Incidental Mutation 'R7308:Aqr'
ID |
567369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqr
|
Ensembl Gene |
ENSMUSG00000040383 |
Gene Name |
aquarius |
Synonyms |
|
MMRRC Submission |
045323-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7308 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 113934543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1366
(A1366V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
AlphaFold |
Q8CFQ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043160
AA Change: A1366V
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047157 Gene: ENSMUSG00000040383 AA Change: A1366V
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 benign
Transcript: ENSMUST00000102543
|
SMART Domains |
Protein: ENSMUSP00000099602 Gene: ENSMUSG00000040383
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,795,464 (GRCm39) |
|
probably benign |
Het |
Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
Cdca2 |
G |
A |
14: 67,932,440 (GRCm39) |
P488S |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
Col4a2 |
T |
G |
8: 11,456,856 (GRCm39) |
|
probably null |
Het |
Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,534,006 (GRCm39) |
S1118T |
probably benign |
Het |
Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
Taok3 |
T |
A |
5: 117,338,216 (GRCm39) |
Y91* |
probably null |
Het |
Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
probably benign |
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 |
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 |
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'- TATGCTAACCAGACAGCCCG -3'
(R):5'- CATGACCTCCATACTCTAGCG -3'
Sequencing Primer
(F):5'- GGACAATGGCTATGATCATTATCTAG -3'
(R):5'- ACTCTAGCGGTTGTTACAGATTCAG -3'
|
Posted On |
2019-06-26 |