Incidental Mutation 'R5877:Atp9b'
| ID |
455627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
044083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80796004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 957
(V957I)
|
| 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: V957I
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: V957I
| 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 |
unknown
Transcript: ENSMUST00000225092
AA Change: V13I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225218
AA Change: V32I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: V957I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,453,822 (GRCm39) |
H213L |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
| Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
| Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
| Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
| Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
| Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
| Fbxw10 |
A |
T |
11: 62,748,542 (GRCm39) |
N390Y |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
| Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
| Hif3a |
G |
T |
7: 16,785,071 (GRCm39) |
A181E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
| Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
| Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
| P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,367,004 (GRCm39) |
I212S |
probably damaging |
Het |
| Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
| Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
| Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
| Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
| Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
| Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
| Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,113 (GRCm39) |
M583K |
possibly damaging |
Het |
| Usp33 |
G |
A |
3: 152,085,233 (GRCm39) |
C623Y |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
probably null |
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 |
|
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'- AAGGCATATGCGTACAGGTG -3'
(R):5'- GGTATCAATGCCCACCATGC -3'
Sequencing Primer
(F):5'- CATATGCGTACAGGTGTTTTTCAAG -3'
(R):5'- TCAGCAGGCAGTGGCTTCTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation