Incidental Mutation 'R6927:Atp9b'
| ID |
541189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
045044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6927 (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 C
at 80935072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 208
(K208E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225205]
[ENSMUST00000225235]
[ENSMUST00000225980]
[ENSMUST00000226064]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: K208E
| 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: ENSMUST00000224709
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225205
AA Change: K208E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225235
AA Change: K208E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225980
AA Change: K208E
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226064
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,317 (GRCm39) |
W229R |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
| Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,893,546 (GRCm39) |
P439S |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
| Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
| Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
| Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
| Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
| Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
| Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
| Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
| Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
| Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
| Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
G |
C |
9: 101,052,547 (GRCm39) |
H221D |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
| Slc22a23 |
G |
T |
13: 34,528,362 (GRCm39) |
A140D |
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,103,300 (GRCm39) |
H812R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
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 |
|
R6821:Atp9b
|
UTSW |
18 |
80,890,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAGCACTTCATACAGCTTTGTG -3'
(R):5'- ACAGGGTCTCCTTAGTCTGAATG -3'
Sequencing Primer
(F):5'- GCACTTCATACAGCTTTGTGTCAGTG -3'
(R):5'- CTCCTTAGTCTGAATGTTGTCGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation