Incidental Mutation 'R7178:Atp11b'
| ID |
558747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
045232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35874099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 696
(M696K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
| AlphaFold |
Q6DFW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029257
AA Change: M696K
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: M696K
| 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 |
probably benign
Transcript: ENSMUST00000198599
AA Change: M496K
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: M496K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
| Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
| Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
| Atad2 |
C |
T |
15: 57,980,689 (GRCm39) |
R383Q |
probably damaging |
Het |
| Atp13a2 |
A |
G |
4: 140,726,462 (GRCm39) |
T350A |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,850,979 (GRCm39) |
D29G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
| Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
| Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
| Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
| Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
| Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
| Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
| Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
| Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
| Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
| Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
| Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
| Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
| Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
| Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
| Qars1 |
T |
C |
9: 108,392,322 (GRCm39) |
V723A |
possibly damaging |
Het |
| Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
| Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
| Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
| Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
| Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
possibly 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 |
|
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 |
|
|
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'- ACCAACTCTGTGGATAATACCC -3'
(R):5'- TTACCTTCTGGCAAGCTGC -3'
Sequencing Primer
(F):5'- GGTTTTGTTTGAACTAGATAGCCAC -3'
(R):5'- GCAAGCTGCCTCAACTGTTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation