Incidental Mutation 'R4775:Atp9b'
| ID |
367886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
041991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4775 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 80808984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000091790
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
| 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 null
Transcript: ENSMUST00000225980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,134,165 (GRCm39) |
Y426C |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,745,361 (GRCm39) |
I621T |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,597,278 (GRCm39) |
Y260* |
probably null |
Het |
| Adgrf1 |
C |
T |
17: 43,622,054 (GRCm39) |
L764F |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| C5ar2 |
A |
C |
7: 15,971,540 (GRCm39) |
L129R |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,867,875 (GRCm39) |
|
probably null |
Het |
| Cidec |
T |
C |
6: 113,411,695 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
T |
16: 10,456,778 (GRCm39) |
R663L |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 129,976,468 (GRCm39) |
C118R |
possibly damaging |
Het |
| Cox6b2 |
A |
G |
7: 4,755,074 (GRCm39) |
C67R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,454,229 (GRCm39) |
I92F |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,897,156 (GRCm39) |
S792T |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,238,190 (GRCm39) |
N101Y |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,604,184 (GRCm39) |
T884A |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,942,584 (GRCm39) |
W617R |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,768,566 (GRCm39) |
V1503A |
probably benign |
Het |
| Engase |
A |
T |
11: 118,373,497 (GRCm39) |
D280V |
probably benign |
Het |
| F11r |
T |
C |
1: 171,289,209 (GRCm39) |
S224P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,023,045 (GRCm39) |
V564A |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,073 (GRCm39) |
W51R |
possibly damaging |
Het |
| Gm94 |
A |
G |
18: 43,925,836 (GRCm39) |
|
probably null |
Het |
| Gm9830 |
A |
T |
9: 44,375,721 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
T |
A |
15: 76,218,891 (GRCm39) |
|
probably null |
Het |
| Grin1 |
C |
T |
2: 25,182,475 (GRCm39) |
A929T |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,332 (GRCm39) |
D188E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,970 (GRCm39) |
F395L |
probably benign |
Het |
| Lipo3 |
C |
A |
19: 33,757,795 (GRCm39) |
G225C |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,857,140 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
A |
G |
13: 100,753,303 (GRCm39) |
|
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,777 (GRCm39) |
L416P |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,359,930 (GRCm39) |
L312P |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,977,730 (GRCm39) |
S113T |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,085,689 (GRCm39) |
Q149* |
probably null |
Het |
| Myt1 |
T |
A |
2: 181,464,470 (GRCm39) |
I968N |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,265 (GRCm39) |
Y228H |
probably damaging |
Het |
| Nelfcd |
T |
G |
2: 174,268,369 (GRCm39) |
C520G |
probably damaging |
Het |
| Nfrkb |
C |
A |
9: 31,330,345 (GRCm39) |
T1199K |
possibly damaging |
Het |
| Nipa2 |
A |
G |
7: 55,585,611 (GRCm39) |
I109T |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,042,525 (GRCm39) |
T804A |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,763,419 (GRCm39) |
I395K |
possibly damaging |
Het |
| Nt5c1b |
G |
A |
12: 10,425,449 (GRCm39) |
V331I |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,377 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pask |
T |
C |
1: 93,265,246 (GRCm39) |
D3G |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,037 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,019,825 (GRCm39) |
V377M |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,700,749 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,135,922 (GRCm39) |
|
probably null |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,092,551 (GRCm39) |
Y350F |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,993,261 (GRCm39) |
H328L |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,282,018 (GRCm39) |
C497Y |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,497 (GRCm39) |
W864R |
possibly damaging |
Het |
| Stkld1 |
T |
A |
2: 26,841,757 (GRCm39) |
V543E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,469,940 (GRCm39) |
S963P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,653,959 (GRCm39) |
L354P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,821,079 (GRCm39) |
L325P |
probably damaging |
Het |
| Trappc3l |
C |
G |
10: 33,974,807 (GRCm39) |
H96Q |
probably benign |
Het |
| Trim66 |
A |
T |
7: 109,056,796 (GRCm39) |
Y1120* |
probably null |
Het |
| Trio |
G |
A |
15: 27,881,428 (GRCm39) |
Q548* |
probably null |
Het |
| Wipf2 |
T |
A |
11: 98,781,558 (GRCm39) |
D32E |
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 |
|
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'- TCAATTGGACTCACACCAGC -3'
(R):5'- GGCAGTTGCTCCTCATACATTC -3'
Sequencing Primer
(F):5'- CTCAGCTCATACAGTATTAGCTGTTG -3'
(R):5'- ATACATTCTGCTCTCTCCAGGTGG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation