Incidental Mutation 'R5470:Aqr'
| ID |
433447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
043031-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5470 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113988056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 169
(L169F)
|
| 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: L169F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: L169F
| 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: L169F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: L169F
| 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 |
0.1605 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,215,715 (GRCm39) |
I813F |
probably damaging |
Het |
| Atp6v1d |
G |
A |
12: 78,892,058 (GRCm39) |
R182C |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,839,833 (GRCm39) |
A44S |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,368 (GRCm39) |
K389E |
possibly damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,673,045 (GRCm39) |
|
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,081 (GRCm39) |
S53T |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,450,066 (GRCm39) |
F154L |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,094,430 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,974 (GRCm39) |
K121R |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,429 (GRCm39) |
M256V |
probably benign |
Het |
| Deup1 |
T |
C |
9: 15,493,916 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,830,232 (GRCm39) |
N709D |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,976,109 (GRCm39) |
Y261C |
probably damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| En2 |
C |
T |
5: 28,371,922 (GRCm39) |
T133M |
probably benign |
Het |
| Endou |
A |
G |
15: 97,616,836 (GRCm39) |
F229S |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,534,791 (GRCm39) |
H79L |
probably damaging |
Het |
| Fah |
C |
T |
7: 84,242,393 (GRCm39) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fignl1 |
T |
A |
11: 11,752,640 (GRCm39) |
E138D |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,812,008 (GRCm39) |
L311P |
possibly damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,581 (GRCm39) |
V179E |
probably benign |
Het |
| Gm14129 |
G |
T |
2: 148,769,737 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
A |
G |
1: 163,220,078 (GRCm39) |
I188T |
probably damaging |
Het |
| Gpr152 |
G |
A |
19: 4,193,128 (GRCm39) |
C223Y |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,129,008 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
G |
T |
13: 64,221,713 (GRCm39) |
T104N |
probably damaging |
Het |
| Il6ra |
C |
T |
3: 89,793,302 (GRCm39) |
V283M |
probably benign |
Het |
| Klk1b16 |
A |
T |
7: 43,786,755 (GRCm39) |
I5F |
probably damaging |
Het |
| Krt74 |
G |
A |
15: 101,662,900 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
T |
A |
16: 32,818,960 (GRCm39) |
N650K |
probably damaging |
Het |
| Ly96 |
A |
T |
1: 16,779,710 (GRCm39) |
E126D |
probably benign |
Het |
| Mgarp |
C |
A |
3: 51,298,706 (GRCm39) |
R66L |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,242,147 (GRCm39) |
T586S |
probably damaging |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,643 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,139,450 (GRCm39) |
M3055T |
possibly damaging |
Het |
| Neo1 |
G |
T |
9: 58,838,350 (GRCm39) |
A478D |
probably damaging |
Het |
| Nmrk1 |
A |
T |
19: 18,617,248 (GRCm39) |
|
probably null |
Het |
| Nsl1 |
T |
C |
1: 190,812,737 (GRCm39) |
M184T |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,657,705 (GRCm39) |
N410S |
probably benign |
Het |
| Opalin |
A |
G |
19: 41,054,970 (GRCm39) |
S75P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,696 (GRCm39) |
I208T |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,944,733 (GRCm39) |
I284T |
possibly damaging |
Het |
| Or51ag1 |
T |
G |
7: 103,155,716 (GRCm39) |
I146L |
probably benign |
Het |
| Palb2 |
C |
A |
7: 121,713,574 (GRCm39) |
C903F |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,740,720 (GRCm39) |
W989R |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,856,661 (GRCm39) |
I389N |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,603,306 (GRCm39) |
C119R |
probably benign |
Het |
| Plekha1 |
T |
C |
7: 130,510,106 (GRCm39) |
V45A |
probably damaging |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,174 (GRCm39) |
D4G |
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,012,634 (GRCm39) |
T299S |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,138,880 (GRCm39) |
H527Q |
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,585,234 (GRCm39) |
R261H |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,115,907 (GRCm39) |
F681S |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,188,527 (GRCm39) |
H860Q |
probably benign |
Het |
| Strn |
A |
T |
17: 78,964,374 (GRCm39) |
H530Q |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,442,430 (GRCm39) |
R179G |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,115,381 (GRCm39) |
D350G |
probably benign |
Het |
| Tnrc6b |
G |
T |
15: 80,800,912 (GRCm39) |
R1406L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,935,947 (GRCm39) |
D2666G |
probably null |
Het |
| Ttn |
A |
T |
2: 76,560,208 (GRCm39) |
Y27652N |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,653,758 (GRCm39) |
E287D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,698 (GRCm39) |
I91V |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,046,981 (GRCm39) |
K76* |
probably null |
Het |
| Zfp689 |
C |
T |
7: 127,043,425 (GRCm39) |
A402T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,060,532 (GRCm39) |
E207G |
probably damaging |
Het |
| Zhx2 |
G |
T |
15: 57,686,470 (GRCm39) |
R613L |
possibly 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 |
|
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 |
|
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'- TGTCAAAGCTCCGTTTATAGGAAG -3'
(R):5'- AGGGAGTATTCATTTGGACGTTACG -3'
Sequencing Primer
(F):5'- AAGCTCCGTTTATAGGAAGTTATTAC -3'
(R):5'- GGTCCTCACAAGGTTCATGCTAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation