Incidental Mutation 'R4661:Atp9a'
| ID |
352826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
041600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4661 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168479592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 928
(F928L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029060
AA Change: F946L
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: F946L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109175
AA Change: F930L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: F930L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
92 |
352 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
369 |
781 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
372 |
778 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
448 |
563 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109176
AA Change: F1004L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: F1004L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
97 |
163 |
1.9e-20 |
PFAM |
|
Pfam:E1-E2_ATPase
|
166 |
418 |
5.8e-13 |
PFAM |
|
Pfam:Hydrolase
|
443 |
855 |
2.8e-13 |
PFAM |
|
Pfam:HAD
|
446 |
852 |
2.4e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
522 |
635 |
1.5e-6 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
869 |
1098 |
1.7e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109177
AA Change: F928L
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: F928L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
90 |
350 |
7.2e-21 |
PFAM |
|
Pfam:Hydrolase
|
367 |
779 |
1.4e-19 |
PFAM |
|
Pfam:HAD
|
370 |
776 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
446 |
561 |
3.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178504
AA Change: F946L
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: F946L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
108 |
368 |
7.4e-21 |
PFAM |
|
Pfam:Hydrolase
|
385 |
797 |
1.5e-19 |
PFAM |
|
Pfam:HAD
|
388 |
794 |
1.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
464 |
579 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200215
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,198,627 (GRCm39) |
N42D |
probably damaging |
Het |
| Adamdec1 |
G |
A |
14: 68,807,562 (GRCm39) |
T366I |
probably damaging |
Het |
| Adamts7 |
C |
A |
9: 90,075,383 (GRCm39) |
H1038Q |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Amhr2 |
A |
T |
15: 102,362,688 (GRCm39) |
D485V |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,298,663 (GRCm39) |
F134Y |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,108,221 (GRCm39) |
D13E |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,855,980 (GRCm39) |
E425G |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,449 (GRCm39) |
I193V |
probably benign |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Catsperz |
T |
G |
19: 6,902,171 (GRCm39) |
T108P |
probably benign |
Het |
| Cep57l1 |
T |
A |
10: 41,595,767 (GRCm39) |
D329V |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chrna2 |
G |
A |
14: 66,386,292 (GRCm39) |
G146D |
probably damaging |
Het |
| Col6a1 |
A |
C |
10: 76,550,506 (GRCm39) |
F520V |
unknown |
Het |
| Cyb5d2 |
C |
A |
11: 72,669,771 (GRCm39) |
V43L |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,775,290 (GRCm39) |
T321A |
probably benign |
Het |
| Dnajc16 |
A |
C |
4: 141,490,859 (GRCm39) |
Y764D |
probably damaging |
Het |
| Dsg1a |
G |
A |
18: 20,473,590 (GRCm39) |
V888M |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,012,489 (GRCm39) |
T468P |
probably damaging |
Het |
| Faap24 |
A |
G |
7: 35,094,509 (GRCm39) |
M97T |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,849,230 (GRCm39) |
I334N |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,562,864 (GRCm39) |
P548T |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,340,731 (GRCm39) |
E94G |
probably damaging |
Het |
| Gm17606 |
A |
T |
14: 54,885,696 (GRCm39) |
|
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,528,515 (GRCm39) |
M1K |
probably null |
Het |
| Gys1 |
G |
A |
7: 45,104,258 (GRCm39) |
A544T |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,675 (GRCm39) |
Y230C |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,244,196 (GRCm39) |
|
probably null |
Het |
| Ifnl2 |
A |
G |
7: 28,209,635 (GRCm39) |
F51L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,387,892 (GRCm39) |
|
probably null |
Het |
| Kcnj1 |
A |
G |
9: 32,307,918 (GRCm39) |
Y114C |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,459 (GRCm39) |
S322T |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,060,909 (GRCm39) |
V414A |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,621,861 (GRCm39) |
K141R |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,490,581 (GRCm39) |
I1394V |
possibly damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,886,433 (GRCm39) |
M74L |
probably damaging |
Het |
| Lrp6 |
C |
T |
6: 134,488,230 (GRCm39) |
D289N |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,548,710 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
C |
16: 32,589,651 (GRCm39) |
E2885A |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 113,023,041 (GRCm39) |
|
probably benign |
Het |
| Ncln |
G |
A |
10: 81,328,902 (GRCm39) |
A172V |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,367,666 (GRCm39) |
T335M |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,042,829 (GRCm39) |
Y1398C |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,933,823 (GRCm39) |
I45F |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,544,074 (GRCm39) |
I45F |
probably damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,887 (GRCm39) |
Y637C |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
| Pold1 |
G |
T |
7: 44,182,233 (GRCm39) |
P1100T |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,977,387 (GRCm39) |
Y41H |
probably damaging |
Het |
| Rgl2 |
C |
T |
17: 34,152,200 (GRCm39) |
A329V |
possibly damaging |
Het |
| Rilp |
T |
A |
11: 75,402,250 (GRCm39) |
Y250N |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,652,751 (GRCm39) |
V19A |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,519 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
A |
G |
1: 74,172,266 (GRCm39) |
K246E |
probably damaging |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Slc26a8 |
A |
T |
17: 28,857,658 (GRCm39) |
N828K |
probably benign |
Het |
| Src |
C |
T |
2: 157,311,852 (GRCm39) |
P527S |
probably damaging |
Het |
| Susd3 |
C |
T |
13: 49,384,778 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
T |
C |
17: 27,185,880 (GRCm39) |
L1270P |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,589 (GRCm39) |
P758S |
probably damaging |
Het |
| Tenm2 |
A |
T |
11: 35,915,275 (GRCm39) |
N2087K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,448,969 (GRCm39) |
I703F |
probably damaging |
Het |
| Thap1 |
C |
G |
8: 26,650,874 (GRCm39) |
T48S |
probably benign |
Het |
| Tspear |
T |
C |
10: 77,702,163 (GRCm39) |
F199L |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,797 (GRCm39) |
H364L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vmn1r1 |
T |
C |
1: 181,984,789 (GRCm39) |
E292G |
possibly damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,552 (GRCm39) |
V150G |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,117 (GRCm39) |
L300I |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,487,885 (GRCm39) |
I838S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,554,060 (GRCm39) |
S197C |
probably damaging |
Het |
| Zfp248 |
A |
T |
6: 118,410,268 (GRCm39) |
V47E |
possibly damaging |
Het |
|
| Other mutations in Atp9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Atp9a
|
APN |
2 |
168,482,600 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01594:Atp9a
|
APN |
2 |
168,532,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Atp9a
|
APN |
2 |
168,495,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Atp9a
|
APN |
2 |
168,494,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Atp9a
|
APN |
2 |
168,491,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Atp9a
|
APN |
2 |
168,494,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Atp9a
|
APN |
2 |
168,531,225 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03310:Atp9a
|
APN |
2 |
168,481,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Atp9a
|
UTSW |
2 |
168,552,776 (GRCm39) |
nonsense |
probably null |
|
|
R0194:Atp9a
|
UTSW |
2 |
168,485,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0427:Atp9a
|
UTSW |
2 |
168,482,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0508:Atp9a
|
UTSW |
2 |
168,491,446 (GRCm39) |
splice site |
probably null |
|
|
R1611:Atp9a
|
UTSW |
2 |
168,515,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Atp9a
|
UTSW |
2 |
168,495,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Atp9a
|
UTSW |
2 |
168,481,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Atp9a
|
UTSW |
2 |
168,552,746 (GRCm39) |
splice site |
probably benign |
|
|
R2404:Atp9a
|
UTSW |
2 |
168,517,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2881:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Atp9a
|
UTSW |
2 |
168,548,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Atp9a
|
UTSW |
2 |
168,531,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Atp9a
|
UTSW |
2 |
168,491,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Atp9a
|
UTSW |
2 |
168,503,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Atp9a
|
UTSW |
2 |
168,523,917 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4583:Atp9a
|
UTSW |
2 |
168,531,280 (GRCm39) |
splice site |
probably null |
|
|
R4626:Atp9a
|
UTSW |
2 |
168,481,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Atp9a
|
UTSW |
2 |
168,503,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4738:Atp9a
|
UTSW |
2 |
168,510,101 (GRCm39) |
missense |
probably benign |
|
|
R5191:Atp9a
|
UTSW |
2 |
168,503,983 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5216:Atp9a
|
UTSW |
2 |
168,516,808 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5280:Atp9a
|
UTSW |
2 |
168,481,908 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5509:Atp9a
|
UTSW |
2 |
168,481,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Atp9a
|
UTSW |
2 |
168,532,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5807:Atp9a
|
UTSW |
2 |
168,495,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5926:Atp9a
|
UTSW |
2 |
168,548,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Atp9a
|
UTSW |
2 |
168,476,790 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6244:Atp9a
|
UTSW |
2 |
168,531,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6307:Atp9a
|
UTSW |
2 |
168,510,090 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6345:Atp9a
|
UTSW |
2 |
168,518,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6442:Atp9a
|
UTSW |
2 |
168,491,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6459:Atp9a
|
UTSW |
2 |
168,509,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Atp9a
|
UTSW |
2 |
168,516,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Atp9a
|
UTSW |
2 |
168,496,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7271:Atp9a
|
UTSW |
2 |
168,576,047 (GRCm39) |
|
|
|
|
R7422:Atp9a
|
UTSW |
2 |
168,490,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Atp9a
|
UTSW |
2 |
168,517,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Atp9a
|
UTSW |
2 |
168,547,114 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7833:Atp9a
|
UTSW |
2 |
168,516,777 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7854:Atp9a
|
UTSW |
2 |
168,490,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7963:Atp9a
|
UTSW |
2 |
168,516,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Atp9a
|
UTSW |
2 |
168,517,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8904:Atp9a
|
UTSW |
2 |
168,547,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8914:Atp9a
|
UTSW |
2 |
168,479,420 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9129:Atp9a
|
UTSW |
2 |
168,517,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Atp9a
|
UTSW |
2 |
168,575,988 (GRCm39) |
intron |
probably benign |
|
|
R9171:Atp9a
|
UTSW |
2 |
168,485,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9189:Atp9a
|
UTSW |
2 |
168,518,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9299:Atp9a
|
UTSW |
2 |
168,554,666 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9303:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9305:Atp9a
|
UTSW |
2 |
168,517,163 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCAGGAGTTTGCCAGATG -3'
(R):5'- CAGGTGACAGTGAAGCTCTG -3'
Sequencing Primer
(F):5'- AGATGTGGCAGAGCACACCTTC -3'
(R):5'- CAGTGAAGCTCTGTCACTAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation