Incidental Mutation 'R0371:Aqr'
| ID |
30458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
038577-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113988085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 159
(V159A)
|
| 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: V159A
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: V159A
| 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
AA Change: V159A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: V159A
| 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
|
| Meta Mutation Damage Score |
0.0697 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
99% (67/68) |
| 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 |
|---|
| Adcy9 |
G |
A |
16: 4,105,911 (GRCm39) |
R1068C |
probably benign |
Het |
| Afmid |
C |
T |
11: 117,725,966 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d2 |
G |
C |
4: 19,880,033 (GRCm39) |
T288R |
possibly damaging |
Het |
| Btnl1 |
T |
C |
17: 34,600,031 (GRCm39) |
V178A |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,398,674 (GRCm39) |
E51* |
probably null |
Het |
| Cep290 |
T |
A |
10: 100,354,426 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,256 (GRCm39) |
E914G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,450,307 (GRCm39) |
N208S |
probably benign |
Het |
| Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
| Cyp4a12a |
C |
G |
4: 115,183,880 (GRCm39) |
R229G |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,207,339 (GRCm39) |
V337M |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,186 (GRCm39) |
N321S |
probably benign |
Het |
| Enpep |
C |
T |
3: 129,077,516 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,929 (GRCm39) |
L560P |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,166,915 (GRCm39) |
H58R |
possibly damaging |
Het |
| Filip1 |
G |
T |
9: 79,767,373 (GRCm39) |
P147T |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,190 (GRCm39) |
E318K |
possibly damaging |
Het |
| Grk2 |
T |
C |
19: 4,341,614 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
T |
7: 106,021,986 (GRCm39) |
C339S |
unknown |
Het |
| Havcr1 |
T |
C |
11: 46,643,416 (GRCm39) |
I112T |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
| Ildr2 |
G |
A |
1: 166,131,133 (GRCm39) |
V330I |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,115 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,647,385 (GRCm39) |
|
probably benign |
Het |
| Irf2bpl |
C |
T |
12: 86,928,417 (GRCm39) |
W752* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,102,494 (GRCm39) |
H1211L |
probably benign |
Het |
| Klri2 |
A |
G |
6: 129,709,106 (GRCm39) |
*249R |
probably null |
Het |
| Ktn1 |
A |
T |
14: 47,961,460 (GRCm39) |
K1054* |
probably null |
Het |
| Lactb2 |
A |
G |
1: 13,720,984 (GRCm39) |
S83P |
possibly damaging |
Het |
| Lrrc3b |
A |
T |
14: 15,358,560 (GRCm38) |
C15* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,078 (GRCm39) |
I430V |
probably benign |
Het |
| Myo3b |
C |
T |
2: 70,083,304 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,096 (GRCm39) |
T696I |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,898 (GRCm39) |
D240G |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or2a25 |
A |
T |
6: 42,888,872 (GRCm39) |
R138S |
probably benign |
Het |
| Or3a1d |
T |
A |
11: 74,237,760 (GRCm39) |
I217F |
probably damaging |
Het |
| Or4k77 |
A |
T |
2: 111,199,498 (GRCm39) |
I174L |
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,585 (GRCm39) |
C96R |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,877,192 (GRCm39) |
V256M |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,067,958 (GRCm39) |
D409G |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,113,131 (GRCm39) |
D369E |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,523 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,224,067 (GRCm39) |
D27E |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
G |
19: 48,592,333 (GRCm39) |
I333V |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,555,622 (GRCm39) |
M105T |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,748,432 (GRCm39) |
S407T |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,113,983 (GRCm39) |
N854S |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,980,619 (GRCm39) |
S1460P |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,344,752 (GRCm39) |
Q160* |
probably null |
Het |
| Tchhl1 |
C |
A |
3: 93,376,884 (GRCm39) |
A27E |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,714,178 (GRCm39) |
D539G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,940,137 (GRCm39) |
F374L |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,533,283 (GRCm39) |
P770S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,394 (GRCm39) |
N393K |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,556 (GRCm39) |
H285L |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,941,583 (GRCm39) |
S700L |
possibly damaging |
Het |
| Wscd1 |
A |
G |
11: 71,679,549 (GRCm39) |
D474G |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,762,190 (GRCm39) |
N106S |
probably damaging |
Het |
| Zfp345 |
G |
T |
2: 150,313,983 (GRCm39) |
T518N |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,080,413 (GRCm39) |
S191C |
possibly damaging |
Het |
| Zkscan8 |
C |
T |
13: 21,710,844 (GRCm39) |
E89K |
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 |
|
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 |
|
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'- ACCCTTACAAATGTCAAAGCTCCGTTTA -3'
(R):5'- GCCTACGATGGTTTGTGCTCTCTC -3'
Sequencing Primer
(F):5'- GTCAAAGCTCCGTTTATAGGAAG -3'
(R):5'- ccagaggacgccagagag -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation