Incidental Mutation 'R8904:Atp9a'
| ID |
678359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp9a
|
| Ensembl Gene |
ENSMUSG00000027546 |
| Gene Name |
ATPase, class II, type 9A |
| Synonyms |
IIa, Class II |
| MMRRC Submission |
068761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
168476358-168584290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 168547097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 186
(Y186N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029060]
[ENSMUST00000109175]
[ENSMUST00000109176]
[ENSMUST00000109177]
[ENSMUST00000123156]
[ENSMUST00000151610]
[ENSMUST00000156397]
[ENSMUST00000156555]
[ENSMUST00000178504]
|
| AlphaFold |
O70228 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029060
AA Change: Y128N
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029060
Gene: ENSMUSG00000027546
AA Change: Y128N
| 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: Y112N
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104804
Gene: ENSMUSG00000027546
AA Change: Y112N
| 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: Y186N
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104805
Gene: ENSMUSG00000027546
AA Change: Y186N
| 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 |
probably benign
Transcript: ENSMUST00000109177
AA Change: Y110N
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104806
Gene: ENSMUSG00000027546
AA Change: Y110N
| 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 |
possibly damaging
Transcript: ENSMUST00000123156
AA Change: Y107N
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114868
Gene: ENSMUSG00000027546
AA Change: Y107N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
29 |
112 |
8e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151610
AA Change: Y32N
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121364
Gene: ENSMUSG00000027546
AA Change: Y32N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156397
AA Change: Y161N
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119732
Gene: ENSMUSG00000027546
AA Change: Y161N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
83 |
189 |
6e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156555
|
| SMART Domains |
Protein: ENSMUSP00000119315
Gene: ENSMUSG00000027546
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
28 |
87 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178504
AA Change: Y128N
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136793
Gene: ENSMUSG00000027546
AA Change: Y128N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA |
CCGGA |
16: 21,472,148 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
T |
G |
11: 7,059,075 (GRCm39) |
L327R |
probably damaging |
Het |
| Ajm1 |
A |
T |
2: 25,467,914 (GRCm39) |
S666T |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,469,861 (GRCm39) |
Q624R |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,988,374 (GRCm39) |
T106A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,967,474 (GRCm39) |
I514F |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,804,866 (GRCm39) |
T30A |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,622 (GRCm39) |
N21I |
possibly damaging |
Het |
| Cachd1 |
G |
A |
4: 100,810,363 (GRCm39) |
D322N |
probably damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,411,197 (GRCm39) |
E402G |
probably damaging |
Het |
| Ccl27a |
A |
T |
4: 41,774,194 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
C |
6: 122,990,836 (GRCm39) |
|
probably benign |
Het |
| Clic5 |
A |
T |
17: 44,552,992 (GRCm39) |
K82M |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,430,423 (GRCm39) |
S566T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,022,816 (GRCm39) |
E318G |
|
Het |
| Entpd8 |
A |
C |
2: 24,973,575 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,547,936 (GRCm39) |
F156L |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,369,067 (GRCm39) |
M819K |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,696,654 (GRCm39) |
R168G |
possibly damaging |
Het |
| Fbxw10 |
C |
A |
11: 62,765,831 (GRCm39) |
Y700* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,929,138 (GRCm39) |
R3847S |
probably benign |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gpr150 |
G |
T |
13: 76,204,528 (GRCm39) |
S139* |
probably null |
Het |
| Grm1 |
A |
T |
10: 10,595,281 (GRCm39) |
N782K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,323,404 (GRCm39) |
S4173G |
possibly damaging |
Het |
| Hmx1 |
T |
A |
5: 35,549,511 (GRCm39) |
V268D |
probably damaging |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,685 (GRCm39) |
T33A |
possibly damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,212,194 (GRCm39) |
T161A |
probably damaging |
Het |
| Igll1 |
A |
T |
16: 16,681,576 (GRCm39) |
W60R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,893 (GRCm39) |
T593A |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,824 (GRCm39) |
D1393G |
possibly damaging |
Het |
| Krt36 |
A |
G |
11: 99,996,173 (GRCm39) |
F84L |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,385 (GRCm39) |
S266P |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,744,173 (GRCm39) |
V163A |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,284 (GRCm39) |
T104A |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,301,263 (GRCm39) |
L534P |
|
Het |
| Myo3b |
C |
A |
2: 70,257,252 (GRCm39) |
H1317N |
probably benign |
Het |
| Nkx2-6 |
A |
G |
14: 69,409,420 (GRCm39) |
D57G |
probably benign |
Het |
| Or1ab2 |
A |
G |
8: 72,864,276 (GRCm39) |
I289V |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,192 (GRCm39) |
V30A |
probably benign |
Het |
| Or5d46 |
T |
G |
2: 88,169,949 (GRCm39) |
F13L |
possibly damaging |
Het |
| Or5p79 |
A |
G |
7: 108,221,919 (GRCm39) |
N300S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,665 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,760 (GRCm39) |
D155E |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,047,607 (GRCm39) |
H523Q |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,156,128 (GRCm39) |
S148T |
possibly damaging |
Het |
| Pign |
G |
A |
1: 105,519,359 (GRCm39) |
A521V |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,060,183 (GRCm39) |
M1536V |
possibly damaging |
Het |
| Prg4 |
C |
A |
1: 150,331,810 (GRCm39) |
A288S |
possibly damaging |
Het |
| Prim2 |
A |
T |
1: 33,669,513 (GRCm39) |
I154N |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,545,590 (GRCm39) |
V1902A |
probably benign |
Het |
| Prss40 |
C |
T |
1: 34,595,045 (GRCm39) |
|
probably benign |
Het |
| Ret |
C |
T |
6: 118,157,174 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,402,436 (GRCm39) |
L199P |
possibly damaging |
Het |
| Sema4d |
A |
T |
13: 51,854,935 (GRCm39) |
L54* |
probably null |
Het |
| Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,394,714 (GRCm39) |
F519S |
probably damaging |
Het |
| Tnfsf11 |
C |
T |
14: 78,516,119 (GRCm39) |
R283Q |
possibly damaging |
Het |
| Tril |
C |
T |
6: 53,797,202 (GRCm39) |
V7M |
possibly damaging |
Het |
| Tsr1 |
T |
A |
11: 74,790,217 (GRCm39) |
Y137* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,042,153 (GRCm39) |
S148P |
|
Het |
| Unc13b |
A |
G |
4: 43,178,531 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
G |
7: 12,223,506 (GRCm39) |
T64A |
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 |
|
R4661:Atp9a
|
UTSW |
2 |
168,479,592 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
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'- GGAAGCAGCCTGAGCCTG -3'
(R):5'- TCTCGGTTGTCACAGATGAAG -3'
Sequencing Primer
(F):5'- AGCCTGAGCCTGCCCTC -3'
(R):5'- TCCATTATCATCAAGGCGGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation