Incidental Mutation 'R1921:Atp11b'
ID |
213034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
039939-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R1921 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35888474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 715
(Y715H)
|
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: Y915H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: Y915H
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 |
probably benign
Transcript: ENSMUST00000197764
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198599
AA Change: Y715H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: Y715H
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211902
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.3%
|
Validation Efficiency |
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Abhd2 |
T |
C |
7: 78,998,104 (GRCm39) |
I212T |
possibly damaging |
Het |
Adam7 |
A |
C |
14: 68,750,074 (GRCm39) |
S449A |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,219,810 (GRCm39) |
Y1137H |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,836,971 (GRCm39) |
Y1145C |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,760,055 (GRCm39) |
I631T |
probably benign |
Het |
Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
Cptp |
C |
T |
4: 155,950,995 (GRCm39) |
R157H |
probably damaging |
Het |
Dcbld1 |
A |
C |
10: 52,195,747 (GRCm39) |
E318D |
possibly damaging |
Het |
Ddr2 |
G |
T |
1: 169,831,814 (GRCm39) |
P197Q |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,226,639 (GRCm39) |
Y421C |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,893,624 (GRCm39) |
K980E |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,782,644 (GRCm39) |
V3A |
unknown |
Het |
Dst |
T |
C |
1: 34,200,110 (GRCm39) |
V96A |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,018,752 (GRCm39) |
D548G |
possibly damaging |
Het |
Efcab10 |
A |
T |
12: 33,448,434 (GRCm39) |
Y89F |
probably benign |
Het |
Eif1ad |
CGAGGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGGAGG |
19: 5,420,086 (GRCm39) |
|
probably benign |
Het |
Entpd6 |
A |
G |
2: 150,600,732 (GRCm39) |
T147A |
probably damaging |
Het |
Fbxl5 |
T |
A |
5: 43,922,832 (GRCm39) |
E189D |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,497,080 (GRCm39) |
S1217T |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,560,916 (GRCm39) |
V1197D |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,127 (GRCm39) |
L2482* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,817,164 (GRCm39) |
D4299V |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
Hoxb1 |
T |
A |
11: 96,256,938 (GRCm39) |
Y96N |
probably damaging |
Het |
Ibsp |
A |
G |
5: 104,458,078 (GRCm39) |
E205G |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,585,135 (GRCm39) |
S1170P |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,893,801 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,639,877 (GRCm39) |
S954P |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,627,938 (GRCm39) |
F52L |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,353,631 (GRCm39) |
D543G |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,924,157 (GRCm39) |
T337A |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,946,465 (GRCm39) |
D1219N |
possibly damaging |
Het |
Mkln1 |
A |
G |
6: 31,405,113 (GRCm39) |
K118R |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,300,646 (GRCm39) |
|
probably null |
Het |
Neu2 |
A |
G |
1: 87,525,023 (GRCm39) |
E336G |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,538,543 (GRCm39) |
F448S |
probably damaging |
Het |
Nlrx1 |
C |
A |
9: 44,165,431 (GRCm39) |
E822* |
probably null |
Het |
Nr5a1 |
T |
C |
2: 38,584,108 (GRCm39) |
Y437C |
probably damaging |
Het |
Or4c119 |
A |
G |
2: 88,986,925 (GRCm39) |
V198A |
probably benign |
Het |
Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
Phtf1 |
C |
T |
3: 103,876,438 (GRCm39) |
Q13* |
probably null |
Het |
Pnldc1 |
A |
G |
17: 13,107,815 (GRCm39) |
L525P |
possibly damaging |
Het |
Ppl |
T |
A |
16: 4,923,988 (GRCm39) |
D162V |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,532,079 (GRCm39) |
S1448T |
possibly damaging |
Het |
Ptgdr |
A |
G |
14: 45,090,738 (GRCm39) |
I340T |
probably benign |
Het |
Recql |
T |
C |
6: 142,311,315 (GRCm39) |
I458M |
probably benign |
Het |
Rrbp1 |
A |
T |
2: 143,830,211 (GRCm39) |
V652E |
probably benign |
Het |
Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,754,369 (GRCm39) |
M3523T |
probably damaging |
Het |
S100a16 |
T |
C |
3: 90,449,703 (GRCm39) |
L62P |
probably damaging |
Het |
Samd11 |
T |
C |
4: 156,333,166 (GRCm39) |
E364G |
probably damaging |
Het |
Satb1 |
C |
A |
17: 52,049,143 (GRCm39) |
G603* |
probably null |
Het |
Shroom3 |
T |
A |
5: 93,110,224 (GRCm39) |
|
probably null |
Het |
Slc25a15 |
A |
G |
8: 22,885,777 (GRCm39) |
S3P |
probably benign |
Het |
Socs2 |
A |
T |
10: 95,248,900 (GRCm39) |
L71* |
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,054,469 (GRCm39) |
E2208G |
probably damaging |
Het |
St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
Susd1 |
T |
A |
4: 59,412,191 (GRCm39) |
T121S |
probably benign |
Het |
Svs3b |
A |
T |
2: 164,097,848 (GRCm39) |
S158T |
probably benign |
Het |
Synpo |
C |
T |
18: 60,736,661 (GRCm39) |
M428I |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Taar4 |
A |
G |
10: 23,837,239 (GRCm39) |
D283G |
probably damaging |
Het |
Tango6 |
T |
A |
8: 107,415,426 (GRCm39) |
D82E |
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,971,927 (GRCm39) |
T127A |
possibly damaging |
Het |
Tle3 |
G |
A |
9: 61,318,622 (GRCm39) |
|
probably null |
Het |
Tmem45a |
A |
G |
16: 56,642,665 (GRCm39) |
F169L |
probably benign |
Het |
Trp53rkb |
T |
A |
2: 166,637,743 (GRCm39) |
V233E |
probably damaging |
Het |
Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
Tubgcp3 |
A |
T |
8: 12,671,932 (GRCm39) |
L770* |
probably null |
Het |
Tut1 |
G |
A |
19: 8,943,466 (GRCm39) |
G851D |
probably benign |
Het |
Ubr1 |
G |
A |
2: 120,761,449 (GRCm39) |
T576I |
probably benign |
Het |
Vmn1r125 |
T |
A |
7: 21,006,530 (GRCm39) |
Y143N |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,831,839 (GRCm39) |
I317F |
probably benign |
Het |
Vmn2r95 |
T |
A |
17: 18,644,575 (GRCm39) |
N70K |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,432,971 (GRCm39) |
N568S |
probably damaging |
Het |
Wdr59 |
A |
T |
8: 112,213,582 (GRCm39) |
L311* |
probably null |
Het |
Wnt2 |
A |
G |
6: 18,030,252 (GRCm39) |
L12P |
unknown |
Het |
Xrn1 |
T |
C |
9: 95,881,550 (GRCm39) |
I700T |
probably benign |
Het |
Ypel1 |
A |
G |
16: 16,900,443 (GRCm39) |
H98R |
probably benign |
Het |
Zfp219 |
T |
C |
14: 52,245,691 (GRCm39) |
T434A |
probably benign |
Het |
Zik1 |
A |
C |
7: 10,223,943 (GRCm39) |
C385G |
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 |
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'- TGTTAACCTGTGCCACCCTG -3'
(R):5'- TGTACAACAGTTTAAGGACAGAAGTGC -3'
Sequencing Primer
(F):5'- CCTGACCAACTTAAGAGTCTTGAG -3'
(R):5'- GAAGTGCTTATTCCTAAAAACACTGG -3'
|
Posted On |
2014-07-14 |