Incidental Mutation 'R0366:Atp9b'
| ID |
36450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
038572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80805317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 747
(V747E)
|
| 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 damaging
Transcript: ENSMUST00000091790
AA Change: V747E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: V747E
| 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: V747E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Meta Mutation Damage Score |
0.9693 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
T |
17: 46,635,724 (GRCm39) |
S93* |
probably null |
Het |
| Ackr2 |
T |
C |
9: 121,738,426 (GRCm39) |
L267P |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,099,001 (GRCm39) |
L169* |
probably null |
Het |
| Ankrd12 |
T |
A |
17: 66,291,501 (GRCm39) |
S1311C |
possibly damaging |
Het |
| Arid2 |
T |
A |
15: 96,259,601 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
C |
19: 9,969,417 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
C |
A |
16: 95,839,164 (GRCm39) |
E836* |
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,851,934 (GRCm39) |
S1177G |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,291,884 (GRCm39) |
E1766K |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,857,507 (GRCm39) |
I301T |
probably benign |
Het |
| Cdc27 |
T |
G |
11: 104,396,474 (GRCm39) |
T816P |
probably damaging |
Het |
| Cep162 |
T |
G |
9: 87,102,537 (GRCm39) |
Q708H |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,830,321 (GRCm39) |
D1301E |
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,085,685 (GRCm39) |
H955Y |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
| Efcab12 |
A |
G |
6: 115,800,209 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,849,537 (GRCm39) |
V1428A |
unknown |
Het |
| Erbb3 |
T |
C |
10: 128,408,439 (GRCm39) |
E825G |
possibly damaging |
Het |
| Evl |
A |
T |
12: 108,652,307 (GRCm39) |
|
probably null |
Het |
| Fuca2 |
G |
A |
10: 13,381,507 (GRCm39) |
R140H |
probably benign |
Het |
| Gm5581 |
T |
C |
6: 131,143,410 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7052 |
T |
C |
17: 22,259,498 (GRCm39) |
|
probably benign |
Het |
| Gpd1 |
T |
G |
15: 99,617,151 (GRCm39) |
I119S |
probably damaging |
Het |
| Gzmc |
A |
T |
14: 56,470,193 (GRCm39) |
Y101* |
probably null |
Het |
| Hmcn2 |
G |
T |
2: 31,314,218 (GRCm39) |
A3588S |
possibly damaging |
Het |
| Ikbkb |
A |
G |
8: 23,185,276 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
T |
7: 127,748,261 (GRCm39) |
|
probably benign |
Het |
| Kif24 |
C |
A |
4: 41,428,717 (GRCm39) |
S81I |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,214,199 (GRCm39) |
P1858S |
probably benign |
Het |
| Map2k1 |
C |
A |
9: 64,100,984 (GRCm39) |
|
probably null |
Het |
| Mdga1 |
A |
G |
17: 30,076,682 (GRCm39) |
V30A |
possibly damaging |
Het |
| Meiosin |
T |
A |
7: 18,840,964 (GRCm39) |
I57F |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,124 (GRCm39) |
P1441L |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,963,739 (GRCm39) |
F596Y |
possibly damaging |
Het |
| Notch4 |
A |
T |
17: 34,800,473 (GRCm39) |
|
probably benign |
Het |
| Or2l5 |
A |
G |
16: 19,333,598 (GRCm39) |
S263P |
probably benign |
Het |
| Or4c12 |
A |
C |
2: 89,774,162 (GRCm39) |
V99G |
possibly damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,840 (GRCm39) |
M256T |
possibly damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,450 (GRCm39) |
C162S |
possibly damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,369 (GRCm39) |
V9A |
possibly damaging |
Het |
| Pbld2 |
A |
G |
10: 62,889,736 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,808,460 (GRCm39) |
Y505C |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,554,928 (GRCm39) |
F58L |
probably benign |
Het |
| Plcd1 |
T |
A |
9: 118,910,204 (GRCm39) |
I72F |
probably damaging |
Het |
| Ppp5c |
A |
T |
7: 16,756,508 (GRCm39) |
Y63* |
probably null |
Het |
| Prdm4 |
T |
C |
10: 85,743,868 (GRCm39) |
D129G |
probably damaging |
Het |
| Prkcq |
C |
A |
2: 11,251,649 (GRCm39) |
|
probably benign |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rab7b |
T |
A |
1: 131,626,242 (GRCm39) |
V90D |
probably damaging |
Het |
| Ripk3 |
T |
C |
14: 56,024,292 (GRCm39) |
T193A |
probably damaging |
Het |
| Rnf167 |
C |
T |
11: 70,540,143 (GRCm39) |
R88* |
probably null |
Het |
| Robo1 |
A |
G |
16: 72,539,133 (GRCm39) |
T59A |
possibly damaging |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scg3 |
T |
A |
9: 75,582,620 (GRCm39) |
|
probably benign |
Het |
| Sec31a |
A |
T |
5: 100,530,625 (GRCm39) |
L677H |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Setd7 |
T |
C |
3: 51,457,741 (GRCm39) |
T29A |
probably benign |
Het |
| Shoc1 |
A |
C |
4: 59,099,410 (GRCm39) |
M94R |
probably benign |
Het |
| Slc4a5 |
A |
G |
6: 83,272,854 (GRCm39) |
Y942C |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,599,470 (GRCm39) |
Y1027F |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,882,764 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
T |
C |
7: 35,208,227 (GRCm39) |
Q249R |
probably benign |
Het |
| Tmem171 |
T |
A |
13: 98,828,736 (GRCm39) |
D138V |
possibly damaging |
Het |
| Ttll10 |
G |
A |
4: 156,119,612 (GRCm39) |
R596W |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,742,850 (GRCm39) |
N695K |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCAGTGTGAAAGAGCAAAGCC -3'
(R):5'- ACCCTCAGAGCTGATAGAGTGCAAC -3'
Sequencing Primer
(F):5'- TCGTAGGTTCTGACATCGAACAG -3'
(R):5'- GTGCAACTGTGTAAGTCAAACC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation