Incidental Mutation 'R2273:Atp11b'
ID |
242630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
040273-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R2273 (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 35882762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 606
(I606V)
|
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: I806V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: I806V
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: I606V
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: I606V
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
Arhgef7 |
T |
A |
8: 11,865,010 (GRCm39) |
F374Y |
possibly damaging |
Het |
Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,268,601 (GRCm39) |
E1200K |
probably damaging |
Het |
Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
Cecr2 |
C |
T |
6: 120,733,702 (GRCm39) |
S563L |
probably benign |
Het |
Cfh |
C |
T |
1: 140,030,563 (GRCm39) |
V824M |
probably damaging |
Het |
Ciapin1 |
A |
T |
8: 95,558,415 (GRCm39) |
V99E |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
Crim1 |
T |
C |
17: 78,662,608 (GRCm39) |
|
probably null |
Het |
D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,826,558 (GRCm39) |
T4465A |
probably benign |
Het |
Fdxacb1 |
A |
G |
9: 50,683,321 (GRCm39) |
E428G |
probably benign |
Het |
Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,008,187 (GRCm39) |
M1595T |
probably benign |
Het |
Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
Ift88 |
A |
G |
14: 57,726,393 (GRCm39) |
K684E |
possibly damaging |
Het |
Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
Kcnc1 |
A |
G |
7: 46,077,226 (GRCm39) |
N343D |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
Lrig1 |
A |
T |
6: 94,585,124 (GRCm39) |
D840E |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,892,696 (GRCm39) |
S318P |
probably damaging |
Het |
Map1b |
A |
C |
13: 99,568,592 (GRCm39) |
D1376E |
unknown |
Het |
Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
Mrc1 |
G |
A |
2: 14,330,183 (GRCm39) |
R1264Q |
probably damaging |
Het |
Nrarp |
T |
C |
2: 25,071,421 (GRCm39) |
V100A |
possibly damaging |
Het |
Nt5c1a |
T |
C |
4: 123,109,873 (GRCm39) |
F324S |
probably damaging |
Het |
Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
Or5g29 |
G |
T |
2: 85,420,932 (GRCm39) |
G16V |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
Pcdhb4 |
C |
T |
18: 37,441,979 (GRCm39) |
L430F |
probably damaging |
Het |
Ptpn2 |
T |
G |
18: 67,810,872 (GRCm39) |
M256L |
probably damaging |
Het |
Rph3a |
C |
T |
5: 121,111,367 (GRCm39) |
R71H |
probably damaging |
Het |
Rrm2b |
T |
A |
15: 37,945,295 (GRCm39) |
D148V |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
Sult1d1 |
T |
G |
5: 87,703,887 (GRCm39) |
N266T |
probably damaging |
Het |
Tjp2 |
G |
T |
19: 24,090,171 (GRCm39) |
H624N |
probably benign |
Het |
Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
Vldlr |
A |
T |
19: 27,225,415 (GRCm39) |
T859S |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,593 (GRCm39) |
M273L |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,856,629 (GRCm39) |
Y570H |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,686,565 (GRCm39) |
S645G |
probably benign |
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 |
|
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'- CCTCTGAAAGTGAACCTTATTGC -3'
(R):5'- GGGGATACATTGTCATGTAATGTCAC -3'
Sequencing Primer
(F):5'- GCATCTAGCATGGAGTTAAATGTC -3'
(R):5'- CTGGACATTGTACTTTACCAA -3'
|
Posted On |
2014-10-16 |