Incidental Mutation 'R8700:Atp9b'
| ID |
669029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
068554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8700 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80796361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 894
(E894G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225235]
[ENSMUST00000225980]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: E894G
| 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: ENSMUST00000225092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225980
AA Change: E894G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
T |
A |
11: 50,833,344 (GRCm39) |
D86V |
unknown |
Het |
| Abtb2 |
C |
A |
2: 103,397,289 (GRCm39) |
T73K |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,157 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
| Ano7 |
T |
G |
1: 93,316,329 (GRCm39) |
I204S |
probably damaging |
Het |
| Arhgef39 |
T |
A |
4: 43,496,715 (GRCm39) |
Q333L |
probably benign |
Het |
| Art5 |
T |
C |
7: 101,748,862 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
T |
C |
8: 41,813,312 (GRCm39) |
T34A |
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,184,747 (GRCm39) |
M126K |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,258,654 (GRCm39) |
D580G |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,994,330 (GRCm39) |
K74N |
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,571,348 (GRCm39) |
|
probably null |
Het |
| Cep164 |
T |
C |
9: 45,686,667 (GRCm39) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,833,892 (GRCm39) |
N1215K |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,487 (GRCm39) |
Y247H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,506,422 (GRCm39) |
Y714C |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,803,180 (GRCm39) |
K77N |
probably damaging |
Het |
| Dhx35 |
T |
A |
2: 158,682,552 (GRCm39) |
M495K |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,340 (GRCm39) |
C357* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,052,873 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,535,088 (GRCm39) |
D2724A |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,443,508 (GRCm39) |
D53E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,249,461 (GRCm39) |
I431N |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,488 (GRCm39) |
I459T |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,097,236 (GRCm39) |
I29F |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,720,171 (GRCm39) |
G87R |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,412 (GRCm39) |
S892G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,429,042 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,307,436 (GRCm39) |
N106S |
|
Het |
| Myo16 |
T |
C |
8: 10,463,172 (GRCm39) |
S580P |
unknown |
Het |
| Neo1 |
A |
G |
9: 58,825,913 (GRCm39) |
S672P |
probably benign |
Het |
| Nxph3 |
A |
T |
11: 95,401,706 (GRCm39) |
V236E |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,429 (GRCm39) |
P191T |
probably benign |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,852,996 (GRCm39) |
L247V |
unknown |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,652 (GRCm39) |
V586A |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pja2 |
C |
T |
17: 64,599,949 (GRCm39) |
D512N |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,345,602 (GRCm39) |
T875A |
possibly damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,474,001 (GRCm39) |
C332F |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,701 (GRCm39) |
H375L |
possibly damaging |
Het |
| Psg18 |
A |
T |
7: 18,087,550 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptprh |
A |
G |
7: 4,567,190 (GRCm39) |
S561P |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,498,230 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,158,422 (GRCm39) |
N61I |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,654,888 (GRCm39) |
Y318C |
probably damaging |
Het |
| Shc1 |
A |
G |
3: 89,334,740 (GRCm39) |
D533G |
possibly damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,476,419 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,097 (GRCm39) |
E126G |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,859 (GRCm39) |
I1717N |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,848,521 (GRCm39) |
A413S |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,802 (GRCm39) |
R56S |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,137 (GRCm39) |
I105T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,479,679 (GRCm39) |
I1742V |
probably benign |
Het |
| Vmn1r46 |
C |
T |
6: 89,953,325 (GRCm39) |
T58I |
probably benign |
Het |
| Vmn2r81 |
G |
T |
10: 79,129,517 (GRCm39) |
V803F |
probably damaging |
Het |
| Zfp365 |
T |
C |
10: 67,745,535 (GRCm39) |
K81R |
possibly damaging |
Het |
| Zfp974 |
G |
T |
7: 27,609,472 (GRCm39) |
T751K |
possibly damaging |
Het |
| Zfpl1 |
T |
C |
19: 6,132,464 (GRCm39) |
N149S |
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 |
|
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 |
|
|
|
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'- TGGTGGGCATTGATACCTGC -3'
(R):5'- TGCTGCTAATAGATCAAAGCCC -3'
Sequencing Primer
(F):5'- CCTGCATGGTGGAGATGATGAG -3'
(R):5'- ATAGATCAAAGCCCTTTCTTCTTGGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation