Incidental Mutation 'R7016:Atp11b'
| ID |
545294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
045117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35895185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 908
(S908P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
| AlphaFold |
Q6DFW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029257
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
21 |
90 |
2.4e-24 |
PFAM |
|
Pfam:E1-E2_ATPase
|
95 |
369 |
5.4e-13 |
PFAM |
|
Pfam:Hydrolase
|
401 |
757 |
1.5e-10 |
PFAM |
|
Pfam:HAD
|
404 |
829 |
5.9e-20 |
PFAM |
|
Pfam:Cation_ATPase
|
492 |
605 |
7.1e-13 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
846 |
1099 |
1.5e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198599
AA Change: S908P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: S908P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
107 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase
|
201 |
632 |
3e-17 |
PFAM |
|
Pfam:HAD
|
204 |
629 |
4e-16 |
PFAM |
|
Pfam:Hydrolase_like2
|
292 |
405 |
1.2e-13 |
PFAM |
|
low complexity region
|
833 |
848 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,219,742 (GRCm39) |
M710L |
possibly damaging |
Het |
| Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
| Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
| Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
| Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
| Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
| Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
| Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
| Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
| Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
| Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
| Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
| Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
| Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
| Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
| Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
| Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
| Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
| Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
| Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
| Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
| St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
| Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
| Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,443,977 (GRCm39) |
D2G |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,300,583 (GRCm39) |
E960G |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
| Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
probably damaging |
Het |
|
| Other mutations in Atp11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Atp11b
|
APN |
3 |
35,863,525 (GRCm39) |
splice site |
probably null |
|
|
IGL00722:Atp11b
|
APN |
3 |
35,874,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00725:Atp11b
|
APN |
3 |
35,881,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01514:Atp11b
|
APN |
3 |
35,891,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Atp11b
|
APN |
3 |
35,903,651 (GRCm39) |
nonsense |
probably null |
|
|
IGL01789:Atp11b
|
APN |
3 |
35,843,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01915:Atp11b
|
APN |
3 |
35,885,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Atp11b
|
APN |
3 |
35,868,301 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02049:Atp11b
|
APN |
3 |
35,854,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02952:Atp11b
|
APN |
3 |
35,882,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Atp11b
|
UTSW |
3 |
35,881,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0044:Atp11b
|
UTSW |
3 |
35,866,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0254:Atp11b
|
UTSW |
3 |
35,866,259 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0538:Atp11b
|
UTSW |
3 |
35,891,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Atp11b
|
UTSW |
3 |
35,861,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0653:Atp11b
|
UTSW |
3 |
35,893,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0790:Atp11b
|
UTSW |
3 |
35,887,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1083:Atp11b
|
UTSW |
3 |
35,832,162 (GRCm39) |
splice site |
probably benign |
|
|
R1371:Atp11b
|
UTSW |
3 |
35,860,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1458:Atp11b
|
UTSW |
3 |
35,843,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Atp11b
|
UTSW |
3 |
35,893,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Atp11b
|
UTSW |
3 |
35,888,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Atp11b
|
UTSW |
3 |
35,909,271 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2065:Atp11b
|
UTSW |
3 |
35,893,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Atp11b
|
UTSW |
3 |
35,891,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Atp11b
|
UTSW |
3 |
35,861,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Atp11b
|
UTSW |
3 |
35,864,283 (GRCm39) |
splice site |
probably null |
|
|
R2273:Atp11b
|
UTSW |
3 |
35,882,762 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2439:Atp11b
|
UTSW |
3 |
35,868,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2497:Atp11b
|
UTSW |
3 |
35,909,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4181:Atp11b
|
UTSW |
3 |
35,854,714 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4181:Atp11b
|
UTSW |
3 |
35,843,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Atp11b
|
UTSW |
3 |
35,888,543 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4923:Atp11b
|
UTSW |
3 |
35,889,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4937:Atp11b
|
UTSW |
3 |
35,861,157 (GRCm39) |
splice site |
probably null |
|
|
R5013:Atp11b
|
UTSW |
3 |
35,888,532 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5058:Atp11b
|
UTSW |
3 |
35,863,510 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5171:Atp11b
|
UTSW |
3 |
35,887,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5200:Atp11b
|
UTSW |
3 |
35,891,156 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5465:Atp11b
|
UTSW |
3 |
35,864,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5651:Atp11b
|
UTSW |
3 |
35,909,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Atp11b
|
UTSW |
3 |
35,888,501 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5718:Atp11b
|
UTSW |
3 |
35,891,665 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5807:Atp11b
|
UTSW |
3 |
35,866,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Atp11b
|
UTSW |
3 |
35,891,696 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6059:Atp11b
|
UTSW |
3 |
35,868,326 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6259:Atp11b
|
UTSW |
3 |
35,861,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Atp11b
|
UTSW |
3 |
35,832,210 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6367:Atp11b
|
UTSW |
3 |
35,838,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Atp11b
|
UTSW |
3 |
35,893,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6818:Atp11b
|
UTSW |
3 |
35,868,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7178:Atp11b
|
UTSW |
3 |
35,874,099 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7614:Atp11b
|
UTSW |
3 |
35,864,259 (GRCm39) |
splice site |
probably null |
|
|
R7729:Atp11b
|
UTSW |
3 |
35,832,256 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7910:Atp11b
|
UTSW |
3 |
35,885,652 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7967:Atp11b
|
UTSW |
3 |
35,895,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8085:Atp11b
|
UTSW |
3 |
35,895,185 (GRCm39) |
missense |
probably benign |
|
|
R8095:Atp11b
|
UTSW |
3 |
35,888,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Atp11b
|
UTSW |
3 |
35,864,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8672:Atp11b
|
UTSW |
3 |
35,874,066 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9046:Atp11b
|
UTSW |
3 |
35,852,740 (GRCm39) |
splice site |
probably benign |
|
|
R9047:Atp11b
|
UTSW |
3 |
35,861,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9065:Atp11b
|
UTSW |
3 |
35,887,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9713:Atp11b
|
UTSW |
3 |
35,885,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Atp11b
|
UTSW |
3 |
35,903,621 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9761:Atp11b
|
UTSW |
3 |
35,903,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Atp11b
|
UTSW |
3 |
35,903,607 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Atp11b
|
UTSW |
3 |
35,866,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atp11b
|
UTSW |
3 |
35,861,003 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCAGCAGTTGTCTAAG -3'
(R):5'- AGAGCTGTGCATGCTTGACTC -3'
Sequencing Primer
(F):5'- CAGTAAATTTTCTTATGGCAAGGC -3'
(R):5'- GCATGCTTGACTCTTTATTGATGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation