Incidental Mutation 'R4767:Atp9b'
| ID |
366250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9b
|
| Ensembl Gene |
ENSMUSG00000024566 |
| Gene Name |
ATPase, class II, type 9B |
| Synonyms |
IIb |
| MMRRC Submission |
042408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R4767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80777356-80977275 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80796285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 919
(H919Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091790]
[ENSMUST00000225235]
[ENSMUST00000225980]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091790
AA Change: H919Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: H919Q
| 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 |
probably benign
Transcript: ENSMUST00000225218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225692
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225980
AA Change: H919Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.9674 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,029,804 (GRCm39) |
|
probably null |
Het |
| Aig1 |
T |
C |
10: 13,677,602 (GRCm39) |
N130S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,861,047 (GRCm39) |
Y160* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,902,358 (GRCm39) |
I755T |
probably benign |
Het |
| Apoc3 |
C |
A |
9: 46,145,833 (GRCm39) |
E21* |
probably null |
Het |
| Cemip |
T |
G |
7: 83,622,514 (GRCm39) |
Y555S |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,971,025 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cracr2a |
A |
T |
6: 127,588,470 (GRCm39) |
N210Y |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Csnk1d |
A |
G |
11: 120,859,954 (GRCm39) |
S318P |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,427,751 (GRCm39) |
L384P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,270,620 (GRCm39) |
T974I |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,163,922 (GRCm39) |
Y863C |
possibly damaging |
Het |
| Epg5 |
C |
A |
18: 78,066,498 (GRCm39) |
P2133T |
possibly damaging |
Het |
| Ephb6 |
A |
T |
6: 41,591,119 (GRCm39) |
Q92L |
possibly damaging |
Het |
| Ercc4 |
C |
A |
16: 12,939,959 (GRCm39) |
A73D |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,701,235 (GRCm39) |
Y290F |
probably damaging |
Het |
| Galnt5 |
T |
A |
2: 57,918,156 (GRCm39) |
V798E |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,786,342 (GRCm39) |
E149G |
probably damaging |
Het |
| Ighv1-13 |
A |
G |
12: 114,594,556 (GRCm39) |
Y86C |
unknown |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,633,620 (GRCm39) |
V1584A |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,358,010 (GRCm39) |
E1119G |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,185 (GRCm39) |
L335P |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,237,550 (GRCm39) |
D375G |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,051,358 (GRCm39) |
I317T |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,558,898 (GRCm39) |
V128I |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,023 (GRCm39) |
D458N |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,335 (GRCm39) |
M1L |
probably benign |
Het |
| Or1o1 |
T |
A |
17: 37,717,091 (GRCm39) |
C217* |
probably null |
Het |
| Or5a1 |
G |
T |
19: 12,097,300 (GRCm39) |
H247N |
probably damaging |
Het |
| Or8g24 |
T |
C |
9: 38,989,988 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,409 (GRCm39) |
C189S |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,005,072 (GRCm39) |
H663R |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,525,705 (GRCm39) |
S377P |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,672,990 (GRCm39) |
D63G |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,474,495 (GRCm39) |
|
probably benign |
Het |
| Rbm5 |
C |
A |
9: 107,622,412 (GRCm39) |
W546C |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 107,929,288 (GRCm39) |
C1257F |
probably damaging |
Het |
| Rnf185 |
A |
G |
11: 3,382,551 (GRCm39) |
S45P |
possibly damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
| Slfn8 |
G |
A |
11: 82,894,023 (GRCm39) |
A872V |
possibly damaging |
Het |
| Smoc1 |
G |
A |
12: 81,151,547 (GRCm39) |
|
probably null |
Het |
| Sox14 |
A |
T |
9: 99,757,686 (GRCm39) |
W18R |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,848,969 (GRCm39) |
E1053G |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,294,866 (GRCm39) |
K1246* |
probably null |
Het |
| Tbrg4 |
A |
C |
11: 6,570,909 (GRCm39) |
S188A |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,111,279 (GRCm39) |
D196E |
probably damaging |
Het |
| Tmem266 |
C |
T |
9: 55,288,025 (GRCm39) |
T34I |
probably damaging |
Het |
| Tmem59l |
C |
A |
8: 70,938,748 (GRCm39) |
R111L |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,306,280 (GRCm39) |
|
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,643,687 (GRCm39) |
S491P |
probably damaging |
Het |
| Tspan10 |
A |
T |
11: 120,336,992 (GRCm39) |
N254I |
probably damaging |
Het |
| Ubox5 |
A |
T |
2: 130,433,814 (GRCm39) |
L511Q |
probably damaging |
Het |
| Vmn1r183 |
TATCCATC |
TATC |
7: 23,754,531 (GRCm39) |
|
probably null |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,397 (GRCm39) |
C577Y |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,291,606 (GRCm39) |
M53K |
probably benign |
Het |
| Zfp948 |
T |
A |
17: 21,808,569 (GRCm39) |
I587N |
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 |
|
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'- GTGACACCCAGTAAGTCCAG -3'
(R):5'- AGGTTCTAGTACAGTCTCCTCTACC -3'
Sequencing Primer
(F):5'- GTAAGTCCAGCGTAACTCCC -3'
(R):5'- CCATGCTAGGGGTCAAGCAG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation