Incidental Mutation 'R0582:Atp11a'
| ID |
56468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11a
|
| Ensembl Gene |
ENSMUSG00000031441 |
| Gene Name |
ATPase, class VI, type 11A |
| Synonyms |
4930558F19Rik, LOC100045280, 9130422H11Rik, Ih |
| MMRRC Submission |
038772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0582 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12807016-12918728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12881214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 451
(S451P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033818]
[ENSMUST00000091237]
[ENSMUST00000132974]
[ENSMUST00000133338]
|
| AlphaFold |
P98197 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033818
AA Change: S451P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: S451P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
25 |
96 |
3.6e-26 |
PFAM |
|
Pfam:E1-E2_ATPase
|
101 |
377 |
1.1e-12 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:HAD
|
411 |
837 |
9.9e-21 |
PFAM |
|
Pfam:Cation_ATPase
|
476 |
589 |
2.5e-11 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
854 |
1106 |
2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091237
AA Change: S451P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: S451P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
25 |
96 |
7.3e-26 |
PFAM |
|
Pfam:E1-E2_ATPase
|
101 |
377 |
2.7e-12 |
PFAM |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Pfam:HAD
|
411 |
837 |
1.9e-20 |
PFAM |
|
Pfam:Cation_ATPase
|
476 |
589 |
7.4e-11 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
854 |
1106 |
4.5e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132974
|
| SMART Domains |
Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_like2
|
1 |
42 |
2.6e-8 |
PFAM |
|
Pfam:HAD
|
17 |
290 |
4.1e-14 |
PFAM |
|
Pfam:Hydrolase
|
20 |
293 |
7.7e-13 |
PFAM |
|
transmembrane domain
|
420 |
442 |
N/A |
INTRINSIC |
|
transmembrane domain
|
454 |
476 |
N/A |
INTRINSIC |
|
transmembrane domain
|
491 |
513 |
N/A |
INTRINSIC |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133338
|
| SMART Domains |
Protein: ENSMUSP00000120625
Gene: ENSMUSG00000031441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
99 |
291 |
7.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147398
|
| Meta Mutation Damage Score |
0.0657 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
| Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
| Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
| Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
| Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
| Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
| Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
| Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
| Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
| Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
probably damaging |
Het |
|
| Other mutations in Atp11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Atp11a
|
APN |
8 |
12,894,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Atp11a
|
APN |
8 |
12,862,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Atp11a
|
APN |
8 |
12,901,138 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02113:Atp11a
|
APN |
8 |
12,915,048 (GRCm39) |
missense |
probably benign |
|
|
IGL02449:Atp11a
|
APN |
8 |
12,807,358 (GRCm39) |
splice site |
probably null |
|
|
IGL02550:Atp11a
|
APN |
8 |
12,866,997 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03099:Atp11a
|
APN |
8 |
12,877,462 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0139:Atp11a
|
UTSW |
8 |
12,896,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0265:Atp11a
|
UTSW |
8 |
12,906,930 (GRCm39) |
splice site |
probably benign |
|
|
R0294:Atp11a
|
UTSW |
8 |
12,877,524 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0331:Atp11a
|
UTSW |
8 |
12,866,953 (GRCm39) |
nonsense |
probably null |
|
|
R1033:Atp11a
|
UTSW |
8 |
12,878,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1213:Atp11a
|
UTSW |
8 |
12,892,859 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1551:Atp11a
|
UTSW |
8 |
12,862,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Atp11a
|
UTSW |
8 |
12,897,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Atp11a
|
UTSW |
8 |
12,863,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Atp11a
|
UTSW |
8 |
12,896,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Atp11a
|
UTSW |
8 |
12,862,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Atp11a
|
UTSW |
8 |
12,907,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Atp11a
|
UTSW |
8 |
12,885,228 (GRCm39) |
missense |
probably benign |
|
|
R2319:Atp11a
|
UTSW |
8 |
12,897,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Atp11a
|
UTSW |
8 |
12,897,853 (GRCm39) |
splice site |
probably null |
|
|
R4021:Atp11a
|
UTSW |
8 |
12,892,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4183:Atp11a
|
UTSW |
8 |
12,866,990 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4640:Atp11a
|
UTSW |
8 |
12,878,434 (GRCm39) |
splice site |
probably benign |
|
|
R4705:Atp11a
|
UTSW |
8 |
12,863,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Atp11a
|
UTSW |
8 |
12,856,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:Atp11a
|
UTSW |
8 |
12,882,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6152:Atp11a
|
UTSW |
8 |
12,896,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6171:Atp11a
|
UTSW |
8 |
12,882,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Atp11a
|
UTSW |
8 |
12,896,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6335:Atp11a
|
UTSW |
8 |
12,909,481 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6526:Atp11a
|
UTSW |
8 |
12,914,999 (GRCm39) |
missense |
probably benign |
|
|
R6792:Atp11a
|
UTSW |
8 |
12,911,939 (GRCm39) |
unclassified |
probably benign |
|
|
R6923:Atp11a
|
UTSW |
8 |
12,906,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6959:Atp11a
|
UTSW |
8 |
12,870,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Atp11a
|
UTSW |
8 |
12,856,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7499:Atp11a
|
UTSW |
8 |
12,882,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7606:Atp11a
|
UTSW |
8 |
12,894,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7844:Atp11a
|
UTSW |
8 |
12,901,039 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8099:Atp11a
|
UTSW |
8 |
12,911,973 (GRCm39) |
missense |
|
|
|
R8479:Atp11a
|
UTSW |
8 |
12,892,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8546:Atp11a
|
UTSW |
8 |
12,901,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Atp11a
|
UTSW |
8 |
12,875,721 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8896:Atp11a
|
UTSW |
8 |
12,899,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Atp11a
|
UTSW |
8 |
12,878,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Atp11a
|
UTSW |
8 |
12,863,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Atp11a
|
UTSW |
8 |
12,867,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9483:Atp11a
|
UTSW |
8 |
12,901,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9492:Atp11a
|
UTSW |
8 |
12,894,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Atp11a
|
UTSW |
8 |
12,877,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9679:Atp11a
|
UTSW |
8 |
12,909,388 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0017:Atp11a
|
UTSW |
8 |
12,876,323 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0022:Atp11a
|
UTSW |
8 |
12,897,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGACTCAGAAATTCCTGTCCCAC -3'
(R):5'- GAATCACTGTCAAGACCTCCTGCC -3'
Sequencing Primer
(F):5'- CTGTCCCACTAGGGTTGTAATAGAC -3'
(R):5'- CCCTTGGAAGGGGACACAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation