Incidental Mutation 'R6170:Atp9b'
| ID |
490417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
044431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6170 (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 A
at 80920562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 231
(I231L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000223926]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091790
AA Change: I231L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: I231L
| 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: ENSMUST00000223926
AA Change: I7L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000224709
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225205
AA Change: I231L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
AA Change: I231L
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: I231L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Meta Mutation Damage Score |
0.1562 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (68/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
| 4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
| Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
| Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,776,216 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
| Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
| Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
| Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
| Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,774,712 (GRCm39) |
N236K |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
| Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
| Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
| Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
| Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
| Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
| Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
| Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
| Nrg1 |
A |
G |
8: 32,308,508 (GRCm39) |
Y503H |
probably damaging |
Het |
| Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,058,293 (GRCm39) |
Y167H |
probably benign |
Het |
| Ppargc1a |
C |
A |
5: 51,631,253 (GRCm39) |
A459S |
probably damaging |
Het |
| Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
| Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
| Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
| Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
| Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
| Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
| Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
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 |
|
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'- CCGAGGTCAAATGAGATACACTAAGC -3'
(R):5'- TGAAAGTATGAGGAGAGATTTCTGC -3'
Sequencing Primer
(F):5'- TACCTAAAGACGCTGAAATATGCAG -3'
(R):5'- CCCTGGGTTGATTGTACTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation