Incidental Mutation 'R4809:Aqr'
ID |
370875 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqr
|
Ensembl Gene |
ENSMUSG00000040383 |
Gene Name |
aquarius |
Synonyms |
|
MMRRC Submission |
042428-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4809 (G1)
|
Quality Score |
170 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to C
at 114005695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
AlphaFold |
Q8CFQ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043160
|
SMART Domains |
Protein: ENSMUSP00000047157 Gene: ENSMUSG00000040383
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
|
SMART Domains |
Protein: ENSMUSP00000099602 Gene: ENSMUSG00000040383
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154317
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (96/100) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,384,588 (GRCm39) |
V459A |
probably benign |
Het |
Abca12 |
C |
T |
1: 71,318,015 (GRCm39) |
A1840T |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,039,771 (GRCm38) |
M1R |
probably null |
Het |
Abl1 |
T |
C |
2: 31,690,254 (GRCm39) |
L572P |
probably damaging |
Het |
Adamts2 |
C |
A |
11: 50,694,517 (GRCm39) |
S1101R |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,600,507 (GRCm39) |
W200* |
probably null |
Het |
AI661453 |
C |
A |
17: 47,778,112 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
Ankrd49 |
G |
A |
9: 14,692,510 (GRCm39) |
T218I |
possibly damaging |
Het |
Ano7 |
T |
C |
1: 93,322,288 (GRCm39) |
F410L |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,305,808 (GRCm39) |
F1271I |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,180,118 (GRCm39) |
S54P |
probably damaging |
Het |
Aunip |
C |
A |
4: 134,238,450 (GRCm39) |
D16E |
possibly damaging |
Het |
Btbd7 |
A |
G |
12: 102,760,003 (GRCm39) |
|
probably null |
Het |
Cabp4 |
T |
C |
19: 4,189,290 (GRCm39) |
H89R |
probably benign |
Het |
Ccni |
AAA |
AAACTAA |
5: 93,335,429 (GRCm39) |
|
probably benign |
Het |
Chfr |
C |
T |
5: 110,306,700 (GRCm39) |
H410Y |
probably damaging |
Het |
Churc1 |
C |
A |
12: 76,829,671 (GRCm39) |
L111M |
probably damaging |
Het |
Clasp1 |
C |
T |
1: 118,388,980 (GRCm39) |
T113I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,600,849 (GRCm39) |
Q745L |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,640,454 (GRCm39) |
L537P |
probably damaging |
Het |
Creb5 |
A |
T |
6: 53,587,411 (GRCm39) |
E47V |
probably null |
Het |
Csnk1d |
A |
T |
11: 120,854,668 (GRCm39) |
|
probably benign |
Het |
Cts6 |
A |
T |
13: 61,349,995 (GRCm39) |
W29R |
probably damaging |
Het |
Dbt |
T |
A |
3: 116,339,992 (GRCm39) |
I420N |
probably damaging |
Het |
Det1 |
C |
A |
7: 78,493,555 (GRCm39) |
D150Y |
probably damaging |
Het |
Dlk2 |
A |
G |
17: 46,609,940 (GRCm39) |
|
probably null |
Het |
Dnmt3a |
A |
T |
12: 3,950,352 (GRCm39) |
I639F |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,784,008 (GRCm39) |
Y1989N |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,599,678 (GRCm39) |
T765S |
possibly damaging |
Het |
Entrep2 |
G |
A |
7: 64,426,488 (GRCm39) |
T159I |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
Fbxw21 |
C |
T |
9: 108,972,458 (GRCm39) |
V395I |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,691,959 (GRCm39) |
|
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,683 (GRCm39) |
S153T |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,561,316 (GRCm39) |
F1064L |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gjd2 |
C |
T |
2: 113,842,022 (GRCm39) |
G152R |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,842,154 (GRCm39) |
I353T |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,342,262 (GRCm39) |
V145A |
possibly damaging |
Het |
Igkv4-73 |
G |
A |
6: 69,174,807 (GRCm39) |
R40W |
unknown |
Het |
Kif1c |
C |
T |
11: 70,617,183 (GRCm39) |
A839V |
probably benign |
Het |
Krt31 |
G |
A |
11: 99,940,748 (GRCm39) |
A125V |
possibly damaging |
Het |
Lamb1 |
A |
G |
12: 31,328,525 (GRCm39) |
Y163C |
probably damaging |
Het |
Mars1 |
G |
T |
10: 127,136,084 (GRCm39) |
T535K |
probably damaging |
Het |
Mdc1 |
T |
C |
17: 36,159,993 (GRCm39) |
|
probably null |
Het |
Micos10 |
C |
G |
4: 138,858,268 (GRCm39) |
W10S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,576,644 (GRCm39) |
H167Y |
probably benign |
Het |
Mrgprb1 |
C |
T |
7: 48,097,739 (GRCm39) |
V58I |
possibly damaging |
Het |
Ncoa7 |
T |
A |
10: 30,647,758 (GRCm39) |
E6V |
possibly damaging |
Het |
Nectin3 |
A |
C |
16: 46,268,523 (GRCm39) |
|
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,987 (GRCm39) |
K295E |
probably damaging |
Het |
Or4k44 |
C |
T |
2: 111,367,956 (GRCm39) |
C226Y |
probably benign |
Het |
Or52ab7 |
T |
A |
7: 102,977,730 (GRCm39) |
Y12* |
probably null |
Het |
Or8k38 |
T |
A |
2: 86,488,029 (GRCm39) |
M258L |
possibly damaging |
Het |
Pex16 |
T |
C |
2: 92,206,983 (GRCm39) |
S54P |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,254,080 (GRCm39) |
S636T |
possibly damaging |
Het |
Plin5 |
A |
G |
17: 56,423,855 (GRCm39) |
S27P |
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,661,522 (GRCm39) |
D1068E |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,399,036 (GRCm39) |
T1960A |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,298,800 (GRCm39) |
|
probably benign |
Het |
Rcc2 |
G |
A |
4: 140,444,353 (GRCm39) |
R348Q |
probably damaging |
Het |
Rhbdd3 |
C |
A |
11: 5,055,949 (GRCm39) |
A377D |
probably damaging |
Het |
Rpl7 |
T |
G |
1: 16,172,189 (GRCm39) |
|
probably benign |
Het |
Scn11a |
G |
T |
9: 119,648,936 (GRCm39) |
D42E |
probably benign |
Het |
Scube3 |
C |
T |
17: 28,384,147 (GRCm39) |
R549W |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,458,428 (GRCm39) |
M189K |
probably damaging |
Het |
Slc39a6 |
G |
A |
18: 24,718,531 (GRCm39) |
Q225* |
probably null |
Het |
Slc7a15 |
A |
T |
12: 8,589,002 (GRCm39) |
C182S |
probably benign |
Het |
Spata21 |
G |
A |
4: 140,824,431 (GRCm39) |
|
probably null |
Het |
Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,246,182 (GRCm39) |
D993G |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,379,928 (GRCm39) |
S747P |
probably benign |
Het |
Tmem86a |
C |
G |
7: 46,702,678 (GRCm39) |
S34R |
possibly damaging |
Het |
Top2b |
T |
A |
14: 16,383,125 (GRCm38) |
S38T |
probably benign |
Het |
Trim33 |
A |
T |
3: 103,236,572 (GRCm39) |
T561S |
possibly damaging |
Het |
Ttc39a |
C |
T |
4: 109,273,218 (GRCm39) |
Q25* |
probably null |
Het |
Urb1 |
A |
G |
16: 90,556,730 (GRCm39) |
I1816T |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,270,873 (GRCm39) |
|
probably null |
Het |
Usp36 |
A |
C |
11: 118,153,896 (GRCm39) |
L840R |
probably damaging |
Het |
Usp50 |
C |
A |
2: 126,619,773 (GRCm39) |
|
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,837,230 (GRCm39) |
V193A |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,866 (GRCm39) |
H182Q |
probably benign |
Het |
Vmn2r124 |
A |
T |
17: 18,294,007 (GRCm39) |
Y698F |
probably benign |
Het |
Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
Zfp808 |
G |
T |
13: 62,319,106 (GRCm39) |
E112* |
probably null |
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 |
|
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'- GCAACTTGCACGTACACAAG -3'
(R):5'- AAAGGCAGCCTACTTTCTAGC -3'
Sequencing Primer
(F):5'- AATCCCAATCCCGGGCTTTAGG -3'
(R):5'- AGGCAGCCTACTTTCTAGCTCAAG -3'
|
Posted On |
2016-02-04 |