Incidental Mutation 'IGL02991:Atp11b'
ID |
452907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
IGL02991 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35881140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 566
(T566A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142676
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
AlphaFold |
Q6DFW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029257
AA Change: T766A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: T766A
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: ENSMUST00000196700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197003
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198599
AA Change: T566A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: T566A
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 |
noncoding transcript
Transcript: ENSMUST00000200445
|
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
95% (73/77) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Adam23 |
T |
C |
1: 63,586,978 (GRCm39) |
|
probably null |
Het |
Aptx |
C |
A |
4: 40,686,687 (GRCm39) |
G199C |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,299,294 (GRCm39) |
|
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,348,713 (GRCm39) |
Q202* |
probably null |
Het |
Cacna1h |
C |
A |
17: 25,610,286 (GRCm39) |
R740L |
possibly damaging |
Het |
Casp8 |
T |
A |
1: 58,866,438 (GRCm39) |
N146K |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,246,275 (GRCm39) |
M549V |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,861,972 (GRCm39) |
S51P |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,828,398 (GRCm39) |
M1113T |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
ACC |
AC |
1: 139,164,822 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Cxcl11 |
C |
T |
5: 92,509,169 (GRCm39) |
R28H |
probably damaging |
Het |
Defb40 |
C |
T |
8: 19,025,119 (GRCm39) |
C29Y |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Fen1 |
A |
T |
19: 10,178,026 (GRCm39) |
D139E |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,395,511 (GRCm39) |
E1846G |
probably damaging |
Het |
Gria2 |
T |
A |
3: 80,615,116 (GRCm39) |
K455* |
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,614,409 (GRCm39) |
N1332K |
possibly damaging |
Het |
Htr5b |
C |
T |
1: 121,455,756 (GRCm39) |
V55M |
probably benign |
Het |
Ighv6-5 |
A |
T |
12: 114,380,315 (GRCm39) |
N86K |
probably benign |
Het |
Il4ra |
T |
C |
7: 125,174,833 (GRCm39) |
V347A |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,256,162 (GRCm39) |
E876G |
probably benign |
Het |
Itpkb |
A |
T |
1: 180,155,279 (GRCm39) |
|
probably benign |
Het |
Lbr |
T |
C |
1: 181,649,117 (GRCm39) |
Y334C |
probably damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,732 (GRCm39) |
L271P |
probably damaging |
Het |
Lss |
T |
A |
10: 76,379,745 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
C |
2: 121,132,091 (GRCm39) |
V731A |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mob3b |
T |
A |
4: 35,083,805 (GRCm39) |
Q128L |
probably benign |
Het |
Mog |
T |
C |
17: 37,334,091 (GRCm39) |
M1V |
probably null |
Het |
Mrpl4 |
A |
G |
9: 20,919,901 (GRCm39) |
Y284C |
probably damaging |
Het |
Mtus2 |
T |
G |
5: 148,250,310 (GRCm39) |
V310G |
probably damaging |
Het |
Mup11 |
ACAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCA |
4: 60,618,275 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
G |
11: 100,444,698 (GRCm39) |
S285G |
probably benign |
Het |
Or10g9 |
T |
C |
9: 39,911,698 (GRCm39) |
Y275C |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,785,362 (GRCm39) |
S264T |
probably benign |
Het |
Orc3 |
T |
G |
4: 34,593,083 (GRCm39) |
Q328P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,658,388 (GRCm39) |
S211G |
possibly damaging |
Het |
Pcdhb20 |
G |
T |
18: 37,639,264 (GRCm39) |
G597C |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,675,260 (GRCm39) |
I334T |
probably damaging |
Het |
Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
Proz |
G |
A |
8: 13,123,490 (GRCm39) |
E254K |
probably benign |
Het |
Psma6 |
T |
C |
12: 55,454,357 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,776,192 (GRCm39) |
V1115A |
probably damaging |
Het |
Sfxn5 |
G |
T |
6: 85,266,190 (GRCm39) |
N102K |
possibly damaging |
Het |
Sgo2a |
G |
T |
1: 58,054,514 (GRCm39) |
|
probably benign |
Het |
Slc14a2 |
A |
T |
18: 78,249,049 (GRCm39) |
M1K |
probably null |
Het |
Spag5 |
T |
A |
11: 78,205,077 (GRCm39) |
L621M |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,068,533 (GRCm39) |
Y227C |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Supt6 |
T |
C |
11: 78,116,179 (GRCm39) |
E728G |
probably damaging |
Het |
Sympk |
T |
A |
7: 18,764,502 (GRCm39) |
L69Q |
probably damaging |
Het |
Timd4 |
T |
A |
11: 46,732,974 (GRCm39) |
|
probably benign |
Het |
Trh |
G |
A |
6: 92,220,719 (GRCm39) |
R48W |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,716,536 (GRCm39) |
D383Y |
probably damaging |
Het |
Tspo2 |
T |
A |
17: 48,757,014 (GRCm39) |
I23F |
possibly damaging |
Het |
Tspyl5 |
A |
G |
15: 33,686,989 (GRCm39) |
S319P |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,717,201 (GRCm39) |
K403E |
probably damaging |
Het |
Vmn2r34 |
C |
A |
7: 7,675,720 (GRCm39) |
C556F |
probably damaging |
Het |
Vps13c |
C |
A |
9: 67,821,159 (GRCm39) |
A1223E |
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 |
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 |
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'- TCAGGTAATACAACTGAGTTTGTTCAC -3'
(R):5'- GCCCTAGGTTGAAGCTGATTAAC -3'
Sequencing Primer
(F):5'- ACAACTGAGTTTGTTCACTTACAC -3'
(R):5'- TCTCTCCCTTCCTTCCTTAAGAG -3'
|
Posted On |
2017-01-24 |