Incidental Mutation 'R7396:Aqr'
| ID |
573793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| MMRRC Submission |
045478-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 113950427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 927
(Y927*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043160
AA Change: Y927*
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: Y927*
| 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 null
Transcript: ENSMUST00000102543
AA Change: Y927*
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: Y927*
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (79/79) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830403N18Rik |
G |
T |
X: 55,184,140 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,831,609 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,351,722 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,373,052 (GRCm39) |
L185H |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,368,068 (GRCm39) |
T293I |
probably benign |
Het |
| Adig |
T |
C |
2: 158,347,836 (GRCm39) |
L50P |
unknown |
Het |
| Ankrd28 |
A |
G |
14: 31,424,159 (GRCm39) |
S994P |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,590,813 (GRCm39) |
D366E |
probably damaging |
Het |
| Asxl2 |
T |
A |
12: 3,492,529 (GRCm39) |
I38N |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,780,057 (GRCm39) |
I1092V |
|
Het |
| B4galnt1 |
A |
G |
10: 127,007,485 (GRCm39) |
E462G |
possibly damaging |
Het |
| BC048671 |
T |
A |
6: 90,280,273 (GRCm39) |
V63E |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,988,889 (GRCm39) |
V406A |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,645,668 (GRCm39) |
I234L |
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,928,432 (GRCm39) |
S436A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,870,374 (GRCm39) |
|
probably null |
Het |
| Ces1b |
G |
T |
8: 93,789,757 (GRCm39) |
N390K |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,927 (GRCm39) |
Q671R |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,524 (GRCm39) |
S523R |
|
Het |
| Dbr1 |
C |
A |
9: 99,465,443 (GRCm39) |
N340K |
probably damaging |
Het |
| Dram1 |
T |
A |
10: 88,176,507 (GRCm39) |
T73S |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,817,501 (GRCm39) |
R39S |
possibly damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,324,887 (GRCm39) |
I515S |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,094,111 (GRCm39) |
N434I |
probably benign |
Het |
| Ercc6 |
C |
T |
14: 32,291,762 (GRCm39) |
T1042I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,803,449 (GRCm39) |
P1057L |
possibly damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,278,091 (GRCm39) |
N29I |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,954 (GRCm39) |
D344G |
probably benign |
Het |
| Fgf15 |
G |
T |
7: 144,453,542 (GRCm39) |
V172L |
probably benign |
Het |
| Fmod |
T |
C |
1: 133,967,978 (GRCm39) |
V6A |
probably benign |
Het |
| Furin |
C |
A |
7: 80,047,862 (GRCm39) |
R86L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,160,207 (GRCm39) |
V297A |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,476 (GRCm39) |
D967G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,439,382 (GRCm39) |
T5601A |
possibly damaging |
Het |
| Hsbp1l1 |
G |
T |
18: 80,276,634 (GRCm39) |
P70Q |
not run |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,033 (GRCm39) |
V155A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,617 (GRCm39) |
M97K |
possibly damaging |
Het |
| Kcnj6 |
C |
A |
16: 94,563,306 (GRCm39) |
L397F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 46,014,801 (GRCm39) |
|
probably null |
Het |
| Lgi2 |
A |
T |
5: 52,695,753 (GRCm39) |
I402N |
probably damaging |
Het |
| Lrat |
T |
A |
3: 82,810,590 (GRCm39) |
R144* |
probably null |
Het |
| Mfhas1 |
G |
T |
8: 36,057,353 (GRCm39) |
L609F |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,495,994 (GRCm39) |
I398K |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,362,152 (GRCm39) |
D1821V |
unknown |
Het |
| Myh2 |
T |
C |
11: 67,085,554 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,234,044 (GRCm39) |
E386G |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,443,802 (GRCm39) |
V76M |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,891 (GRCm39) |
T128A |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,765,615 (GRCm39) |
D59E |
probably benign |
Het |
| Or2j6 |
C |
T |
7: 139,980,476 (GRCm39) |
R161H |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,477 (GRCm39) |
V205A |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,558 (GRCm39) |
S315N |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,522 (GRCm39) |
V1513D |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,589,902 (GRCm39) |
T734K |
unknown |
Het |
| Phc2 |
A |
G |
4: 128,641,954 (GRCm39) |
R759G |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,375 (GRCm39) |
N1176K |
probably benign |
Het |
| Plec |
T |
A |
15: 76,059,089 (GRCm39) |
Y3616F |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,282,707 (GRCm39) |
T426N |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,462 (GRCm39) |
T1245A |
not run |
Het |
| Rilp |
T |
C |
11: 75,401,712 (GRCm39) |
V164A |
probably damaging |
Het |
| Rnf39 |
A |
T |
17: 37,257,971 (GRCm39) |
T168S |
probably damaging |
Het |
| Rptor |
C |
G |
11: 119,763,181 (GRCm39) |
Q922E |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,396 (GRCm39) |
L236Q |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,845,324 (GRCm39) |
T379A |
probably benign |
Het |
| Spata22 |
C |
A |
11: 73,236,702 (GRCm39) |
T336N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,547 (GRCm39) |
S232P |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,110,722 (GRCm39) |
C98S |
possibly damaging |
Het |
| Stard6 |
T |
C |
18: 70,633,506 (GRCm39) |
V171A |
possibly damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,072 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,728,519 (GRCm39) |
D621G |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,277,973 (GRCm39) |
T353M |
possibly damaging |
Het |
| Trim68 |
A |
T |
7: 102,327,569 (GRCm39) |
Y461* |
probably null |
Het |
| Usp1 |
A |
G |
4: 98,814,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,641 (GRCm39) |
I502F |
probably benign |
Het |
| Wbp4 |
C |
A |
14: 79,714,261 (GRCm39) |
G84C |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp787 |
A |
G |
7: 6,135,106 (GRCm39) |
*382Q |
probably null |
Het |
| Zfp831 |
G |
T |
2: 174,487,002 (GRCm39) |
C559F |
possibly damaging |
Het |
| Zgpat |
G |
C |
2: 181,007,882 (GRCm39) |
A140P |
probably benign |
Het |
| Zscan4e |
T |
A |
7: 11,041,002 (GRCm39) |
Y290F |
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 |
|
R7308:Aqr
|
UTSW |
2 |
113,934,543 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- AAAGGCTGCAACCGCTGAAG -3'
(R):5'- GTGGTGTGGCCCAAAATATACTAC -3'
Sequencing Primer
(F):5'- CTGCAACCGCTGAAGTAATAATAG -3'
(R):5'- GCTCCCTTAAATTCTGTCTTTGATTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation