Incidental Mutation 'R6821:Atp9b'
| ID |
537652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
044933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80890463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 292
(L292H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000223926]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091790
AA Change: L292H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: L292H
| 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: L68H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224709
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225205
AA Change: L292H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225235
AA Change: L292H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225980
AA Change: L292H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,277,268 (GRCm39) |
I417T |
probably benign |
Het |
| Adamts12 |
A |
C |
15: 11,152,134 (GRCm39) |
K208T |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,922 (GRCm39) |
L582Q |
probably benign |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Ano9 |
A |
T |
7: 140,687,169 (GRCm39) |
F357I |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,189,547 (GRCm39) |
V416A |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,853,659 (GRCm39) |
F1901C |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,855,480 (GRCm39) |
F506I |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,963,712 (GRCm39) |
V891A |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,731,072 (GRCm39) |
S650P |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,085,044 (GRCm39) |
N791Y |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| D630003M21Rik |
A |
C |
2: 158,046,694 (GRCm39) |
L761R |
probably damaging |
Het |
| Draxin |
G |
T |
4: 148,200,148 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Dtx3l |
A |
T |
16: 35,753,430 (GRCm39) |
L392Q |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,855 (GRCm39) |
S389P |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,359,582 (GRCm39) |
N757S |
possibly damaging |
Het |
| Fam228b |
T |
C |
12: 4,813,083 (GRCm39) |
I96V |
probably benign |
Het |
| Gars1 |
A |
G |
6: 55,056,323 (GRCm39) |
E728G |
probably benign |
Het |
| Gldn |
T |
C |
9: 54,246,054 (GRCm39) |
M535T |
probably benign |
Het |
| Gm47985 |
A |
G |
1: 151,058,787 (GRCm39) |
T143A |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,004 (GRCm39) |
T193A |
probably benign |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,438,719 (GRCm39) |
Y1315F |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,099,745 (GRCm39) |
D197G |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,060 (GRCm39) |
I2T |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,274,907 (GRCm39) |
E621G |
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,907 (GRCm39) |
P47S |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,138 (GRCm39) |
K177R |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,818,525 (GRCm39) |
F260S |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,077,723 (GRCm39) |
T573A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,376,845 (GRCm39) |
I3812N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,415,301 (GRCm39) |
N3403S |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,954,535 (GRCm39) |
Q343* |
probably null |
Het |
| Ocstamp |
A |
T |
2: 165,239,842 (GRCm39) |
S115T |
probably benign |
Het |
| Or51ai2 |
A |
T |
7: 103,586,793 (GRCm39) |
I69F |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,692,070 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,175 (GRCm39) |
N567I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,839,011 (GRCm39) |
V48E |
possibly damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,314,174 (GRCm39) |
S1182R |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,805 (GRCm39) |
L386Q |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,785 (GRCm39) |
K287E |
possibly damaging |
Het |
| Pramel23 |
A |
T |
4: 143,425,874 (GRCm39) |
L23* |
probably null |
Het |
| Rad54b |
A |
G |
4: 11,612,777 (GRCm39) |
D803G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,354,400 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
C |
T |
8: 95,362,059 (GRCm39) |
Q113* |
probably null |
Het |
| Siah2 |
T |
A |
3: 58,599,191 (GRCm39) |
S16C |
probably benign |
Het |
| Sirpa |
C |
A |
2: 129,472,017 (GRCm39) |
D481E |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,571,548 (GRCm39) |
D227E |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,220,151 (GRCm39) |
V438A |
probably benign |
Het |
| Spast |
A |
G |
17: 74,658,957 (GRCm39) |
E108G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,547 (GRCm39) |
E1752G |
possibly damaging |
Het |
| Tanc2 |
T |
G |
11: 105,777,316 (GRCm39) |
|
probably null |
Het |
| Tgfbi |
T |
C |
13: 56,773,950 (GRCm39) |
I243T |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,510,685 (GRCm39) |
S522G |
possibly damaging |
Het |
| Trav14-3 |
A |
G |
14: 54,000,929 (GRCm39) |
I47V |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,760,906 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttl |
G |
A |
2: 128,910,835 (GRCm39) |
R73H |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,317,491 (GRCm39) |
T850I |
possibly damaging |
Het |
| Vdac3 |
T |
C |
8: 23,070,491 (GRCm39) |
Y140C |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,843,659 (GRCm39) |
R62G |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,577,331 (GRCm39) |
Y461N |
probably damaging |
Het |
| Wt1 |
T |
A |
2: 105,002,612 (GRCm39) |
F493I |
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 |
|
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 |
|
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'- ACTCTAGACTGAACTGTTGTCTC -3'
(R):5'- AACGCTTCGAATGACACTCTC -3'
Sequencing Primer
(F):5'- CTGTTGTCTCTAAACAAAGGTCC -3'
(R):5'- GTGTCATTATTCAGTCATTTGATGTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation