Incidental Mutation 'R5058:Atp11b'
ID |
391000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
042648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R5058 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35863510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 202
(E202G)
|
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: E402G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: E402G
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: ENSMUST00000196965
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198599
AA Change: E202G
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142676 Gene: ENSMUSG00000037400 AA Change: E202G
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 |
probably benign
Transcript: ENSMUST00000199892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200445
|
Meta Mutation Damage Score |
0.2784 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
Validation Efficiency |
100% (79/79) |
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 |
Adprhl1 |
T |
C |
8: 13,292,625 (GRCm39) |
Y222C |
probably damaging |
Het |
Adprs |
A |
G |
4: 126,212,238 (GRCm39) |
S94P |
probably damaging |
Het |
Cacna1d |
G |
T |
14: 29,836,201 (GRCm39) |
S849* |
probably null |
Het |
Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
Cbfa2t2 |
T |
A |
2: 154,346,665 (GRCm39) |
I124N |
probably damaging |
Het |
Ccdc13 |
A |
T |
9: 121,646,613 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
G |
A |
16: 44,240,567 (GRCm39) |
|
probably null |
Het |
Col17a1 |
C |
A |
19: 47,673,989 (GRCm39) |
E13* |
probably null |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dennd6b |
A |
G |
15: 89,071,553 (GRCm39) |
L288P |
possibly damaging |
Het |
Dhx37 |
A |
C |
5: 125,499,295 (GRCm39) |
Y638D |
probably benign |
Het |
Epb41 |
G |
A |
4: 131,734,746 (GRCm39) |
|
probably benign |
Het |
Esp31 |
A |
T |
17: 38,955,500 (GRCm39) |
I48L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,908,154 (GRCm39) |
Q2616R |
probably damaging |
Het |
Fbxo33 |
A |
G |
12: 59,265,919 (GRCm39) |
I116T |
probably benign |
Het |
Flnb |
G |
T |
14: 7,924,262 (GRCm38) |
E1792* |
probably null |
Het |
Fzd2 |
G |
A |
11: 102,495,633 (GRCm39) |
G26R |
probably damaging |
Het |
Gm11677 |
T |
A |
11: 111,616,264 (GRCm39) |
|
noncoding transcript |
Het |
Gm7137 |
A |
T |
10: 77,623,905 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,063,648 (GRCm39) |
T252A |
possibly damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,484 (GRCm39) |
F433L |
probably damaging |
Het |
Kcnmb4 |
T |
A |
10: 116,299,833 (GRCm39) |
|
probably benign |
Het |
Meltf |
A |
G |
16: 31,706,421 (GRCm39) |
|
probably null |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,230,491 (GRCm39) |
D1213G |
probably benign |
Het |
Ncam1 |
A |
C |
9: 49,709,995 (GRCm39) |
F12C |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,713,582 (GRCm39) |
D120E |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,314,587 (GRCm39) |
Q142R |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,558 (GRCm39) |
L62P |
probably damaging |
Het |
Or1j18 |
T |
G |
2: 36,625,011 (GRCm39) |
L226R |
possibly damaging |
Het |
Or2h15 |
G |
A |
17: 38,441,432 (GRCm39) |
S217F |
probably damaging |
Het |
Or56a4 |
T |
C |
7: 104,806,355 (GRCm39) |
N178S |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,435 (GRCm39) |
T190A |
probably benign |
Het |
Or8c10 |
C |
A |
9: 38,279,220 (GRCm39) |
T116K |
probably damaging |
Het |
Or8g30 |
C |
A |
9: 39,229,960 (GRCm39) |
V317L |
probably benign |
Het |
Or9s18 |
C |
A |
13: 65,300,743 (GRCm39) |
A235D |
possibly damaging |
Het |
Padi2 |
G |
T |
4: 140,659,432 (GRCm39) |
V246L |
probably benign |
Het |
Pgghg |
C |
T |
7: 140,522,455 (GRCm39) |
T63I |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,758 (GRCm39) |
N1117S |
probably benign |
Het |
Plch1 |
G |
T |
3: 63,630,202 (GRCm39) |
T534K |
probably damaging |
Het |
Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
Polr3c |
T |
C |
3: 96,630,833 (GRCm39) |
I196V |
probably benign |
Het |
Prph |
A |
T |
15: 98,953,113 (GRCm39) |
|
probably benign |
Het |
Ptprg |
C |
A |
14: 12,037,387 (GRCm38) |
T189K |
possibly damaging |
Het |
R3hcc1 |
A |
T |
14: 69,941,463 (GRCm39) |
I183N |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,363 (GRCm39) |
L145P |
probably benign |
Het |
Slc26a3 |
A |
G |
12: 31,520,964 (GRCm39) |
K723E |
possibly damaging |
Het |
Slc38a3 |
T |
C |
9: 107,536,390 (GRCm39) |
E2G |
possibly damaging |
Het |
Slc9a5 |
G |
T |
8: 106,082,490 (GRCm39) |
V252L |
probably benign |
Het |
Smim26 |
C |
T |
2: 144,437,043 (GRCm39) |
T64M |
probably benign |
Het |
Socs4 |
C |
T |
14: 47,527,589 (GRCm39) |
R175* |
probably null |
Het |
Srebf2 |
T |
C |
15: 82,066,251 (GRCm39) |
S600P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,705 (GRCm39) |
S115T |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,907 (GRCm39) |
D447G |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,896,591 (GRCm39) |
D766V |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,061,250 (GRCm39) |
V300A |
probably benign |
Het |
Tle6 |
T |
A |
10: 81,430,072 (GRCm39) |
N332I |
possibly damaging |
Het |
Tle6 |
C |
A |
10: 81,431,791 (GRCm39) |
W151L |
probably damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,108,408 (GRCm39) |
V36M |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,016,295 (GRCm39) |
I211T |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,701,344 (GRCm39) |
N379D |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,738,316 (GRCm39) |
W433R |
probably damaging |
Het |
Tyw1 |
T |
A |
5: 130,305,927 (GRCm39) |
L350Q |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,033,070 (GRCm39) |
L76P |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,651,423 (GRCm39) |
L274P |
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 |
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 |
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'- AATCAGACCATCTTGGCCAGG -3'
(R):5'- TCACTTTCAGGACTGGTTCTAAG -3'
Sequencing Primer
(F):5'- CCATCTTGGCCAGGAGATAGAC -3'
(R):5'- CTTTCAGGACTGGTTCTAAGAGAAG -3'
|
Posted On |
2016-06-06 |