Incidental Mutation 'R5013:Atp11b'
ID |
390619 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
042604-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R5013 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 35888532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 934
(I934R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
AlphaFold |
Q6DFW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029257
AA Change: I934R
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: I934R
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 |
possibly damaging
Transcript: ENSMUST00000198599
AA Change: I734R
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: I734R
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (86/86) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,303,926 (GRCm39) |
L2117P |
probably damaging |
Het |
Ago3 |
A |
T |
4: 126,262,391 (GRCm39) |
S386R |
probably benign |
Het |
Agxt |
T |
C |
1: 93,069,779 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
Anxa1 |
A |
G |
19: 20,360,287 (GRCm39) |
V108A |
probably benign |
Het |
Aqp3 |
A |
G |
4: 41,093,819 (GRCm39) |
F225L |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,169,566 (GRCm39) |
L42Q |
probably damaging |
Het |
Bcr |
A |
G |
10: 74,960,898 (GRCm39) |
D443G |
probably benign |
Het |
Cbfa2t3 |
G |
T |
8: 123,365,598 (GRCm39) |
D211E |
possibly damaging |
Het |
Ccdc146 |
A |
T |
5: 21,538,036 (GRCm39) |
L96Q |
probably damaging |
Het |
Cdh16 |
A |
G |
8: 105,343,660 (GRCm39) |
I612T |
probably damaging |
Het |
Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajc2 |
G |
A |
5: 21,962,771 (GRCm39) |
R521* |
probably null |
Het |
Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
Eif1ad19 |
T |
A |
12: 87,740,512 (GRCm39) |
K16* |
probably null |
Het |
Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
Fbxw17 |
C |
T |
13: 50,586,506 (GRCm39) |
R403C |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
Gatd1 |
G |
T |
7: 140,988,861 (GRCm39) |
|
probably benign |
Het |
Gm10330 |
A |
T |
12: 23,829,961 (GRCm39) |
Y73* |
probably null |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,446,220 (GRCm39) |
E180K |
probably benign |
Het |
Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
Invs |
G |
A |
4: 48,421,807 (GRCm39) |
R813Q |
probably damaging |
Het |
Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
Lamtor3 |
A |
T |
3: 137,630,909 (GRCm39) |
R27S |
probably damaging |
Het |
Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,322,699 (GRCm39) |
D332G |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,382,493 (GRCm39) |
I1523T |
probably damaging |
Het |
Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
Nfix |
A |
G |
8: 85,498,713 (GRCm39) |
F87L |
possibly damaging |
Het |
Nup155 |
C |
A |
15: 8,153,722 (GRCm39) |
T421K |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,067 (GRCm39) |
N171K |
probably damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
Pds5a |
A |
C |
5: 65,792,680 (GRCm39) |
V751G |
probably benign |
Het |
Podnl1 |
G |
T |
8: 84,852,965 (GRCm39) |
C45F |
probably damaging |
Het |
Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,427,713 (GRCm39) |
I764N |
probably damaging |
Het |
Rbm33 |
A |
T |
5: 28,547,409 (GRCm39) |
Q193L |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,629,677 (GRCm39) |
H64Q |
probably damaging |
Het |
Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
Scamp3 |
A |
G |
3: 89,088,216 (GRCm39) |
|
probably benign |
Het |
Sema6b |
C |
T |
17: 56,439,497 (GRCm39) |
|
probably null |
Het |
Six4 |
A |
C |
12: 73,150,400 (GRCm39) |
I715R |
probably benign |
Het |
Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
Spdya |
A |
T |
17: 71,869,499 (GRCm39) |
Y98F |
possibly damaging |
Het |
Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
Tex22 |
G |
A |
12: 113,052,104 (GRCm39) |
C54Y |
probably damaging |
Het |
Tmem198b |
C |
T |
10: 128,637,942 (GRCm39) |
R207H |
probably damaging |
Het |
Trbv13-1 |
C |
T |
6: 41,093,189 (GRCm39) |
Q42* |
probably null |
Het |
Trcg1 |
T |
C |
9: 57,149,562 (GRCm39) |
L378P |
probably damaging |
Het |
Trpv5 |
T |
G |
6: 41,636,647 (GRCm39) |
D433A |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,545,702 (GRCm39) |
N654D |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Vwa7 |
A |
T |
17: 35,241,709 (GRCm39) |
Y448F |
probably damaging |
Het |
Zan |
A |
C |
5: 137,382,099 (GRCm39) |
D5149E |
unknown |
Het |
Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
Zhx1 |
G |
A |
15: 57,917,538 (GRCm39) |
T236I |
possibly 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 |
|
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'- TACAACAGTTTAAGGACAGAAGTGC -3'
Sequencing Primer
(F):5'- CCTGACCAACTTAAGAGTCTTGAG -3'
(R):5'- GAAGTGCTTATTCCTAAAAACACTGG -3'
|
Posted On |
2016-06-06 |