Incidental Mutation 'R5171:Atp11b'
| ID |
398680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
042751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35887086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 690
(T690I)
|
| 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: T890I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: T890I
| 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 damaging
Transcript: ENSMUST00000198599
AA Change: T690I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: T690I
| 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
|
| Meta Mutation Damage Score |
0.1854 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
| Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
| Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
| Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
| Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
| Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
| Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
| Gper1 |
C |
T |
5: 139,412,413 (GRCm39) |
R253C |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,217,476 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
| Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
| Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
| Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
| Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
| Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
| Rexo5 |
T |
A |
7: 119,423,002 (GRCm39) |
I278N |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
| Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
| Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,854,414 (GRCm39) |
T91S |
possibly damaging |
Het |
| Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
| Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
| Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,356,203 (GRCm39) |
K35R |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
probably null |
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 |
|
R5058:Atp11b
|
UTSW |
3 |
35,863,510 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- GAATTCTGTGTTCTCACTTTACGTG -3'
(R):5'- CTGCACCATAGGAGGAAAGC -3'
Sequencing Primer
(F):5'- GAGTGTGTCCTTAGGGAAAATGCATC -3'
(R):5'- TAGGAGGAAAGCACAAACTCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation