Incidental Mutation 'IGL03001:Aqr'
| ID |
407345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
114101170-114187024 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114146919 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 363
(D363G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043160
AA Change: D363G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: D363G
| 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: D363G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: D363G
| 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: ENSMUST00000184524
|
| Coding Region Coverage |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830010M20Rik |
T |
C |
5: 107,497,842 (GRCm38) |
I9T |
probably damaging |
Het |
| Acan |
A |
C |
7: 79,111,294 (GRCm38) |
D1918A |
probably damaging |
Het |
| Ahcy |
C |
A |
2: 155,064,828 (GRCm38) |
D182Y |
probably damaging |
Het |
| Aldob |
T |
G |
4: 49,542,844 (GRCm38) |
D110A |
probably damaging |
Het |
| Alkbh8 |
A |
T |
9: 3,344,602 (GRCm38) |
M53L |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,517,398 (GRCm38) |
R815G |
probably damaging |
Het |
| Atf4 |
T |
A |
15: 80,256,657 (GRCm38) |
W83R |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,923,111 (GRCm38) |
M587K |
possibly damaging |
Het |
| Cactin |
T |
A |
10: 81,325,734 (GRCm38) |
I700N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,725,079 (GRCm38) |
S95G |
probably benign |
Het |
| Cd1d1 |
C |
T |
3: 86,998,161 (GRCm38) |
S175N |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,101,566 (GRCm38) |
A217E |
possibly damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,333,634 (GRCm38) |
|
probably null |
Het |
| Cntnap5c |
G |
A |
17: 58,055,639 (GRCm38) |
C329Y |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,633,673 (GRCm38) |
G2391R |
probably damaging |
Het |
| Col5a3 |
T |
A |
9: 20,807,744 (GRCm38) |
D238V |
unknown |
Het |
| Cuedc1 |
T |
C |
11: 88,182,489 (GRCm38) |
V160A |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 32,945,090 (GRCm38) |
V342A |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,149,140 (GRCm38) |
D1338G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,917,242 (GRCm38) |
V433A |
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,617,644 (GRCm38) |
H179R |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,165,886 (GRCm38) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,934,680 (GRCm38) |
S2251P |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,990,624 (GRCm38) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,739,115 (GRCm38) |
V735M |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,089,612 (GRCm38) |
|
probably benign |
Het |
| Lingo4 |
C |
T |
3: 94,402,396 (GRCm38) |
R214C |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,927,889 (GRCm38) |
R2329H |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,015,993 (GRCm38) |
L342P |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 95,368,217 (GRCm38) |
S240P |
probably damaging |
Het |
| Ndufaf4 |
T |
A |
4: 24,901,747 (GRCm38) |
N95K |
probably benign |
Het |
| Nms |
C |
T |
1: 38,941,912 (GRCm38) |
P60S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 53,501,192 (GRCm38) |
Y77F |
probably damaging |
Het |
| Or2ak7 |
T |
G |
11: 58,683,876 (GRCm38) |
M1R |
probably null |
Het |
| Or51f5 |
G |
T |
7: 102,775,253 (GRCm38) |
C243F |
probably damaging |
Het |
| Or5d43 |
T |
A |
2: 88,274,845 (GRCm38) |
D68V |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,878,078 (GRCm38) |
M301V |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,990,149 (GRCm38) |
Y13N |
probably benign |
Het |
| Or9s27 |
T |
A |
1: 92,588,551 (GRCm38) |
S74T |
probably damaging |
Het |
| Picalm |
T |
C |
7: 90,182,246 (GRCm38) |
V429A |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,558,004 (GRCm38) |
I3056N |
probably damaging |
Het |
| Pomt1 |
G |
T |
2: 32,244,326 (GRCm38) |
M286I |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,369,519 (GRCm38) |
Y176F |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,652,485 (GRCm38) |
M192K |
probably benign |
Het |
| Psma1 |
C |
A |
7: 114,266,439 (GRCm38) |
A219S |
probably benign |
Het |
| Rad21l |
T |
G |
2: 151,668,469 (GRCm38) |
H22P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,479,941 (GRCm38) |
T4791A |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,821,626 (GRCm38) |
V1609A |
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,241,043 (GRCm38) |
S606T |
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,311,542 (GRCm38) |
R486S |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 23,856,784 (GRCm38) |
L331P |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,353,815 (GRCm38) |
V164D |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,337,053 (GRCm38) |
I173V |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 123,079,955 (GRCm38) |
T1121A |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,528,421 (GRCm38) |
D83G |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,211,644 (GRCm38) |
T70A |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,087,895 (GRCm38) |
I631V |
probably damaging |
Het |
| Tor2a |
C |
A |
2: 32,757,317 (GRCm38) |
H6Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,734,923 (GRCm38) |
N19993S |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,138,324 (GRCm38) |
E119G |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,814,669 (GRCm38) |
W69R |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,922,638 (GRCm38) |
K301E |
probably benign |
Het |
| Zswim8 |
T |
C |
14: 20,714,391 (GRCm38) |
S610P |
probably damaging |
Het |
|
| Other mutations in Aqr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Aqr
|
APN |
2 |
114,125,942 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL00694:Aqr
|
APN |
2 |
114,151,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02113:Aqr
|
APN |
2 |
114,120,027 (GRCm38) |
nonsense |
probably null |
|
|
IGL02297:Aqr
|
APN |
2 |
114,150,481 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02380:Aqr
|
APN |
2 |
114,109,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02410:Aqr
|
APN |
2 |
114,136,917 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02413:Aqr
|
APN |
2 |
114,118,780 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02474:Aqr
|
APN |
2 |
114,112,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02941:Aqr
|
APN |
2 |
114,113,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02981:Aqr
|
APN |
2 |
114,134,824 (GRCm38) |
splice site |
probably benign |
|
|
IGL03092:Aqr
|
APN |
2 |
114,158,943 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL03222:Aqr
|
APN |
2 |
114,121,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
capricorn
|
UTSW |
2 |
114,105,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Goat
|
UTSW |
2 |
114,157,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Pliades
|
UTSW |
2 |
114,132,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
sagittarius
|
UTSW |
2 |
114,149,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Zodiac
|
UTSW |
2 |
114,108,109 (GRCm38) |
missense |
probably damaging |
0.96 |
|
PIT4531001:Aqr
|
UTSW |
2 |
114,130,734 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0103:Aqr
|
UTSW |
2 |
114,149,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0103:Aqr
|
UTSW |
2 |
114,149,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0152:Aqr
|
UTSW |
2 |
114,159,010 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0352:Aqr
|
UTSW |
2 |
114,170,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0371:Aqr
|
UTSW |
2 |
114,157,604 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0374:Aqr
|
UTSW |
2 |
114,130,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Aqr
|
UTSW |
2 |
114,132,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0604:Aqr
|
UTSW |
2 |
114,130,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0685:Aqr
|
UTSW |
2 |
114,140,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1236:Aqr
|
UTSW |
2 |
114,116,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1434:Aqr
|
UTSW |
2 |
114,150,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1806:Aqr
|
UTSW |
2 |
114,161,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2154:Aqr
|
UTSW |
2 |
114,137,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2185:Aqr
|
UTSW |
2 |
114,130,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2377:Aqr
|
UTSW |
2 |
114,140,940 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R2862:Aqr
|
UTSW |
2 |
114,136,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3615:Aqr
|
UTSW |
2 |
114,136,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3616:Aqr
|
UTSW |
2 |
114,136,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3713:Aqr
|
UTSW |
2 |
114,118,669 (GRCm38) |
splice site |
probably benign |
|
|
R3715:Aqr
|
UTSW |
2 |
114,118,669 (GRCm38) |
splice site |
probably benign |
|
|
R4586:Aqr
|
UTSW |
2 |
114,112,577 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4663:Aqr
|
UTSW |
2 |
114,161,666 (GRCm38) |
nonsense |
probably null |
|
|
R4809:Aqr
|
UTSW |
2 |
114,175,214 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4887:Aqr
|
UTSW |
2 |
114,150,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Aqr
|
UTSW |
2 |
114,150,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4952:Aqr
|
UTSW |
2 |
114,109,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4974:Aqr
|
UTSW |
2 |
114,113,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5050:Aqr
|
UTSW |
2 |
114,170,025 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5050:Aqr
|
UTSW |
2 |
114,112,609 (GRCm38) |
nonsense |
probably null |
|
|
R5213:Aqr
|
UTSW |
2 |
114,113,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5263:Aqr
|
UTSW |
2 |
114,116,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5470:Aqr
|
UTSW |
2 |
114,157,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5488:Aqr
|
UTSW |
2 |
114,133,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5489:Aqr
|
UTSW |
2 |
114,133,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Aqr
|
UTSW |
2 |
114,148,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5570:Aqr
|
UTSW |
2 |
114,148,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5641:Aqr
|
UTSW |
2 |
114,149,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5685:Aqr
|
UTSW |
2 |
114,156,265 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5963:Aqr
|
UTSW |
2 |
114,126,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5992:Aqr
|
UTSW |
2 |
114,143,049 (GRCm38) |
nonsense |
probably null |
|
|
R6015:Aqr
|
UTSW |
2 |
114,175,165 (GRCm38) |
start codon destroyed |
probably null |
0.53 |
|
R6253:Aqr
|
UTSW |
2 |
114,156,277 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6264:Aqr
|
UTSW |
2 |
114,109,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6773:Aqr
|
UTSW |
2 |
114,148,996 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6877:Aqr
|
UTSW |
2 |
114,116,571 (GRCm38) |
nonsense |
probably null |
|
|
R7211:Aqr
|
UTSW |
2 |
114,134,723 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7232:Aqr
|
UTSW |
2 |
114,105,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7308:Aqr
|
UTSW |
2 |
114,104,062 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7396:Aqr
|
UTSW |
2 |
114,119,946 (GRCm38) |
nonsense |
probably null |
|
|
R7490:Aqr
|
UTSW |
2 |
114,158,868 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7526:Aqr
|
UTSW |
2 |
114,108,109 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7629:Aqr
|
UTSW |
2 |
114,114,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7828:Aqr
|
UTSW |
2 |
114,149,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8037:Aqr
|
UTSW |
2 |
114,161,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8166:Aqr
|
UTSW |
2 |
114,113,325 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8712:Aqr
|
UTSW |
2 |
114,118,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8904:Aqr
|
UTSW |
2 |
114,136,993 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9487:Aqr
|
UTSW |
2 |
114,104,047 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9527:Aqr
|
UTSW |
2 |
114,101,556 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9664:Aqr
|
UTSW |
2 |
114,140,915 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Aqr
|
UTSW |
2 |
114,109,991 (GRCm38) |
missense |
probably benign |
0.25 |
|
Z1176:Aqr
|
UTSW |
2 |
114,108,122 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation