Incidental Mutation 'R7188:Atp9b'
ID |
559460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp9b
|
Ensembl Gene |
ENSMUSG00000024566 |
Gene Name |
ATPase, class II, type 9B |
Synonyms |
IIb |
MMRRC Submission |
045272-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7188 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80961041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 57
(S57P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000089394 Gene: ENSMUSG00000024566 AA Change: S57P
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
AA Change: S57P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
AA Change: S57P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: S57P
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,554,600 (GRCm39) |
Y118C |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,150,781 (GRCm39) |
|
probably null |
Het |
Acox2 |
T |
A |
14: 8,252,996 (GRCm38) |
I236L |
possibly damaging |
Het |
Adamts12 |
A |
T |
15: 11,336,411 (GRCm39) |
K1499* |
probably null |
Het |
Ankrd24 |
G |
T |
10: 81,472,224 (GRCm39) |
E20* |
probably null |
Het |
Arsa |
A |
T |
15: 89,359,830 (GRCm39) |
Y32* |
probably null |
Het |
Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
Bace1 |
A |
G |
9: 45,767,393 (GRCm39) |
D192G |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,004,162 (GRCm39) |
T1624S |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,615,744 (GRCm39) |
V129A |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,811,790 (GRCm39) |
S1309G |
probably benign |
Het |
Cd177 |
G |
T |
7: 24,456,072 (GRCm39) |
T232K |
probably damaging |
Het |
Chil4 |
T |
A |
3: 106,111,475 (GRCm39) |
D213V |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,182,546 (GRCm39) |
I3538N |
probably damaging |
Het |
Cyp26a1 |
T |
A |
19: 37,687,753 (GRCm39) |
M287K |
possibly damaging |
Het |
Dcaf5 |
T |
C |
12: 80,446,732 (GRCm39) |
D129G |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,536,370 (GRCm39) |
K2095N |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,292,701 (GRCm39) |
S106L |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,189,675 (GRCm39) |
E1499K |
possibly damaging |
Het |
Dus4l |
A |
G |
12: 31,696,714 (GRCm39) |
F88L |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,166,830 (GRCm39) |
D54E |
probably benign |
Het |
Fign |
T |
A |
2: 63,809,950 (GRCm39) |
H440L |
possibly damaging |
Het |
Gabpa |
A |
G |
16: 84,643,174 (GRCm39) |
D157G |
probably damaging |
Het |
Gapdh |
T |
A |
6: 125,142,403 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
G |
T |
5: 105,164,081 (GRCm39) |
R406S |
probably benign |
Het |
Gm21775 |
A |
G |
Y: 10,553,894 (GRCm39) |
R148G |
possibly damaging |
Het |
Gm28363 |
G |
A |
1: 117,626,579 (GRCm39) |
V6I |
unknown |
Het |
Gmps |
A |
G |
3: 63,918,982 (GRCm39) |
D522G |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,842,687 (GRCm39) |
S531P |
probably damaging |
Het |
Hars2 |
G |
T |
18: 36,923,614 (GRCm39) |
E468D |
probably benign |
Het |
Jph4 |
C |
A |
14: 55,352,664 (GRCm39) |
R23L |
probably damaging |
Het |
Kctd12 |
T |
A |
14: 103,219,230 (GRCm39) |
Y216F |
probably benign |
Het |
L3mbtl1 |
G |
A |
2: 162,791,460 (GRCm39) |
|
probably null |
Het |
Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,926,675 (GRCm39) |
S3494T |
possibly damaging |
Het |
Mybpc2 |
A |
G |
7: 44,155,617 (GRCm39) |
S879P |
probably benign |
Het |
Ncaph |
C |
T |
2: 126,964,034 (GRCm39) |
V304M |
probably benign |
Het |
Noto |
A |
T |
6: 85,405,047 (GRCm39) |
I229F |
possibly damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,597,731 (GRCm39) |
M170V |
unknown |
Het |
Or4c29 |
T |
C |
2: 88,740,203 (GRCm39) |
D178G |
probably damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,695 (GRCm39) |
K234* |
probably null |
Het |
Pald1 |
A |
T |
10: 61,182,845 (GRCm39) |
V368E |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,678,071 (GRCm39) |
M217K |
probably damaging |
Het |
Pira1 |
A |
T |
7: 3,741,828 (GRCm39) |
V184E |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,259,366 (GRCm39) |
A1323E |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,719,190 (GRCm39) |
S575G |
probably benign |
Het |
Prok1 |
T |
C |
3: 107,146,941 (GRCm39) |
I9V |
probably benign |
Het |
Ptprc |
A |
T |
1: 137,998,918 (GRCm39) |
V905D |
probably damaging |
Het |
Rbm25 |
G |
T |
12: 83,710,772 (GRCm39) |
G295V |
unknown |
Het |
Rreb1 |
T |
C |
13: 38,100,544 (GRCm39) |
M225T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,858,989 (GRCm39) |
K55E |
probably damaging |
Het |
Saxo4 |
T |
A |
19: 10,459,702 (GRCm39) |
M2L |
probably benign |
Het |
Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
Setx |
C |
A |
2: 29,038,184 (GRCm39) |
D1556E |
probably benign |
Het |
Sft2d1 |
C |
T |
17: 8,542,164 (GRCm39) |
T136I |
possibly damaging |
Het |
Sirt5 |
C |
T |
13: 43,525,380 (GRCm39) |
A63V |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,947,504 (GRCm39) |
T409A |
possibly damaging |
Het |
Slc12a6 |
T |
C |
2: 112,164,760 (GRCm39) |
M153T |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 24,006,348 (GRCm39) |
Y458C |
probably damaging |
Het |
Slc36a2 |
A |
G |
11: 55,053,483 (GRCm39) |
V385A |
possibly damaging |
Het |
St6galnac5 |
A |
T |
3: 152,552,131 (GRCm39) |
H145Q |
probably damaging |
Het |
Tal1 |
T |
A |
4: 114,925,610 (GRCm39) |
N226K |
probably damaging |
Het |
Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
Usp6nl |
T |
C |
2: 6,445,330 (GRCm39) |
S436P |
probably benign |
Het |
Utp3 |
A |
G |
5: 88,702,621 (GRCm39) |
E50G |
probably benign |
Het |
Zfp12 |
A |
T |
5: 143,225,749 (GRCm39) |
Q19L |
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 |
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 |
|
|
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'- TCCTTAGTCTTCATACCAACATAACAG -3'
(R):5'- TGCCTCAGTTGAAGGCAGC -3'
Sequencing Primer
(F):5'- CCTAACACCTAAGCTAGCTGC -3'
(R):5'- GGGCTTTTGAAACCTCCAAG -3'
|
Posted On |
2019-06-26 |