Incidental Mutation 'R8884:Atp9b'
| ID |
677198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
068690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8884 (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 80838562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 451
(T451S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000223926]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: T451S
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225205
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: T451S
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
AA Change: T68S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,354 (GRCm39) |
F168Y |
probably damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,737 (GRCm39) |
Y133C |
probably damaging |
Het |
| Aasdh |
A |
G |
5: 77,039,641 (GRCm39) |
S223P |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,964,941 (GRCm39) |
D453G |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,236,728 (GRCm39) |
F541I |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,860,110 (GRCm39) |
K326* |
probably null |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,541 (GRCm39) |
N448S |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,355 (GRCm39) |
K118E |
possibly damaging |
Het |
| B4galt6 |
A |
T |
18: 20,822,072 (GRCm39) |
N307K |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,042,981 (GRCm39) |
M1569I |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,478,984 (GRCm39) |
T121I |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,744,467 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,027,860 (GRCm39) |
D535V |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,946 (GRCm39) |
F228L |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,719,757 (GRCm39) |
D404E |
probably benign |
Het |
| Commd8 |
G |
A |
5: 72,325,514 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,615 (GRCm39) |
Q337L |
possibly damaging |
Het |
| Dctn6 |
T |
C |
8: 34,557,933 (GRCm39) |
T180A |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,447,553 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,856,884 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,556,550 (GRCm39) |
I469T |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,115,052 (GRCm39) |
I240N |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,280 (GRCm39) |
T1337I |
probably damaging |
Het |
| Fbxw13 |
T |
A |
9: 109,010,469 (GRCm39) |
M390L |
probably benign |
Het |
| Fgr |
C |
T |
4: 132,713,609 (GRCm39) |
P46S |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,400,641 (GRCm39) |
M249K |
probably benign |
Het |
| Gm40460 |
A |
T |
7: 141,794,555 (GRCm39) |
C87* |
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,760,705 (GRCm39) |
R417C |
unknown |
Het |
| Insr |
T |
C |
8: 3,205,679 (GRCm39) |
N1370S |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,414,089 (GRCm39) |
E722K |
|
Het |
| Larp6 |
G |
A |
9: 60,620,682 (GRCm39) |
G65E |
|
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc16 |
G |
A |
9: 18,555,496 (GRCm39) |
T3599I |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,156 (GRCm39) |
F706L |
unknown |
Het |
| Nbea |
A |
T |
3: 55,712,720 (GRCm39) |
M2119K |
probably benign |
Het |
| Or13a18 |
C |
T |
7: 140,190,616 (GRCm39) |
P171L |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,224 (GRCm39) |
T53S |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,574,553 (GRCm39) |
V83I |
probably damaging |
Het |
| Pdcd1lg2 |
G |
T |
19: 29,423,318 (GRCm39) |
|
probably null |
Het |
| Pde7a |
G |
A |
3: 19,281,858 (GRCm39) |
A464V |
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,213 (GRCm39) |
F155L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,936,513 (GRCm39) |
D192G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,282,193 (GRCm39) |
D320G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,980,730 (GRCm39) |
V98A |
probably benign |
Het |
| Ric3 |
C |
T |
7: 108,637,688 (GRCm39) |
G356D |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,781,840 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,622,910 (GRCm39) |
T214A |
probably damaging |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,871 (GRCm39) |
V595G |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,119,486 (GRCm39) |
H4508L |
probably damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,254 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,836,989 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,181,822 (GRCm39) |
Q4171P |
possibly damaging |
Het |
| Tgfb2 |
G |
A |
1: 186,364,907 (GRCm39) |
T232I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,794,327 (GRCm39) |
S486G |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,657 (GRCm39) |
V466A |
probably benign |
Het |
| Treh |
C |
G |
9: 44,595,800 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,696 (GRCm39) |
S8G |
unknown |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,458 (GRCm39) |
L68P |
probably damaging |
Het |
| Vmn2r37 |
T |
G |
7: 9,218,916 (GRCm39) |
L489F |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,734 (GRCm39) |
T802S |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,769 (GRCm39) |
F68I |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,236,924 (GRCm39) |
V113A |
probably benign |
Het |
| Zfp354a |
A |
T |
11: 50,950,805 (GRCm39) |
|
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 |
|
|
|
R8700:Atp9b
|
UTSW |
18 |
80,796,361 (GRCm39) |
missense |
|
|
|
R8830:Atp9b
|
UTSW |
18 |
80,809,015 (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'- AGTCGAGCCTAGACACCTATAG -3'
(R):5'- TGCTGTAACTCATGCAGAAGG -3'
Sequencing Primer
(F):5'- GATCTAGCAAGCAGTTATGACAC -3'
(R):5'- GTAACTCATGCAGAAGGAATTATCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation