Incidental Mutation 'R5689:Atp11b'
| ID |
443552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
043322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35888501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 924
(V924F)
|
| 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: V924F
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: V924F
| 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: V724F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: V724F
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (63/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,051,412 (GRCm39) |
C844F |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,075,621 (GRCm39) |
V945A |
probably damaging |
Het |
| Aimp2 |
T |
C |
5: 143,843,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Cfb |
T |
A |
17: 35,080,770 (GRCm39) |
T76S |
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,766 (GRCm39) |
H139L |
probably benign |
Het |
| Cypt4 |
T |
C |
9: 24,536,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Dbx1 |
A |
G |
7: 49,282,519 (GRCm39) |
F229L |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,444,857 (GRCm39) |
V3949A |
possibly damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,017,716 (GRCm39) |
E6G |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,169,689 (GRCm39) |
V263F |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,959,088 (GRCm39) |
D403E |
probably benign |
Het |
| Evi5l |
C |
T |
8: 4,255,460 (GRCm39) |
Q542* |
probably null |
Het |
| Fam135a |
A |
G |
1: 24,068,134 (GRCm39) |
S12P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,591 (GRCm39) |
A458T |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,115 (GRCm39) |
V517A |
probably damaging |
Het |
| Galc |
G |
T |
12: 98,179,245 (GRCm39) |
H361N |
possibly damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,754 (GRCm39) |
F303L |
probably damaging |
Het |
| Gcnt1 |
T |
A |
19: 17,306,768 (GRCm39) |
D319V |
probably damaging |
Het |
| Gm26996 |
T |
C |
6: 130,555,258 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5321 |
A |
T |
7: 6,022,268 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
T |
C |
10: 79,810,465 (GRCm39) |
L657P |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,803,981 (GRCm39) |
F54S |
probably damaging |
Het |
| Ilk |
C |
A |
7: 105,390,857 (GRCm39) |
L267I |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,285 (GRCm39) |
Y713C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,965,961 (GRCm39) |
V386E |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,764 (GRCm39) |
E587G |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,610,214 (GRCm39) |
V99M |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,171,728 (GRCm39) |
*173W |
probably null |
Het |
| Pcdhga7 |
C |
A |
18: 37,849,736 (GRCm39) |
P581H |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,599,683 (GRCm39) |
L2384* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,914,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,552,170 (GRCm39) |
T335A |
probably damaging |
Het |
| Polr3e |
C |
A |
7: 120,539,912 (GRCm39) |
T579K |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,045,515 (GRCm39) |
V164A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,866,269 (GRCm39) |
F43S |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,434,177 (GRCm38) |
I334F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,670,954 (GRCm39) |
Y167H |
probably damaging |
Het |
| Rnf146 |
T |
C |
10: 29,223,800 (GRCm39) |
T29A |
probably benign |
Het |
| Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,710 (GRCm39) |
M223I |
probably benign |
Het |
| Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
| Slitrk6 |
C |
T |
14: 110,989,558 (GRCm39) |
E50K |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,975,949 (GRCm39) |
F544S |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,571,063 (GRCm39) |
M444V |
possibly damaging |
Het |
| Trav7d-4 |
G |
A |
14: 53,007,651 (GRCm39) |
R48H |
probably damaging |
Het |
| Trim50 |
A |
T |
5: 135,382,516 (GRCm39) |
T123S |
probably damaging |
Het |
| Trpc4ap |
C |
G |
2: 155,512,955 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,618,620 (GRCm39) |
R14475S |
probably damaging |
Het |
| Uts2 |
A |
T |
4: 151,083,565 (GRCm39) |
T59S |
possibly damaging |
Het |
| Vmn1r52 |
T |
C |
6: 90,156,232 (GRCm39) |
S179P |
possibly damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,616,693 (GRCm39) |
H537R |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,311,360 (GRCm39) |
T445A |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,054 (GRCm39) |
V73A |
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 |
|
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 |
|
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'- ACCCTGACCAACTTAAGAGTCTTG -3'
(R):5'- TACAACAGTTTAAGGACAGAAGTGC -3'
Sequencing Primer
(F):5'- CTGACCAACTTAAGAGTCTTGAGATG -3'
(R):5'- GAAGTGCTTATTCCTAAAAACACTGG -3'
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| Posted On |
2016-11-09 |
Incidental Mutation