Incidental Mutation 'R5992:Aqr'
| ID |
480866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqr
|
| Ensembl Gene |
ENSMUSG00000040383 |
| Gene Name |
aquarius |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5992 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113931642-114005788 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 113973530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 427
(Y427*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043160]
[ENSMUST00000102543]
|
| AlphaFold |
Q8CFQ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043160
AA Change: Y427*
|
| SMART Domains |
Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: Y427*
| 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: Y427*
|
| SMART Domains |
Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: Y427*
| 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: ENSMUST00000126701
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,819,549 (GRCm39) |
L188* |
probably null |
Het |
| Acod1 |
C |
T |
14: 103,292,471 (GRCm39) |
R332C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,839,194 (GRCm39) |
K852M |
probably damaging |
Het |
| Adm |
A |
T |
7: 110,226,903 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,263,837 (GRCm39) |
S286G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,753,300 (GRCm39) |
|
probably null |
Het |
| Arid1b |
C |
A |
17: 5,045,231 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,972,553 (GRCm39) |
R259* |
probably null |
Het |
| Cep290 |
C |
T |
10: 100,379,183 (GRCm39) |
A55V |
possibly damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Clcn2 |
T |
C |
16: 20,532,404 (GRCm39) |
E68G |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,473,732 (GRCm39) |
H699L |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,459,681 (GRCm39) |
Y446H |
probably damaging |
Het |
| Dcst1 |
T |
A |
3: 89,259,883 (GRCm39) |
E613V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,421,507 (GRCm39) |
C74R |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,418,496 (GRCm39) |
K128T |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,326,317 (GRCm39) |
S893R |
unknown |
Het |
| Dtl |
A |
T |
1: 191,300,684 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
T |
A |
13: 95,650,778 (GRCm39) |
S35C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,819,959 (GRCm39) |
Y2562F |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,044 (GRCm39) |
D42V |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm21190 |
T |
A |
5: 15,729,849 (GRCm39) |
E256D |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,346 (GRCm39) |
S66P |
probably damaging |
Het |
| Hal |
T |
G |
10: 93,326,778 (GRCm39) |
L138R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,284 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,504,618 (GRCm39) |
M2450K |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,845,234 (GRCm39) |
T94A |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,411,320 (GRCm39) |
V696A |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 19,432,289 (GRCm39) |
M1I |
probably null |
Het |
| Marchf7 |
C |
A |
2: 60,075,564 (GRCm39) |
N674K |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,300,776 (GRCm39) |
V34A |
probably benign |
Het |
| Mob3b |
G |
A |
4: 35,084,069 (GRCm39) |
S40L |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,063,987 (GRCm39) |
V386E |
probably damaging |
Het |
| Nfic |
C |
T |
10: 81,256,581 (GRCm39) |
A19T |
probably damaging |
Het |
| Nfs1 |
G |
A |
2: 155,976,373 (GRCm39) |
R174W |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,092,298 (GRCm39) |
S670R |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,935 (GRCm39) |
I754V |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,380,201 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
T |
A |
2: 89,237,223 (GRCm39) |
M67L |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,703 (GRCm39) |
T78S |
possibly damaging |
Het |
| Or51a6 |
G |
T |
7: 102,604,216 (GRCm39) |
N197K |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,502 (GRCm39) |
E524G |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,246,723 (GRCm39) |
R638* |
probably null |
Het |
| Pkmyt1 |
G |
C |
17: 23,954,300 (GRCm39) |
W360S |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,944,748 (GRCm39) |
|
probably null |
Het |
| Poldip3 |
A |
T |
15: 83,013,430 (GRCm39) |
N322K |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,478,695 (GRCm39) |
I419L |
probably benign |
Het |
| Prss36 |
A |
T |
7: 127,544,002 (GRCm39) |
V123E |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,703 (GRCm39) |
I46T |
probably damaging |
Het |
| Rac1 |
T |
C |
5: 143,492,753 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,220 (GRCm39) |
Y36C |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,218,926 (GRCm39) |
F951L |
unknown |
Het |
| Rps6ka5 |
G |
T |
12: 100,541,509 (GRCm39) |
P417T |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,767,062 (GRCm39) |
W2967R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,442,992 (GRCm39) |
S1679R |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,165,800 (GRCm39) |
W153G |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,373,726 (GRCm39) |
Y114C |
probably damaging |
Het |
| Son |
T |
C |
16: 91,455,792 (GRCm39) |
M1513T |
probably benign |
Het |
| Spag8 |
C |
T |
4: 43,651,534 (GRCm39) |
V447M |
probably benign |
Het |
| St3gal2 |
T |
A |
8: 111,696,185 (GRCm39) |
Y257N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,397,282 (GRCm39) |
D40E |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,851 (GRCm39) |
H158R |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,392 (GRCm39) |
V50L |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,746,994 (GRCm39) |
S1503P |
probably benign |
Het |
| Ttll4 |
T |
G |
1: 74,724,550 (GRCm39) |
S573R |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,249,747 (GRCm39) |
N841K |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,068 (GRCm39) |
C688S |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,266,369 (GRCm39) |
|
probably null |
Het |
| Zfp608 |
G |
A |
18: 55,032,320 (GRCm39) |
T540I |
probably benign |
Het |
| Zfp775 |
G |
A |
6: 48,596,750 (GRCm39) |
R208Q |
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 |
|
|
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 |
|
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'- CTACTGTATAGAGGAGACGTGTG -3'
(R):5'- TCCAGCTCGAGTTCATTTGG -3'
Sequencing Primer
(F):5'- ATAGAGGAGACGTGTGTGCGTG -3'
(R):5'- GATTACCCTGGTGTCACT -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation