Incidental Mutation 'R0557:Atp9b'
ID |
45685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp9b
|
Ensembl Gene |
ENSMUSG00000024566 |
Gene Name |
ATPase, class II, type 9B |
Synonyms |
IIb |
MMRRC Submission |
038749-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R0557 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80809137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
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 damaging
Transcript: ENSMUST00000091790
AA Change: V594A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089394 Gene: ENSMUSG00000024566 AA Change: V594A
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 |
noncoding transcript
Transcript: ENSMUST00000224283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225205
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225692
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225980
AA Change: V594A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226064
AA Change: V211A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
G |
A |
10: 78,903,519 (GRCm39) |
H266Y |
probably damaging |
Het |
Abi3bp |
C |
T |
16: 56,488,750 (GRCm39) |
R1294C |
probably damaging |
Het |
Acot3 |
T |
C |
12: 84,105,630 (GRCm39) |
Y366H |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,353,817 (GRCm39) |
V254A |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,979,308 (GRCm39) |
D197E |
probably benign |
Het |
Aldh1b1 |
A |
T |
4: 45,802,647 (GRCm39) |
T62S |
probably benign |
Het |
Alox12e |
T |
C |
11: 70,212,274 (GRCm39) |
R135G |
possibly damaging |
Het |
Amn1 |
T |
C |
6: 149,072,503 (GRCm39) |
Y78C |
possibly damaging |
Het |
Ankmy2 |
G |
A |
12: 36,237,765 (GRCm39) |
S288N |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,693,297 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
T |
C |
15: 83,187,386 (GRCm39) |
D491G |
probably damaging |
Het |
Arhgap15 |
T |
C |
2: 44,006,629 (GRCm39) |
S249P |
possibly damaging |
Het |
Cabin1 |
A |
G |
10: 75,562,751 (GRCm39) |
Y12H |
probably damaging |
Het |
Cdkn2aip |
T |
C |
8: 48,165,977 (GRCm39) |
T110A |
probably damaging |
Het |
Cemip2 |
C |
T |
19: 21,789,267 (GRCm39) |
A567V |
probably benign |
Het |
Chchd6 |
A |
G |
6: 89,551,569 (GRCm39) |
S31P |
probably damaging |
Het |
Chrna3 |
A |
G |
9: 54,923,149 (GRCm39) |
Y220H |
probably damaging |
Het |
Ctu1 |
A |
G |
7: 43,326,583 (GRCm39) |
D414G |
unknown |
Het |
Cxxc1 |
C |
T |
18: 74,351,845 (GRCm39) |
R241W |
possibly damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,406,398 (GRCm39) |
I18T |
unknown |
Het |
Dip2c |
A |
T |
13: 9,603,495 (GRCm39) |
I405F |
possibly damaging |
Het |
Disp3 |
A |
T |
4: 148,325,861 (GRCm39) |
M1299K |
possibly damaging |
Het |
Dnah9 |
T |
G |
11: 65,975,492 (GRCm39) |
H1519P |
probably damaging |
Het |
Ehd3 |
C |
A |
17: 74,136,928 (GRCm39) |
Q366K |
probably benign |
Het |
Exosc3 |
A |
T |
4: 45,316,957 (GRCm39) |
M232K |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,165,216 (GRCm39) |
|
probably null |
Het |
Fgfr2 |
A |
G |
7: 129,820,811 (GRCm39) |
V241A |
probably damaging |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Hars2 |
T |
C |
18: 36,924,130 (GRCm39) |
I489T |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,749,310 (GRCm39) |
I1945V |
probably benign |
Het |
Il33 |
A |
C |
19: 29,932,036 (GRCm39) |
N143T |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,321 (GRCm39) |
W313* |
probably null |
Het |
Insyn2a |
A |
G |
7: 134,520,434 (GRCm39) |
L32P |
probably damaging |
Het |
Isca1 |
G |
T |
13: 59,904,788 (GRCm39) |
Q91K |
possibly damaging |
Het |
Kcnh5 |
T |
A |
12: 75,161,323 (GRCm39) |
Y195F |
probably damaging |
Het |
Lama4 |
T |
G |
10: 38,964,393 (GRCm39) |
I1355S |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,574 (GRCm39) |
D470G |
probably benign |
Het |
Mak |
A |
G |
13: 41,193,135 (GRCm39) |
Y446H |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,300,990 (GRCm39) |
S1348N |
possibly damaging |
Het |
Mpzl3 |
A |
G |
9: 44,977,806 (GRCm39) |
Y138C |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,192,624 (GRCm39) |
L1501P |
possibly damaging |
Het |
Naa35 |
A |
G |
13: 59,775,778 (GRCm39) |
E552G |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,183,369 (GRCm39) |
L200* |
probably null |
Het |
Nrm |
T |
C |
17: 36,175,524 (GRCm39) |
V210A |
probably damaging |
Het |
Nt5e |
T |
A |
9: 88,248,519 (GRCm39) |
N405K |
probably damaging |
Het |
Or1j4 |
T |
A |
2: 36,740,760 (GRCm39) |
I234N |
possibly damaging |
Het |
Or1o11 |
T |
A |
17: 37,756,712 (GRCm39) |
I100N |
probably damaging |
Het |
Orc2 |
T |
C |
1: 58,508,846 (GRCm39) |
S434G |
probably damaging |
Het |
Plcb4 |
G |
A |
2: 135,796,269 (GRCm39) |
V388I |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,234 (GRCm39) |
D177G |
probably benign |
Het |
Prl8a2 |
A |
T |
13: 27,536,875 (GRCm39) |
R165* |
probably null |
Het |
Ptbp3 |
G |
A |
4: 59,517,684 (GRCm39) |
R66* |
probably null |
Het |
Pten |
A |
G |
19: 32,795,290 (GRCm39) |
T286A |
probably benign |
Het |
Rac2 |
C |
T |
15: 78,449,174 (GRCm39) |
V113M |
probably damaging |
Het |
Rai1 |
C |
T |
11: 60,081,321 (GRCm39) |
T1795I |
probably benign |
Het |
Ros1 |
T |
G |
10: 51,961,359 (GRCm39) |
K1792Q |
possibly damaging |
Het |
Sema6a |
A |
G |
18: 47,382,567 (GRCm39) |
V660A |
probably benign |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Slc26a5 |
A |
G |
5: 22,024,762 (GRCm39) |
S441P |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,294,163 (GRCm39) |
L462P |
probably damaging |
Het |
Spag5 |
T |
A |
11: 78,205,037 (GRCm39) |
S607R |
probably damaging |
Het |
Spata18 |
A |
T |
5: 73,809,013 (GRCm39) |
N29Y |
probably damaging |
Het |
Spata20 |
C |
T |
11: 94,376,048 (GRCm39) |
R22H |
probably benign |
Het |
Spsb2 |
A |
C |
6: 124,787,355 (GRCm39) |
Y263S |
probably damaging |
Het |
Sptbn4 |
C |
A |
7: 27,107,753 (GRCm39) |
E885* |
probably null |
Het |
Syne2 |
T |
C |
12: 75,976,075 (GRCm39) |
I1175T |
probably benign |
Het |
Tmem209 |
A |
C |
6: 30,501,913 (GRCm39) |
H253Q |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,702,468 (GRCm39) |
D788E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,353,848 (GRCm39) |
S1509P |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,584,173 (GRCm39) |
D2661E |
probably damaging |
Het |
Vars1 |
C |
A |
17: 35,223,960 (GRCm39) |
P264Q |
possibly damaging |
Het |
Vmn2r66 |
T |
G |
7: 84,643,972 (GRCm39) |
S813R |
probably damaging |
Het |
Wipf2 |
C |
A |
11: 98,782,915 (GRCm39) |
Q114K |
possibly damaging |
Het |
Wnt5b |
G |
T |
6: 119,410,779 (GRCm39) |
H220Q |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,695 (GRCm39) |
T2979A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,531,708 (GRCm39) |
V408A |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,808,556 (GRCm39) |
S2744P |
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 |
R0355:Atp9b
|
UTSW |
18 |
80,952,800 (GRCm39) |
intron |
probably benign |
|
R0366:Atp9b
|
UTSW |
18 |
80,805,317 (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'- ACTATGATGCCCATCCGCTTGC -3'
(R):5'- TTGGGACTCAGTCAGTACACATTGC -3'
Sequencing Primer
(F):5'- CTTGCTCTCGGAGGTGAAG -3'
(R):5'- TGCAGtaaacggtgtgtgtg -3'
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Posted On |
2013-06-11 |