Incidental Mutation 'R6253:Aqr'
| ID |
506309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
044370-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113986758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 204
(D204G)
|
| 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: D204G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: D204G
| 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 |
possibly damaging
Transcript: ENSMUST00000102543
AA Change: D204G
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: D204G
| 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: ENSMUST00000129504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131785
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
| Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
| Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
| Cep170 |
A |
T |
1: 176,607,960 (GRCm39) |
D165E |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
| Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
| Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
| Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
| Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
| Ece2 |
A |
C |
16: 20,457,932 (GRCm39) |
N356H |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
| Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
| Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,538,264 (GRCm39) |
S303R |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
| Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
| Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,558 (GRCm39) |
Y84F |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,802,160 (GRCm39) |
S278P |
probably benign |
Het |
| Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
| Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
| Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
| Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
| Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
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 |
|
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'- GGTGAGTGACCAAAATCTACTTG -3'
(R):5'- TTCAGATTGTCATAGGCCACATATCTG -3'
Sequencing Primer
(F):5'- GAAGACCTGAGCTTGTTCCCTAG -3'
(R):5'- TGTCATAGGCCACATATCTGAAGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation