Incidental Mutation 'R4714:Atp11b'
ID |
353421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
041956-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R4714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35888543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 738
(V738I)
|
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: V938I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: V938I
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 benign
Transcript: ENSMUST00000198599
AA Change: V738I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: V738I
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4930486L24Rik |
A |
G |
13: 60,992,132 (GRCm39) |
V298A |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,360,609 (GRCm39) |
V534A |
probably benign |
Het |
Abcb4 |
A |
G |
5: 8,980,906 (GRCm39) |
|
probably null |
Het |
Adam30 |
A |
T |
3: 98,070,170 (GRCm39) |
S668C |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,556,252 (GRCm39) |
V196D |
probably damaging |
Het |
Cast |
C |
T |
13: 74,946,834 (GRCm39) |
V27I |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,651,780 (GRCm39) |
I3090T |
probably benign |
Het |
Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
Champ1 |
T |
C |
8: 13,928,063 (GRCm39) |
Y74H |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,511,890 (GRCm39) |
I278T |
probably damaging |
Het |
Dcaf15 |
T |
C |
8: 84,828,845 (GRCm39) |
T141A |
probably benign |
Het |
Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
Defb8 |
A |
G |
8: 19,497,575 (GRCm39) |
L12P |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,609,079 (GRCm39) |
I225F |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,118,932 (GRCm39) |
H2178N |
possibly damaging |
Het |
Enam |
A |
G |
5: 88,651,395 (GRCm39) |
E893G |
probably damaging |
Het |
Flt4 |
T |
A |
11: 49,518,034 (GRCm39) |
L358Q |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,785 (GRCm39) |
Q1202R |
probably benign |
Het |
Ghr |
T |
A |
15: 3,349,879 (GRCm39) |
D433V |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,057,383 (GRCm39) |
D328N |
possibly damaging |
Het |
Haus4 |
T |
C |
14: 54,779,577 (GRCm39) |
D349G |
probably benign |
Het |
Helz |
T |
C |
11: 107,517,542 (GRCm39) |
|
probably null |
Het |
Hif3a |
A |
G |
7: 16,790,196 (GRCm39) |
L69P |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,563 (GRCm39) |
E233G |
probably damaging |
Het |
Kcnc2 |
T |
C |
10: 112,291,733 (GRCm39) |
F307S |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 41,000,771 (GRCm39) |
V2151E |
possibly damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,454 (GRCm39) |
N92S |
probably damaging |
Het |
Metrnl |
C |
T |
11: 121,606,839 (GRCm39) |
A216V |
probably damaging |
Het |
Msh2 |
A |
G |
17: 88,026,217 (GRCm39) |
T732A |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,194,334 (GRCm39) |
L270P |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,804,157 (GRCm39) |
K74E |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,871,537 (GRCm39) |
L702Q |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,703,047 (GRCm39) |
I19N |
probably benign |
Het |
Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
Or4k1 |
A |
G |
14: 50,377,436 (GRCm39) |
I220T |
possibly damaging |
Het |
Or4k6 |
C |
A |
14: 50,475,824 (GRCm39) |
V173L |
possibly damaging |
Het |
Or6c216 |
A |
T |
10: 129,678,814 (GRCm39) |
N32K |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,525,745 (GRCm39) |
H376R |
possibly damaging |
Het |
Pnkd |
C |
T |
1: 74,390,941 (GRCm39) |
R376C |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,342,696 (GRCm39) |
F484S |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,782,573 (GRCm39) |
H909Q |
probably benign |
Het |
Rasip1 |
CGG |
CGGG |
7: 45,281,820 (GRCm39) |
|
probably null |
Het |
Rbm47 |
A |
T |
5: 66,182,395 (GRCm39) |
Y413N |
probably damaging |
Het |
Rnf123 |
A |
G |
9: 107,929,638 (GRCm39) |
|
probably null |
Het |
Ruvbl1 |
T |
A |
6: 88,461,412 (GRCm39) |
M259K |
possibly damaging |
Het |
Sohlh2 |
A |
G |
3: 55,097,950 (GRCm39) |
H134R |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,248,330 (GRCm39) |
D447G |
possibly damaging |
Het |
Tank |
C |
T |
2: 61,480,573 (GRCm39) |
P370S |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,544,131 (GRCm39) |
E2049G |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,648,226 (GRCm39) |
H426R |
possibly damaging |
Het |
Trpm6 |
C |
A |
19: 18,831,564 (GRCm39) |
S1476R |
possibly damaging |
Het |
Trpm7 |
G |
A |
2: 126,682,703 (GRCm39) |
Q389* |
probably null |
Het |
Ttc28 |
G |
A |
5: 111,433,095 (GRCm39) |
R2043Q |
possibly damaging |
Het |
Tymp |
A |
G |
15: 89,260,510 (GRCm39) |
S103P |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,894,901 (GRCm39) |
|
probably null |
Het |
Vmn1r202 |
T |
A |
13: 22,685,977 (GRCm39) |
N147Y |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,688 (GRCm39) |
S64P |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,727,220 (GRCm39) |
D229E |
probably benign |
Het |
Vps52 |
A |
G |
17: 34,180,153 (GRCm39) |
I354V |
probably benign |
Het |
Zbtb8os |
T |
C |
4: 129,235,557 (GRCm39) |
F90L |
probably damaging |
Het |
Zfp36l1 |
T |
C |
12: 80,157,270 (GRCm39) |
D37G |
possibly damaging |
Het |
Zfp467 |
A |
G |
6: 48,404,751 (GRCm39) |
S109P |
unknown |
Het |
Zzef1 |
T |
A |
11: 72,728,038 (GRCm39) |
C535S |
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 |
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 |
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'- CCCTGACCAACTTAAGAGTCTTG -3'
(R):5'- TACAACAGTTTAAGGACAGAAGTGC -3'
Sequencing Primer
(F):5'- CTGACCAACTTAAGAGTCTTGAGATG -3'
(R):5'- GAAGTGCTTATTCCTAAAAACACTGG -3'
|
Posted On |
2015-10-21 |