Incidental Mutation 'R0056:Atp9b'
| ID |
18424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
038350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0056 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80809018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 634
(S634P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153157
(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
AA Change: S634P
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: S634P
| 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: S634P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Meta Mutation Damage Score |
0.9130 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.7%
- 20x: 65.9%
|
| Validation Efficiency |
89% (66/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,540 (GRCm39) |
C561* |
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,282,502 (GRCm39) |
S1061P |
possibly damaging |
Het |
| Bche |
A |
T |
3: 73,608,654 (GRCm39) |
N257K |
possibly damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,190 (GRCm39) |
D449E |
probably benign |
Het |
| C630050I24Rik |
G |
T |
8: 107,846,026 (GRCm39) |
V59F |
unknown |
Het |
| Camkk2 |
C |
T |
5: 122,880,261 (GRCm39) |
E452K |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,118 (GRCm39) |
Y278C |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,660,165 (GRCm39) |
H375R |
possibly damaging |
Het |
| Entpd7 |
T |
A |
19: 43,713,733 (GRCm39) |
V364E |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,392 (GRCm39) |
D313V |
probably damaging |
Het |
| Etv6 |
G |
T |
6: 134,225,497 (GRCm39) |
E154* |
probably null |
Het |
| Fshr |
T |
G |
17: 89,295,885 (GRCm39) |
H274P |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,388,867 (GRCm39) |
N360D |
probably benign |
Het |
| Gdf11 |
C |
T |
10: 128,722,294 (GRCm39) |
R187H |
probably benign |
Het |
| Gpihbp1 |
T |
A |
15: 75,468,982 (GRCm39) |
I52N |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,923,934 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
C |
5: 34,983,422 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,014 (GRCm39) |
Q324R |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,895,185 (GRCm39) |
L427P |
probably damaging |
Het |
| Klk7 |
T |
C |
7: 43,461,434 (GRCm39) |
L17P |
possibly damaging |
Het |
| Klrd1 |
G |
A |
6: 129,570,738 (GRCm39) |
V50I |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,899 (GRCm39) |
|
probably benign |
Het |
| Lamtor3 |
T |
A |
3: 137,632,711 (GRCm39) |
|
probably benign |
Het |
| Lyplal1 |
G |
A |
1: 185,820,763 (GRCm39) |
T228I |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,296,098 (GRCm39) |
Y467H |
possibly damaging |
Het |
| Marchf6 |
T |
C |
15: 31,467,880 (GRCm39) |
T776A |
possibly damaging |
Het |
| Mogat1 |
T |
G |
1: 78,500,407 (GRCm39) |
M157R |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,733 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,468,273 (GRCm39) |
T356I |
probably damaging |
Het |
| Ncoa2 |
C |
A |
1: 117,516,497 (GRCm38) |
|
probably null |
Het |
| Nobox |
A |
G |
6: 43,281,853 (GRCm39) |
C407R |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,476,924 (GRCm39) |
|
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,329 (GRCm39) |
S187P |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,730,570 (GRCm39) |
Y590C |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,284,658 (GRCm39) |
V1070E |
unknown |
Het |
| Pglyrp3 |
G |
T |
3: 91,933,111 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,363,063 (GRCm39) |
F189S |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,482,382 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,924 (GRCm39) |
T3047S |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,491,550 (GRCm39) |
W847R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,475,043 (GRCm39) |
Y454H |
possibly damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,050 (GRCm39) |
N923K |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,055 (GRCm39) |
H2534R |
probably benign |
Het |
| Ticam2 |
G |
T |
18: 46,693,401 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Tnfaip3 |
A |
T |
10: 18,881,041 (GRCm39) |
V342E |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,496 (GRCm39) |
I415M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,334 (GRCm39) |
D1062G |
probably damaging |
Het |
| Wdr59 |
C |
T |
8: 112,207,239 (GRCm39) |
|
probably benign |
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 |
|
R0355:Atp9b
|
UTSW |
18 |
80,952,800 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
|
| Posted On |
2013-03-25 |
Incidental Mutation