Incidental Mutation 'R0355:Atp9b'
ID |
29804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp9b
|
Ensembl Gene |
ENSMUSG00000024566 |
Gene Name |
ATPase, class II, type 9B |
Synonyms |
IIb |
MMRRC Submission |
038561-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R0355 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 80952800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091790
|
SMART Domains |
Protein: ENSMUSP00000089394 Gene: ENSMUSG00000024566
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
39 |
N/A |
INTRINSIC |
Pfam:PhoLip_ATPase_N
|
110 |
181 |
5.3e-21 |
PFAM |
Pfam:E1-E2_ATPase
|
186 |
444 |
9.1e-15 |
PFAM |
Pfam:Hydrolase
|
463 |
885 |
2.7e-13 |
PFAM |
Pfam:HAD
|
464 |
882 |
4.8e-14 |
PFAM |
Pfam:Cation_ATPase
|
563 |
664 |
3.7e-7 |
PFAM |
Pfam:PhoLip_ATPase_C
|
899 |
1128 |
1.1e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224709
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225205
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225345
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.2%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
G |
7: 120,023,021 (GRCm39) |
I52M |
possibly damaging |
Het |
Agbl5 |
G |
T |
5: 31,049,335 (GRCm39) |
|
probably null |
Het |
Akt2 |
T |
C |
7: 27,336,334 (GRCm39) |
|
probably benign |
Het |
Arl6ip5 |
T |
A |
6: 97,209,378 (GRCm39) |
S138T |
probably damaging |
Het |
Ccdc171 |
A |
T |
4: 83,553,919 (GRCm39) |
N422Y |
probably damaging |
Het |
Ccr5 |
C |
T |
9: 123,924,951 (GRCm39) |
P185S |
possibly damaging |
Het |
Cep63 |
G |
T |
9: 102,500,759 (GRCm39) |
Q38K |
probably benign |
Het |
Cgn |
T |
C |
3: 94,682,242 (GRCm39) |
S446G |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,952,206 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,968,330 (GRCm39) |
Q3099L |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,708,279 (GRCm39) |
T479I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,535,067 (GRCm39) |
|
probably null |
Het |
Dlg1 |
T |
A |
16: 31,502,992 (GRCm39) |
C66* |
probably null |
Het |
Dnah12 |
T |
A |
14: 26,427,272 (GRCm39) |
|
probably null |
Het |
Dnajb9 |
T |
A |
12: 44,253,987 (GRCm39) |
H140L |
probably damaging |
Het |
Dnase1 |
G |
A |
16: 3,857,413 (GRCm39) |
V237M |
probably damaging |
Het |
Dscam |
C |
A |
16: 96,456,105 (GRCm39) |
E1274D |
probably benign |
Het |
Epb41 |
T |
C |
4: 131,727,572 (GRCm39) |
H243R |
probably damaging |
Het |
Evc |
T |
A |
5: 37,473,656 (GRCm39) |
|
probably benign |
Het |
Fcgrt |
T |
A |
7: 44,752,493 (GRCm39) |
M1L |
unknown |
Het |
Flii |
T |
C |
11: 60,610,506 (GRCm39) |
|
probably null |
Het |
Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
Gm10447 |
T |
C |
11: 53,347,257 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
A |
G |
3: 36,101,054 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
A |
T |
13: 50,055,975 (GRCm39) |
|
noncoding transcript |
Het |
Gpr137 |
G |
C |
19: 6,916,491 (GRCm39) |
D253E |
probably damaging |
Het |
Grid2ip |
A |
T |
5: 143,343,652 (GRCm39) |
D116V |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,151,554 (GRCm39) |
|
probably benign |
Het |
Havcr1 |
A |
G |
11: 46,647,051 (GRCm39) |
T162A |
possibly damaging |
Het |
Hspa1l |
A |
T |
17: 35,196,386 (GRCm39) |
T142S |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,267,409 (GRCm39) |
Y602* |
probably null |
Het |
Il18 |
T |
A |
9: 50,490,575 (GRCm39) |
|
probably benign |
Het |
Ilf3 |
T |
C |
9: 21,309,266 (GRCm39) |
V474A |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,476,664 (GRCm39) |
Y771C |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,125,575 (GRCm39) |
T542A |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,868 (GRCm39) |
Y714H |
probably benign |
Het |
Itgbl1 |
T |
A |
14: 124,077,997 (GRCm39) |
C162* |
probably null |
Het |
Kcp |
T |
C |
6: 29,496,926 (GRCm39) |
H561R |
possibly damaging |
Het |
Krt23 |
G |
T |
11: 99,376,613 (GRCm39) |
T181N |
probably benign |
Het |
Lrrc40 |
A |
T |
3: 157,746,108 (GRCm39) |
D61V |
probably damaging |
Het |
Lypd4 |
T |
A |
7: 24,564,691 (GRCm39) |
H149L |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,473,058 (GRCm39) |
F953L |
probably damaging |
Het |
Mctp1 |
C |
T |
13: 76,972,982 (GRCm39) |
P405S |
probably damaging |
Het |
Mfsd2a |
G |
A |
4: 122,845,632 (GRCm39) |
T173I |
possibly damaging |
Het |
Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
Nipsnap1 |
G |
A |
11: 4,839,957 (GRCm39) |
G226E |
probably damaging |
Het |
Nudt15 |
T |
C |
14: 73,760,824 (GRCm39) |
Y89C |
probably damaging |
Het |
Or10g7 |
T |
A |
9: 39,905,459 (GRCm39) |
S118T |
possibly damaging |
Het |
Or10h28 |
T |
A |
17: 33,488,109 (GRCm39) |
M137K |
probably damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,808 (GRCm39) |
M68K |
probably benign |
Het |
Or7a37 |
T |
G |
10: 78,806,267 (GRCm39) |
S261R |
probably damaging |
Het |
Phf24 |
A |
C |
4: 42,933,891 (GRCm39) |
E91A |
probably damaging |
Het |
Plbd1 |
T |
A |
6: 136,618,165 (GRCm39) |
N17I |
possibly damaging |
Het |
Por |
C |
T |
5: 135,761,438 (GRCm39) |
S308L |
probably benign |
Het |
Prmt8 |
T |
A |
6: 127,688,837 (GRCm39) |
K178* |
probably null |
Het |
Rev3l |
A |
G |
10: 39,693,282 (GRCm39) |
N454S |
probably damaging |
Het |
Rps6ka2 |
T |
C |
17: 7,539,009 (GRCm39) |
V309A |
probably benign |
Het |
Slc15a5 |
A |
G |
6: 137,995,112 (GRCm39) |
|
probably benign |
Het |
Slc30a6 |
G |
A |
17: 74,730,198 (GRCm39) |
V363I |
probably benign |
Het |
Snf8 |
G |
A |
11: 95,930,125 (GRCm39) |
M42I |
probably benign |
Het |
Stom |
T |
C |
2: 35,215,371 (GRCm39) |
I65V |
probably benign |
Het |
Tacr3 |
C |
T |
3: 134,637,989 (GRCm39) |
T382I |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,682,010 (GRCm39) |
V2540A |
probably damaging |
Het |
Trabd |
A |
G |
15: 88,969,816 (GRCm39) |
T314A |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,025,486 (GRCm39) |
|
probably null |
Het |
Ube4a |
T |
C |
9: 44,856,099 (GRCm39) |
|
probably benign |
Het |
Unc80 |
A |
G |
1: 66,589,015 (GRCm39) |
H1060R |
possibly damaging |
Het |
Virma |
A |
T |
4: 11,528,626 (GRCm39) |
K1288* |
probably null |
Het |
Vmn2r100 |
A |
C |
17: 19,751,582 (GRCm39) |
I542L |
probably benign |
Het |
Vwde |
T |
C |
6: 13,187,806 (GRCm39) |
|
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,245,018 (GRCm39) |
I797T |
possibly damaging |
Het |
Zfp74 |
C |
T |
7: 29,653,466 (GRCm39) |
|
probably benign |
Het |
Zkscan7 |
T |
A |
9: 122,717,872 (GRCm39) |
L89Q |
probably damaging |
Het |
|
Other mutations in Atp9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Atp9b
|
APN |
18 |
80,961,103 (GRCm39) |
intron |
probably benign |
|
IGL00769:Atp9b
|
APN |
18 |
80,956,068 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00851:Atp9b
|
APN |
18 |
80,809,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01529:Atp9b
|
APN |
18 |
80,887,826 (GRCm39) |
intron |
probably benign |
|
IGL01637:Atp9b
|
APN |
18 |
80,799,670 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01973:Atp9b
|
APN |
18 |
80,801,518 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02082:Atp9b
|
APN |
18 |
80,935,145 (GRCm39) |
intron |
probably benign |
|
IGL02560:Atp9b
|
APN |
18 |
80,805,413 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02981:Atp9b
|
APN |
18 |
80,797,504 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03151:Atp9b
|
APN |
18 |
80,820,065 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03304:Atp9b
|
APN |
18 |
80,961,092 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03348:Atp9b
|
APN |
18 |
80,879,637 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0056:Atp9b
|
UTSW |
18 |
80,809,018 (GRCm39) |
missense |
probably damaging |
0.99 |
R0366:Atp9b
|
UTSW |
18 |
80,805,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Atp9b
|
UTSW |
18 |
80,809,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Atp9b
|
UTSW |
18 |
80,797,171 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1099:Atp9b
|
UTSW |
18 |
80,901,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1126:Atp9b
|
UTSW |
18 |
80,822,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Atp9b
|
UTSW |
18 |
80,822,122 (GRCm39) |
missense |
probably benign |
0.02 |
R1499:Atp9b
|
UTSW |
18 |
80,805,353 (GRCm39) |
missense |
probably damaging |
0.99 |
R1764:Atp9b
|
UTSW |
18 |
80,952,806 (GRCm39) |
critical splice donor site |
probably null |
|
R1780:Atp9b
|
UTSW |
18 |
80,820,112 (GRCm39) |
nonsense |
probably null |
|
R1782:Atp9b
|
UTSW |
18 |
80,809,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Atp9b
|
UTSW |
18 |
80,822,098 (GRCm39) |
missense |
probably benign |
0.00 |
R1859:Atp9b
|
UTSW |
18 |
80,793,135 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1953:Atp9b
|
UTSW |
18 |
80,797,522 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2140:Atp9b
|
UTSW |
18 |
80,779,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2191:Atp9b
|
UTSW |
18 |
80,796,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Atp9b
|
UTSW |
18 |
80,793,044 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4605:Atp9b
|
UTSW |
18 |
80,796,364 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4654:Atp9b
|
UTSW |
18 |
80,935,093 (GRCm39) |
missense |
probably benign |
0.00 |
R4767:Atp9b
|
UTSW |
18 |
80,796,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Atp9b
|
UTSW |
18 |
80,808,984 (GRCm39) |
critical splice donor site |
probably null |
|
R4936:Atp9b
|
UTSW |
18 |
80,779,308 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5096:Atp9b
|
UTSW |
18 |
80,805,399 (GRCm39) |
missense |
probably benign |
0.39 |
R5279:Atp9b
|
UTSW |
18 |
80,956,073 (GRCm39) |
missense |
probably damaging |
0.98 |
R5394:Atp9b
|
UTSW |
18 |
80,820,052 (GRCm39) |
missense |
probably benign |
0.16 |
R5774:Atp9b
|
UTSW |
18 |
80,977,147 (GRCm39) |
missense |
probably damaging |
0.96 |
R5877:Atp9b
|
UTSW |
18 |
80,796,004 (GRCm39) |
missense |
probably benign |
|
R6080:Atp9b
|
UTSW |
18 |
80,782,023 (GRCm39) |
missense |
probably benign |
0.03 |
R6170:Atp9b
|
UTSW |
18 |
80,920,562 (GRCm39) |
missense |
probably benign |
0.16 |
R6250:Atp9b
|
UTSW |
18 |
80,799,736 (GRCm39) |
missense |
probably benign |
0.01 |
R6340:Atp9b
|
UTSW |
18 |
80,822,115 (GRCm39) |
missense |
probably benign |
0.38 |
R6498:Atp9b
|
UTSW |
18 |
80,820,230 (GRCm39) |
missense |
probably benign |
0.03 |
R6620:Atp9b
|
UTSW |
18 |
80,851,902 (GRCm39) |
nonsense |
probably null |
|
R6632:Atp9b
|
UTSW |
18 |
80,851,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R6665:Atp9b
|
UTSW |
18 |
80,960,950 (GRCm39) |
missense |
probably benign |
0.26 |
R6821:Atp9b
|
UTSW |
18 |
80,890,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6927:Atp9b
|
UTSW |
18 |
80,935,072 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6977:Atp9b
|
UTSW |
18 |
80,796,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R7133:Atp9b
|
UTSW |
18 |
80,952,871 (GRCm39) |
missense |
|
|
R7188:Atp9b
|
UTSW |
18 |
80,961,041 (GRCm39) |
missense |
|
|
R7396:Atp9b
|
UTSW |
18 |
80,780,057 (GRCm39) |
missense |
|
|
R7432:Atp9b
|
UTSW |
18 |
80,809,056 (GRCm39) |
missense |
|
|
R7457:Atp9b
|
UTSW |
18 |
80,960,833 (GRCm39) |
splice site |
probably null |
|
R7877:Atp9b
|
UTSW |
18 |
80,890,412 (GRCm39) |
missense |
|
|
R8072:Atp9b
|
UTSW |
18 |
80,808,276 (GRCm39) |
missense |
|
|
R8167:Atp9b
|
UTSW |
18 |
80,890,398 (GRCm39) |
missense |
|
|
R8420:Atp9b
|
UTSW |
18 |
80,887,806 (GRCm39) |
missense |
|
|
R8700:Atp9b
|
UTSW |
18 |
80,796,361 (GRCm39) |
missense |
|
|
R8830:Atp9b
|
UTSW |
18 |
80,809,015 (GRCm39) |
missense |
|
|
R8884:Atp9b
|
UTSW |
18 |
80,838,562 (GRCm39) |
missense |
|
|
R9172:Atp9b
|
UTSW |
18 |
80,960,993 (GRCm39) |
nonsense |
probably null |
|
R9463:Atp9b
|
UTSW |
18 |
80,809,051 (GRCm39) |
missense |
|
|
R9735:Atp9b
|
UTSW |
18 |
80,838,629 (GRCm39) |
missense |
|
|
Z1176:Atp9b
|
UTSW |
18 |
80,809,080 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GGACTTGGGAGTTAAGTCACTAAACTCG -3'
(R):5'- TGTAAAGCTCAGTGTCTGTGCCAAAA -3'
Sequencing Primer
(F):5'- AGTCACTAAACTCGGCATGTTC -3'
(R):5'- acacacattcacacacacac -3'
|
Posted On |
2013-04-24 |