Incidental Mutation 'R2191:Atp9b'
| ID |
238157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2191 (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 80796266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 926
(R926W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225235]
[ENSMUST00000225980]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000091790
AA Change: R926W
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: R926W
| 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 |
unknown
Transcript: ENSMUST00000225218
AA Change: R1W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225692
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225980
AA Change: R926W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,218,576 (GRCm39) |
L736* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
| Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,704 (GRCm39) |
Q475L |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
| Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,441 (GRCm39) |
D138G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,465 (GRCm39) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,756,528 (GRCm39) |
S700T |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
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 |
|
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'- CACCAGTGCTACATTTGTCTCG -3'
(R):5'- CACAGGTTCTAGTACAGTCTCCTC -3'
Sequencing Primer
(F):5'- ACATTTGTCTCGTCTTTACAGAGG -3'
(R):5'- CCATGCTAGGGGTCAAGCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation