Incidental Mutation 'R1875:Atp11b'
ID |
211115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
039897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R1875 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35893296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 883
(L883P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
AlphaFold |
Q6DFW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029257
AA Change: L1083P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: L1083P
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 |
noncoding transcript
Transcript: ENSMUST00000196409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196700
|
Predicted Effect |
unknown
Transcript: ENSMUST00000197764
AA Change: L31P
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198599
AA Change: L883P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: L883P
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 |
unknown
Transcript: ENSMUST00000211902
AA Change: L33P
|
Meta Mutation Damage Score |
0.9263 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
98% (85/87) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,847,190 (GRCm39) |
M685L |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Adam26a |
C |
A |
8: 44,022,888 (GRCm39) |
V201L |
probably benign |
Het |
Adamts20 |
G |
T |
15: 94,229,277 (GRCm39) |
D947E |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,410 (GRCm39) |
|
probably null |
Het |
Apol11a |
C |
A |
15: 77,397,766 (GRCm39) |
T39N |
possibly damaging |
Het |
Arhgef38 |
T |
A |
3: 132,839,501 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,919,815 (GRCm39) |
D772G |
probably damaging |
Het |
Btnl10 |
T |
A |
11: 58,814,586 (GRCm39) |
I422N |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,056,232 (GRCm39) |
K547E |
possibly damaging |
Het |
Cdh2 |
T |
A |
18: 16,757,934 (GRCm39) |
L549F |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,713,037 (GRCm39) |
V1825A |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,881,389 (GRCm39) |
I358V |
probably benign |
Het |
Cimap2 |
G |
A |
4: 106,470,453 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
T |
C |
8: 15,979,101 (GRCm39) |
K2828E |
probably damaging |
Het |
Ddah2 |
T |
C |
17: 35,279,821 (GRCm39) |
F137S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,429,847 (GRCm39) |
I299T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,691 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,843,151 (GRCm39) |
I9T |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,036,290 (GRCm39) |
E242G |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,410,335 (GRCm39) |
H641R |
possibly damaging |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Fli1 |
T |
C |
9: 32,335,209 (GRCm39) |
M408V |
probably benign |
Het |
Fmo4 |
T |
C |
1: 162,631,187 (GRCm39) |
N260S |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,249,597 (GRCm39) |
E136G |
probably damaging |
Het |
Gm10477 |
T |
A |
X: 55,570,127 (GRCm39) |
F9Y |
probably damaging |
Het |
Gm8258 |
A |
G |
5: 104,924,320 (GRCm39) |
|
noncoding transcript |
Het |
Gpr68 |
T |
A |
12: 100,845,049 (GRCm39) |
D165V |
probably damaging |
Het |
Htt |
T |
A |
5: 34,951,456 (GRCm39) |
M139K |
probably benign |
Het |
Jup |
A |
G |
11: 100,263,120 (GRCm39) |
|
probably null |
Het |
Kifc5b |
G |
A |
17: 27,136,264 (GRCm39) |
|
probably null |
Het |
Krba1 |
T |
A |
6: 48,390,983 (GRCm39) |
|
probably null |
Het |
Lamp1 |
G |
A |
8: 13,217,257 (GRCm39) |
G89R |
probably damaging |
Het |
Lrrc17 |
C |
T |
5: 21,765,650 (GRCm39) |
S44F |
possibly damaging |
Het |
Mdga1 |
T |
C |
17: 30,071,581 (GRCm39) |
T347A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,019,025 (GRCm39) |
W66R |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,314,026 (GRCm39) |
Y73H |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,364 (GRCm39) |
I335N |
possibly damaging |
Het |
Mylk3 |
A |
G |
8: 86,079,494 (GRCm39) |
I388T |
probably damaging |
Het |
Myo15a |
C |
T |
11: 60,398,354 (GRCm39) |
R2775W |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
Ndrg1 |
T |
C |
15: 66,802,940 (GRCm39) |
T137A |
possibly damaging |
Het |
Neil3 |
G |
T |
8: 54,052,454 (GRCm39) |
N381K |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,877 (GRCm39) |
Y841C |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,115,996 (GRCm39) |
|
probably benign |
Het |
Or6b6 |
G |
A |
7: 106,571,389 (GRCm39) |
S54F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,735,451 (GRCm39) |
D111G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,127,051 (GRCm39) |
E103G |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
Pcdh18 |
A |
T |
3: 49,709,154 (GRCm39) |
F720L |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,869,704 (GRCm39) |
E448G |
possibly damaging |
Het |
Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 116,017,206 (GRCm39) |
S184T |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,794,670 (GRCm39) |
|
probably benign |
Het |
Plch2 |
G |
A |
4: 155,082,965 (GRCm39) |
S485F |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,955,045 (GRCm39) |
|
probably null |
Het |
Pnliprp2 |
G |
T |
19: 58,751,821 (GRCm39) |
V189L |
probably benign |
Het |
Prl8a2 |
T |
C |
13: 27,535,037 (GRCm39) |
V103A |
probably benign |
Het |
Psg23 |
G |
A |
7: 18,344,375 (GRCm39) |
T360I |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,279,469 (GRCm39) |
I323N |
probably damaging |
Het |
Rsbn1l |
C |
T |
5: 21,156,696 (GRCm39) |
E30K |
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,118,145 (GRCm39) |
L64F |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,356,502 (GRCm39) |
D392G |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,020,725 (GRCm39) |
I540L |
probably benign |
Het |
Slc37a4 |
A |
G |
9: 44,312,808 (GRCm39) |
T321A |
probably damaging |
Het |
Slc41a2 |
A |
G |
10: 83,091,949 (GRCm39) |
L438S |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,584,194 (GRCm39) |
E1624K |
probably damaging |
Het |
Spef2 |
C |
T |
15: 9,597,487 (GRCm39) |
G1390R |
possibly damaging |
Het |
Spmap2l |
A |
T |
5: 77,202,431 (GRCm39) |
K284M |
probably benign |
Het |
Synj2 |
G |
T |
17: 6,078,825 (GRCm39) |
A740S |
possibly damaging |
Het |
Tigd4 |
A |
C |
3: 84,502,394 (GRCm39) |
D437A |
probably benign |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem106a |
CAGCTCAACACGACGGTA |
CAGCTCAACACGACGGTAAGCTCAACACGACGGTA |
11: 101,477,204 (GRCm39) |
|
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,812,383 (GRCm39) |
C1313* |
probably null |
Het |
Tmem86b |
A |
T |
7: 4,632,698 (GRCm39) |
I47N |
possibly damaging |
Het |
Tspan13 |
T |
C |
12: 36,070,550 (GRCm39) |
|
probably null |
Het |
Vps54 |
A |
G |
11: 21,250,251 (GRCm39) |
T396A |
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,344,096 (GRCm39) |
|
probably null |
Het |
Zfp668 |
T |
C |
7: 127,465,654 (GRCm39) |
|
probably null |
Het |
Zfp809 |
A |
T |
9: 22,150,027 (GRCm39) |
R175* |
probably null |
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 |
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 |
R7016:Atp11b
|
UTSW |
3 |
35,895,185 (GRCm39) |
missense |
probably benign |
|
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'- ATTCCCTGGCACTCTTAAAGTTG -3'
(R):5'- TGCTGTAGTTTAGAGACATGGTCAC -3'
Sequencing Primer
(F):5'- AAACAGTGTCTCCCTATGTAGGC -3'
(R):5'- CTGTTCTAACTGAAGAGTTACTG -3'
|
Posted On |
2014-06-30 |