Incidental Mutation 'R7877:Atp9b'
| ID |
608545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
045929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80890412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 309
(H309L)
|
| 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: H309L
| 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 damaging
Transcript: ENSMUST00000223926
AA Change: H85L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224709
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225205
AA Change: H309L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225235
AA Change: H309L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: H309L
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,220,665 (GRCm39) |
C388Y |
probably damaging |
Het |
| 4930522L14Rik |
G |
A |
5: 109,884,230 (GRCm39) |
H543Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,046,135 (GRCm39) |
V1711E |
possibly damaging |
Het |
| Abca3 |
A |
T |
17: 24,602,997 (GRCm39) |
K531* |
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,752,729 (GRCm39) |
D557V |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,842,467 (GRCm39) |
E865G |
probably benign |
Het |
| Adprhl1 |
T |
A |
8: 13,275,316 (GRCm39) |
R481* |
probably null |
Het |
| Afap1l1 |
T |
A |
18: 61,879,853 (GRCm39) |
D339V |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,470,112 (GRCm39) |
V122A |
probably damaging |
Het |
| Btg4 |
T |
C |
9: 51,029,240 (GRCm39) |
S142P |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,914,665 (GRCm39) |
T865S |
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,131,661 (GRCm39) |
Y964C |
unknown |
Het |
| Cenpo |
A |
T |
12: 4,264,573 (GRCm39) |
F273Y |
probably damaging |
Het |
| Cfap96 |
T |
A |
8: 46,423,436 (GRCm39) |
K92M |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,987 (GRCm39) |
D196E |
probably damaging |
Het |
| Clec4n |
T |
C |
6: 123,209,063 (GRCm39) |
F43L |
probably benign |
Het |
| Colgalt1 |
T |
A |
8: 72,074,508 (GRCm39) |
C407S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,906,830 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
T |
A |
7: 26,385,851 (GRCm39) |
E2V |
probably damaging |
Het |
| Cyp51 |
T |
A |
5: 4,152,929 (GRCm39) |
K91M |
probably damaging |
Het |
| Cyria |
A |
C |
12: 12,414,798 (GRCm39) |
Y263S |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,882,348 (GRCm39) |
G640V |
probably benign |
Het |
| Dnajc2 |
G |
T |
5: 21,965,637 (GRCm39) |
S505R |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,053 (GRCm39) |
L110H |
probably damaging |
Het |
| Fem1b |
T |
A |
9: 62,703,844 (GRCm39) |
Y472F |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,932,049 (GRCm39) |
|
probably null |
Het |
| Gabrg1 |
A |
T |
5: 70,973,415 (GRCm39) |
D46E |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,266,161 (GRCm39) |
K627E |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,491,900 (GRCm39) |
D776G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,467,575 (GRCm39) |
V207A |
possibly damaging |
Het |
| Gm7298 |
T |
A |
6: 121,759,741 (GRCm39) |
Y1213* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,604,033 (GRCm39) |
L74* |
probably null |
Het |
| Hc |
A |
T |
2: 34,887,411 (GRCm39) |
Y1364* |
probably null |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,302 (GRCm39) |
S186R |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,582 (GRCm39) |
I374V |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,311,490 (GRCm39) |
L975P |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,654,222 (GRCm39) |
V905I |
probably benign |
Het |
| Large1 |
T |
A |
8: 73,843,071 (GRCm39) |
R151W |
probably damaging |
Het |
| Limd2 |
G |
A |
11: 106,050,004 (GRCm39) |
T24M |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,734,206 (GRCm39) |
C569* |
probably null |
Het |
| Mettl1 |
T |
G |
10: 126,880,390 (GRCm39) |
V104G |
possibly damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,900 (GRCm39) |
T61A |
probably benign |
Het |
| Mrps31 |
T |
A |
8: 22,914,367 (GRCm39) |
Y238N |
probably benign |
Het |
| Mrs2 |
T |
C |
13: 25,181,113 (GRCm39) |
E236G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Noxred1 |
G |
A |
12: 87,271,761 (GRCm39) |
A136V |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,024,588 (GRCm39) |
D484V |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,431 (GRCm39) |
G206R |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,882,434 (GRCm39) |
C680Y |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,241 (GRCm39) |
F1614S |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,147,235 (GRCm39) |
M1129V |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,572,928 (GRCm39) |
T7I |
unknown |
Het |
| Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,253 (GRCm39) |
I104N |
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,289,402 (GRCm39) |
W48R |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,910,886 (GRCm39) |
C317S |
probably damaging |
Het |
| Smim13 |
G |
T |
13: 41,403,650 (GRCm39) |
|
probably benign |
Het |
| Snrpg |
T |
C |
6: 86,355,761 (GRCm39) |
V76A |
probably benign |
Het |
| Sntb2 |
C |
T |
8: 107,738,164 (GRCm39) |
T509I |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,079,601 (GRCm39) |
D1276G |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,794,290 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Stau1 |
T |
A |
2: 166,792,787 (GRCm39) |
N393Y |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,653,401 (GRCm39) |
S500T |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 56,993,488 (GRCm39) |
D559E |
probably benign |
Het |
| Trav14-2 |
T |
C |
14: 53,878,508 (GRCm39) |
Y64H |
possibly damaging |
Het |
| Trpm3 |
A |
C |
19: 22,882,148 (GRCm39) |
E838D |
probably benign |
Het |
| Vmn1r23 |
G |
A |
6: 57,903,541 (GRCm39) |
A79V |
probably benign |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,431 (GRCm39) |
N131K |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,437 (GRCm39) |
M229K |
probably damaging |
Het |
| Zbtb4 |
G |
A |
11: 69,666,863 (GRCm39) |
R56K |
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,975,188 (GRCm39) |
G486W |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,580 (GRCm39) |
F453Y |
possibly 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 |
|
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 |
|
|
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'- AGAGAGCCTGCACTGAATG -3'
(R):5'- ACTCCCTGGATCAGAAGGTG -3'
Sequencing Primer
(F):5'- CACAGATGCTGCTGAGAAGATC -3'
(R):5'- CCCTGGATCAGAAGGTGGTGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation