: 58,953,522 (GRCm39) |
Y4044* |
probably null |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Pcdh15 |
A |
T |
10: 74,046,257 (GRCm39) |
D178V |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,578,845 (GRCm39) |
|
probably benign |
Het |
Phxr4 |
T |
C |
9: 13,343,087 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,593,583 (GRCm39) |
D1510V |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,460,537 (GRCm39) |
C4249R |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,972 (GRCm39) |
Y968H |
possibly damaging |
Het |
Prpf39 |
T |
C |
12: 65,102,057 (GRCm39) |
V378A |
possibly damaging |
Het |
Psd2 |
A |
G |
18: 36,137,770 (GRCm39) |
N455S |
probably damaging |
Het |
Ptch2 |
C |
A |
4: 116,966,622 (GRCm39) |
|
probably benign |
Het |
Rab4b |
A |
G |
7: 26,873,927 (GRCm39) |
I117T |
probably benign |
Het |
Rad9b |
A |
T |
5: 122,469,590 (GRCm39) |
V348E |
probably damaging |
Het |
Rcor1 |
T |
C |
12: 111,076,212 (GRCm39) |
|
probably benign |
Het |
Rhoc |
A |
T |
3: 104,699,307 (GRCm39) |
E32V |
possibly damaging |
Het |
Rnf40 |
T |
G |
7: 127,199,743 (GRCm39) |
V925G |
probably damaging |
Het |
Rptor |
G |
T |
11: 119,775,793 (GRCm39) |
R988L |
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,963,292 (GRCm39) |
Y176* |
probably null |
Het |
Slc7a1 |
T |
A |
5: 148,289,236 (GRCm39) |
K4* |
probably null |
Het |
Ss18 |
A |
C |
18: 14,812,478 (GRCm39) |
Y38D |
probably damaging |
Het |
Syt4 |
T |
A |
18: 31,580,273 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
T |
10: 23,837,304 (GRCm39) |
N305Y |
probably damaging |
Het |
Taar7b |
A |
T |
10: 23,876,192 (GRCm39) |
Y119F |
probably benign |
Het |
Tcaf1 |
G |
T |
6: 42,663,324 (GRCm39) |
D185E |
probably benign |
Het |
Tmem138 |
T |
C |
19: 10,552,316 (GRCm39) |
N62S |
possibly damaging |
Het |
Tnfaip2 |
C |
T |
12: 111,412,244 (GRCm39) |
T215M |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnfrsf25 |
C |
T |
4: 152,201,405 (GRCm39) |
P65S |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,067,240 (GRCm39) |
S495R |
possibly damaging |
Het |
Trpv3 |
T |
C |
11: 73,184,805 (GRCm39) |
F597S |
probably damaging |
Het |
Tsc22d4 |
A |
C |
5: 137,745,378 (GRCm39) |
M1L |
possibly damaging |
Het |
Ttc39a |
A |
G |
4: 109,278,650 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,591,570 (GRCm39) |
H21033P |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,484,577 (GRCm39) |
V149A |
possibly damaging |
Het |
Ush2a |
T |
G |
1: 188,051,267 (GRCm39) |
I251R |
possibly damaging |
Het |
Vamp4 |
T |
C |
1: 162,417,108 (GRCm39) |
C114R |
possibly damaging |
Het |
Wdr33 |
T |
C |
18: 31,966,388 (GRCm39) |
V135A |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,908 (GRCm39) |
V1067E |
probably damaging |
Het |
Zcwpw1 |
G |
A |
5: 137,808,375 (GRCm39) |
W274* |
probably null |
Het |
Zfp219 |
T |
A |
14: 52,244,163 (GRCm39) |
H627L |
probably damaging |
Het |
|
Other mutations in Aqr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
IGL02941:Aqr
|
APN |
2 |
113,943,835 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATATTACAAAGCTGAAGTTCCAGGC -3'
(R):5'- TTTTGAAAGAGCGTAGACCCATCTTCC -3'
Sequencing Primer
(F):5'- AGTTCCAGGCTGGATCAAC -3'
(R):5'- CAGTCTGTCACAGGACAGTCTAATG -3'
|
Posted On |
2013-05-09 |