Incidental Mutation 'IGL01637:Atp9b'
ID |
93032 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp9b
|
Ensembl Gene |
ENSMUSG00000024566 |
Gene Name |
ATPase, class II, type 9B |
Synonyms |
IIb |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL01637
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80799670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 823
(E823G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225235]
[ENSMUST00000225980]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091790
AA Change: E823G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000089394 Gene: ENSMUSG00000024566 AA Change: E823G
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: ENSMUST00000225092
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225218
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: E823G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,604,109 (GRCm39) |
I384N |
probably damaging |
Het |
Adsl |
G |
T |
15: 80,832,901 (GRCm39) |
Q51H |
probably null |
Het |
Apcdd1 |
A |
G |
18: 63,070,357 (GRCm39) |
E208G |
probably damaging |
Het |
Arrdc4 |
G |
A |
7: 68,394,580 (GRCm39) |
R155* |
probably null |
Het |
Bmp1 |
A |
G |
14: 70,729,901 (GRCm39) |
W468R |
probably damaging |
Het |
C6 |
A |
G |
15: 4,789,399 (GRCm39) |
I281M |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,824,078 (GRCm39) |
T1392A |
probably benign |
Het |
Dhx34 |
G |
T |
7: 15,939,398 (GRCm39) |
S665Y |
probably damaging |
Het |
Dock1 |
A |
T |
7: 134,739,542 (GRCm39) |
|
probably null |
Het |
Dpp7 |
T |
C |
2: 25,244,625 (GRCm39) |
N252S |
probably benign |
Het |
Dyrk2 |
A |
G |
10: 118,696,412 (GRCm39) |
V282A |
probably damaging |
Het |
Edrf1 |
T |
C |
7: 133,252,254 (GRCm39) |
L401P |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,439,724 (GRCm39) |
V150A |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
Gabrg1 |
T |
A |
5: 70,934,548 (GRCm39) |
T277S |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,394,823 (GRCm39) |
|
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,304,073 (GRCm39) |
N56S |
probably damaging |
Het |
Gfm2 |
T |
A |
13: 97,286,917 (GRCm39) |
V172E |
probably damaging |
Het |
Gm10419 |
T |
C |
5: 108,520,224 (GRCm39) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,534,906 (GRCm39) |
|
noncoding transcript |
Het |
Gstm3 |
T |
C |
3: 107,874,949 (GRCm39) |
E101G |
probably damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,413,856 (GRCm39) |
W2R |
possibly damaging |
Het |
Ighv13-1 |
A |
T |
12: 114,231,353 (GRCm39) |
|
probably benign |
Het |
Ighv7-1 |
T |
A |
12: 113,860,123 (GRCm39) |
I90F |
possibly damaging |
Het |
Itga2b |
A |
G |
11: 102,346,409 (GRCm39) |
L1009P |
probably damaging |
Het |
Kif1a |
A |
G |
1: 92,967,575 (GRCm39) |
V1112A |
possibly damaging |
Het |
Kif5a |
A |
T |
10: 127,081,237 (GRCm39) |
D232E |
possibly damaging |
Het |
Klb |
G |
A |
5: 65,533,022 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
G |
A |
10: 103,051,489 (GRCm39) |
A421V |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,058,845 (GRCm39) |
R721C |
probably damaging |
Het |
Mrpl48 |
G |
T |
7: 100,199,739 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
A |
5: 112,988,495 (GRCm39) |
R1030S |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,437,946 (GRCm39) |
H2101Q |
probably damaging |
Het |
Nlrp3 |
C |
A |
11: 59,440,204 (GRCm39) |
L594I |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,376 (GRCm39) |
T2013I |
probably damaging |
Het |
Or2ah1 |
A |
T |
2: 85,653,332 (GRCm39) |
T6S |
probably benign |
Het |
Or2y3 |
G |
A |
17: 38,392,994 (GRCm39) |
L292F |
possibly damaging |
Het |
Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
Or6c216 |
A |
G |
10: 129,678,479 (GRCm39) |
L144P |
probably benign |
Het |
Or7g27 |
T |
C |
9: 19,250,260 (GRCm39) |
F168S |
probably damaging |
Het |
Panx3 |
T |
C |
9: 37,575,352 (GRCm39) |
D170G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,590,048 (GRCm39) |
S783G |
unknown |
Het |
Pde3b |
T |
A |
7: 114,126,136 (GRCm39) |
L790* |
probably null |
Het |
Pik3r2 |
T |
C |
8: 71,224,992 (GRCm39) |
|
probably benign |
Het |
Rassf4 |
A |
G |
6: 116,618,651 (GRCm39) |
F211L |
probably damaging |
Het |
Rbl2 |
C |
T |
8: 91,833,066 (GRCm39) |
P666S |
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,935,437 (GRCm39) |
F979L |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,015,172 (GRCm39) |
D788E |
probably benign |
Het |
Serpina3b |
A |
G |
12: 104,099,216 (GRCm39) |
T244A |
probably benign |
Het |
Setd1b |
T |
C |
5: 123,286,576 (GRCm39) |
S541P |
unknown |
Het |
Slc12a4 |
T |
C |
8: 106,687,339 (GRCm39) |
D60G |
possibly damaging |
Het |
Stac2 |
T |
C |
11: 97,932,180 (GRCm39) |
E241G |
probably benign |
Het |
Tafa3 |
C |
T |
3: 104,680,395 (GRCm39) |
V75M |
probably damaging |
Het |
Tas2r115 |
A |
G |
6: 132,714,592 (GRCm39) |
Y120H |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,205,946 (GRCm39) |
F450I |
probably benign |
Het |
Txnl1 |
A |
T |
18: 63,807,262 (GRCm39) |
I198N |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,267,580 (GRCm39) |
M1049K |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,759 (GRCm39) |
E136G |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,241,066 (GRCm39) |
T3623I |
probably damaging |
Het |
Usp13 |
T |
A |
3: 32,973,213 (GRCm39) |
S797T |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,402,373 (GRCm39) |
T203S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,622,699 (GRCm39) |
I1718N |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,159,732 (GRCm39) |
H676R |
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 |
|
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 |
|
|
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 |
2013-12-09 |