Incidental Mutation 'R9046:Atp11b'
| ID |
736047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R9046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 35852740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
| AlphaFold |
Q6DFW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029257
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,525 (GRCm39) |
V1796A |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,617,477 (GRCm39) |
D1058G |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,323,858 (GRCm39) |
V431A |
probably benign |
Het |
| Amdhd1 |
C |
T |
10: 93,363,087 (GRCm39) |
D334N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,506,642 (GRCm39) |
M252K |
probably benign |
Het |
| Anxa3 |
G |
A |
5: 96,976,626 (GRCm39) |
R204Q |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,426,093 (GRCm39) |
T352A |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,850,846 (GRCm39) |
E464G |
possibly damaging |
Het |
| Brwd1 |
T |
A |
16: 95,829,402 (GRCm39) |
S1100C |
probably damaging |
Het |
| Ccm2l |
T |
A |
2: 152,916,720 (GRCm39) |
I317N |
probably damaging |
Het |
| Ccr9 |
C |
T |
9: 123,608,831 (GRCm39) |
T171I |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,218,303 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,534 (GRCm39) |
I735V |
probably benign |
Het |
| Dok6 |
C |
A |
18: 89,787,221 (GRCm39) |
V14L |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,984,603 (GRCm39) |
Y436F |
possibly damaging |
Het |
| Fndc9 |
G |
T |
11: 46,128,889 (GRCm39) |
W136L |
probably damaging |
Het |
| Gal3st1 |
G |
A |
11: 3,948,278 (GRCm39) |
V162I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,418,561 (GRCm39) |
S973P |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,035 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
G |
A |
17: 45,879,969 (GRCm39) |
P516S |
probably damaging |
Het |
| Htr1a |
G |
C |
13: 105,581,816 (GRCm39) |
G352A |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,568,945 (GRCm39) |
T545A |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,823 (GRCm39) |
R265* |
probably null |
Het |
| Kcmf1 |
C |
T |
6: 72,825,455 (GRCm39) |
A213T |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,572,540 (GRCm39) |
V1007A |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,515,337 (GRCm39) |
E81G |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,765,803 (GRCm39) |
V600F |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,479 (GRCm39) |
V471A |
probably benign |
Het |
| Lap3 |
A |
G |
5: 45,652,562 (GRCm39) |
T53A |
probably damaging |
Het |
| Lmntd1 |
A |
T |
6: 145,365,565 (GRCm39) |
I188N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,302,543 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Mef2d |
A |
T |
3: 88,074,825 (GRCm39) |
Y337F |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,474,742 (GRCm39) |
T7A |
possibly damaging |
Het |
| Myo3a |
G |
T |
2: 22,448,367 (GRCm39) |
L985F |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,923,112 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,376,145 (GRCm39) |
G77S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 68,975,123 (GRCm39) |
V13L |
probably benign |
Het |
| Nup155 |
TGGG |
TGG |
15: 8,157,919 (GRCm39) |
|
probably null |
Het |
| Or14j6 |
A |
G |
17: 38,215,145 (GRCm39) |
K236R |
probably damaging |
Het |
| Or3a10 |
T |
C |
11: 73,935,284 (GRCm39) |
D272G |
probably damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,496 (GRCm39) |
|
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,115 (GRCm39) |
N193D |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,864,927 (GRCm39) |
K1025T |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,174,639 (GRCm39) |
I144T |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,160 (GRCm39) |
V195A |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,640,464 (GRCm39) |
M257K |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,870,364 (GRCm39) |
|
probably null |
Het |
| Ptprt |
G |
A |
2: 161,372,361 (GRCm39) |
T1437M |
possibly damaging |
Het |
| Ptx3 |
T |
C |
3: 66,132,153 (GRCm39) |
F225L |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,947,435 (GRCm39) |
K50E |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,661,940 (GRCm39) |
N427D |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,563 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,436,725 (GRCm39) |
V35A |
probably damaging |
Het |
| Slc22a2 |
G |
A |
17: 12,834,234 (GRCm39) |
A501T |
probably null |
Het |
| Slu7 |
G |
A |
11: 43,335,629 (GRCm39) |
C455Y |
probably damaging |
Het |
| Src |
C |
A |
2: 157,307,795 (GRCm39) |
H235N |
probably damaging |
Het |
| Svopl |
T |
A |
6: 37,998,531 (GRCm39) |
M248L |
probably benign |
Het |
| Tbx6 |
G |
A |
7: 126,381,120 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
T |
4: 154,242,913 (GRCm39) |
I239N |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,189 (GRCm39) |
F350L |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,585 (GRCm39) |
S145P |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,850 (GRCm39) |
F76I |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,432,149 (GRCm39) |
C916* |
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,637,042 (GRCm39) |
E1415K |
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 |
|
|
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 |
|
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'- GCTAGAGCAGAACTTGGGTTTT -3'
(R):5'- TGAGTTCAGTACCCAGCACC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GCACCTCCAAGTTTGTAAAAGC -3'
|
| Posted On |
2023-03-08 |
Incidental Mutation