Incidental Mutation 'R1953:Atp9b'
| ID |
217518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
039967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R1953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80797522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 851
(T851I)
|
| 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: T851I
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: T851I
| 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 |
possibly damaging
Transcript: ENSMUST00000225980
AA Change: T851I
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,268,772 (GRCm39) |
D12E |
probably damaging |
Het |
| Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,369,387 (GRCm39) |
S209F |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,028,991 (GRCm39) |
N247S |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 52,997,030 (GRCm39) |
L101S |
probably damaging |
Het |
| Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,721,726 (GRCm39) |
S2060P |
probably benign |
Het |
| Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
| Bpifb9b |
A |
C |
2: 154,153,234 (GRCm39) |
D100A |
probably damaging |
Het |
| Cant1 |
G |
C |
11: 118,299,609 (GRCm39) |
P247A |
probably damaging |
Het |
| Capza3 |
A |
T |
6: 139,988,294 (GRCm39) |
I298L |
possibly damaging |
Het |
| Cdh10 |
T |
C |
15: 18,966,997 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,381 (GRCm39) |
V2551A |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,551 (GRCm39) |
L287P |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,997,313 (GRCm39) |
T257I |
probably benign |
Het |
| Crispld2 |
G |
A |
8: 120,742,035 (GRCm39) |
V128M |
probably damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,859,332 (GRCm39) |
T2043A |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,581,522 (GRCm39) |
T447I |
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,869,538 (GRCm39) |
T742A |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,492,894 (GRCm39) |
T499A |
probably benign |
Het |
| Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
| Fgd5 |
C |
A |
6: 92,001,611 (GRCm39) |
H935Q |
probably benign |
Het |
| Fhl4 |
A |
T |
10: 84,934,171 (GRCm39) |
D203E |
probably benign |
Het |
| Gapt |
T |
G |
13: 110,490,340 (GRCm39) |
T108P |
probably damaging |
Het |
| Gpt2 |
A |
G |
8: 86,248,013 (GRCm39) |
T419A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,681,291 (GRCm39) |
V907A |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,741 (GRCm39) |
D211G |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,557,860 (GRCm39) |
V170A |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,349,009 (GRCm39) |
T732S |
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,159,022 (GRCm39) |
Y546H |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,832,540 (GRCm39) |
H1670Y |
possibly damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,524,325 (GRCm39) |
D385G |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,857,079 (GRCm39) |
D30V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,294 (GRCm39) |
S580P |
probably benign |
Het |
| Or4c108 |
G |
A |
2: 88,804,224 (GRCm39) |
Q4* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,774,267 (GRCm39) |
L64P |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,344 (GRCm39) |
V158E |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,038 (GRCm39) |
H952R |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,410,849 (GRCm39) |
I1061F |
possibly damaging |
Het |
| Pnkp |
C |
A |
7: 44,512,026 (GRCm39) |
R517S |
probably benign |
Het |
| Polr2e |
T |
A |
10: 79,874,388 (GRCm39) |
E39D |
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,767,312 (GRCm39) |
I187T |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,575 (GRCm39) |
Y90C |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Rere |
G |
A |
4: 150,701,294 (GRCm39) |
E1225K |
probably damaging |
Het |
| Rsl24d1 |
G |
T |
9: 73,021,896 (GRCm39) |
|
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
| Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,776 (GRCm39) |
T72A |
possibly damaging |
Het |
| Snx29 |
G |
A |
16: 11,217,647 (GRCm39) |
W149* |
probably null |
Het |
| Stk31 |
G |
T |
6: 49,423,412 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
G |
5: 87,735,530 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
G |
A |
17: 27,163,661 (GRCm39) |
R41H |
possibly damaging |
Het |
| Tbc1d17 |
T |
A |
7: 44,490,822 (GRCm39) |
|
probably null |
Het |
| Tex55 |
G |
T |
16: 38,648,275 (GRCm39) |
T278K |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,329,987 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,692,083 (GRCm39) |
D848E |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,283,122 (GRCm39) |
I272T |
probably benign |
Het |
| Vwa1 |
C |
T |
4: 155,857,571 (GRCm39) |
V76M |
probably damaging |
Het |
| Xrn1 |
G |
T |
9: 95,906,274 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
G |
T |
7: 6,308,087 (GRCm39) |
V252F |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably damaging |
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 |
|
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'- GGATCATGCTCACGTCATTCCC -3'
(R):5'- TACTTGAGGAAGGCTGAAGC -3'
Sequencing Primer
(F):5'- TCGCCTGAGAGGTACCAAG -3'
(R):5'- AGGCTGAAGCTTTCTTACAACTCTG -3'
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| Posted On |
2014-08-01 |
Incidental Mutation