Incidental Mutation 'R4586:Aqr'
ID |
344078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqr
|
Ensembl Gene |
ENSMUSG00000040383 |
Gene Name |
aquarius |
Synonyms |
|
MMRRC Submission |
041807-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4586 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113943058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1172
(T1172A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
AlphaFold |
Q8CFQ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043160
AA Change: T1172A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000047157 Gene: ENSMUSG00000040383 AA Change: T1172A
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: T1172A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099602 Gene: ENSMUSG00000040383 AA Change: T1172A
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: ENSMUST00000140441
|
Meta Mutation Damage Score |
0.0903 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (96/96) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,026,151 (GRCm39) |
S1269P |
probably benign |
Het |
Art2a |
A |
T |
7: 101,203,956 (GRCm39) |
L194* |
probably null |
Het |
Atrn |
T |
C |
2: 130,823,962 (GRCm39) |
F967S |
probably damaging |
Het |
Btnl1 |
A |
G |
17: 34,601,436 (GRCm39) |
D323G |
probably damaging |
Het |
Cadps |
C |
A |
14: 12,505,808 (GRCm38) |
C754F |
probably damaging |
Het |
Catspere2 |
A |
G |
1: 177,950,351 (GRCm39) |
D734G |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,837,401 (GRCm39) |
T131A |
probably benign |
Het |
Cfap298 |
A |
T |
16: 90,724,314 (GRCm39) |
V136D |
probably damaging |
Het |
Cic |
A |
T |
7: 24,972,203 (GRCm39) |
I645L |
probably benign |
Het |
Clca3a1 |
C |
A |
3: 144,722,619 (GRCm39) |
C251F |
probably damaging |
Het |
Cldn16 |
A |
T |
16: 26,296,308 (GRCm39) |
T95S |
probably benign |
Het |
Cntnap4 |
C |
T |
8: 113,537,342 (GRCm39) |
H738Y |
probably benign |
Het |
Col8a2 |
A |
T |
4: 126,204,812 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
T |
5: 72,487,042 (GRCm39) |
V706D |
probably damaging |
Het |
Cuzd1 |
G |
A |
7: 130,916,529 (GRCm39) |
P310L |
probably damaging |
Het |
Cyp4a12a |
T |
C |
4: 115,184,509 (GRCm39) |
F295L |
probably benign |
Het |
Cyp4a12b |
T |
G |
4: 115,289,703 (GRCm39) |
M190R |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
Dapp1 |
T |
C |
3: 137,644,932 (GRCm39) |
Q148R |
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,918,924 (GRCm39) |
S499R |
probably benign |
Het |
Ddx27 |
T |
A |
2: 166,861,904 (GRCm39) |
D135E |
probably benign |
Het |
Defb3 |
A |
T |
8: 19,345,172 (GRCm39) |
I43F |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,178,122 (GRCm39) |
F710V |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
Dnmt1 |
G |
A |
9: 20,837,989 (GRCm39) |
P242S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,615,917 (GRCm39) |
D3022N |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,901,725 (GRCm39) |
T464I |
probably damaging |
Het |
Epc1 |
T |
C |
18: 6,449,138 (GRCm39) |
N453S |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
Ercc5 |
G |
A |
1: 44,198,017 (GRCm39) |
V145I |
probably benign |
Het |
Evc |
A |
G |
5: 37,481,057 (GRCm39) |
S263P |
probably damaging |
Het |
Fancc |
A |
T |
13: 63,495,378 (GRCm39) |
M182K |
probably benign |
Het |
Fbxl3 |
G |
T |
14: 103,320,526 (GRCm39) |
A355E |
probably damaging |
Het |
Fig4 |
A |
C |
10: 41,064,628 (GRCm39) |
S872A |
probably damaging |
Het |
Gm14393 |
C |
A |
2: 174,904,497 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
A |
T |
6: 130,498,003 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5a |
T |
A |
6: 135,060,450 (GRCm39) |
M313K |
probably benign |
Het |
H2ac15 |
T |
C |
13: 21,937,882 (GRCm39) |
N39S |
possibly damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,236 (GRCm39) |
|
probably null |
Het |
Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
Hook3 |
T |
G |
8: 26,522,039 (GRCm39) |
K679T |
probably damaging |
Het |
Ints2 |
G |
T |
11: 86,140,101 (GRCm39) |
R244S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,884,151 (GRCm39) |
V945A |
probably damaging |
Het |
Itih2 |
C |
T |
2: 10,115,211 (GRCm39) |
S387N |
probably benign |
Het |
Jmjd7 |
T |
A |
2: 119,862,649 (GRCm39) |
M306K |
probably benign |
Het |
Klra2 |
T |
A |
6: 131,207,120 (GRCm39) |
D163V |
probably benign |
Het |
Kmo |
T |
A |
1: 175,478,138 (GRCm39) |
M208K |
probably damaging |
Het |
Kmo |
G |
T |
1: 175,478,139 (GRCm39) |
M208I |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,358 (GRCm39) |
T480A |
probably damaging |
Het |
Mogs |
G |
T |
6: 83,095,619 (GRCm39) |
R812L |
possibly damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,328 (GRCm39) |
I97T |
possibly damaging |
Het |
Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,262,457 (GRCm39) |
H303Q |
probably benign |
Het |
Ntaq1 |
A |
T |
15: 58,011,740 (GRCm39) |
I34F |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
Obox1 |
A |
T |
7: 15,290,152 (GRCm39) |
N165I |
possibly damaging |
Het |
Or1j1 |
C |
T |
2: 36,702,537 (GRCm39) |
C189Y |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,558 (GRCm39) |
E308D |
probably benign |
Het |
Or4c113 |
T |
G |
2: 88,885,498 (GRCm39) |
I91L |
possibly damaging |
Het |
Or6c35 |
A |
G |
10: 129,169,142 (GRCm39) |
T131A |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,683,885 (GRCm39) |
Y1127C |
probably damaging |
Het |
Pno1 |
T |
C |
11: 17,161,438 (GRCm39) |
K24E |
probably benign |
Het |
Qdpr |
T |
A |
5: 45,596,669 (GRCm39) |
N165I |
possibly damaging |
Het |
Robo2 |
A |
G |
16: 73,758,761 (GRCm39) |
V674A |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,889,864 (GRCm39) |
T598S |
unknown |
Het |
Samd11 |
A |
G |
4: 156,333,889 (GRCm39) |
L174P |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,573,395 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
G |
T |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,569,474 (GRCm39) |
|
probably benign |
Het |
Sox2 |
A |
G |
3: 34,705,193 (GRCm39) |
N210S |
probably benign |
Het |
Spag6 |
T |
C |
2: 18,736,958 (GRCm39) |
|
probably null |
Het |
Speer4b |
A |
T |
5: 27,703,036 (GRCm39) |
L154Q |
probably null |
Het |
Stt3a |
T |
A |
9: 36,653,089 (GRCm39) |
Q531L |
probably damaging |
Het |
Tcl1 |
A |
C |
12: 105,183,767 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
T |
12: 101,849,600 (GRCm39) |
M1488K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,798,747 (GRCm39) |
H509R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,593 (GRCm39) |
L425F |
possibly damaging |
Het |
Vmn1r238 |
T |
A |
18: 3,123,294 (GRCm39) |
K40M |
probably damaging |
Het |
Vopp1 |
G |
A |
6: 57,731,533 (GRCm39) |
P153S |
probably damaging |
Het |
Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
Zfp14 |
G |
T |
7: 29,738,341 (GRCm39) |
Q215K |
probably damaging |
Het |
Zfp473 |
A |
T |
7: 44,382,376 (GRCm39) |
Y651* |
probably null |
Het |
Zfp735 |
G |
T |
11: 73,580,550 (GRCm39) |
E16D |
possibly damaging |
Het |
Zfp846 |
G |
T |
9: 20,504,809 (GRCm39) |
C223F |
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 |
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 |
|
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'- CGTAAGGAAAGGCTGCAATCTC -3'
(R):5'- GGCCACTAAAACTGAAACAGTG -3'
Sequencing Primer
(F):5'- TAGCTGATCACATGGCTCAG -3'
(R):5'- AAACTGAAACAGTGTGGTTCCTTGG -3'
|
Posted On |
2015-09-24 |