Incidental Mutation 'R6818:Atp11b'
| ID |
537414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
044930-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R6818 (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 C
at 35868329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 467
(I467T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
| AlphaFold |
Q6DFW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029257
AA Change: I667T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: I667T
| 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 |
possibly damaging
Transcript: ENSMUST00000198599
AA Change: I467T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: I467T
| 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 |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,865,089 (GRCm39) |
|
probably null |
Het |
| Acot4 |
A |
C |
12: 84,088,783 (GRCm39) |
E210D |
probably damaging |
Het |
| Adamts9 |
A |
C |
6: 92,882,172 (GRCm39) |
S476A |
probably damaging |
Het |
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
| Ambp |
G |
T |
4: 63,072,243 (GRCm39) |
S17* |
probably null |
Het |
| Anxa6 |
T |
A |
11: 54,870,326 (GRCm39) |
M662L |
probably benign |
Het |
| B3gat1 |
G |
T |
9: 26,662,998 (GRCm39) |
|
probably benign |
Het |
| Bccip |
T |
G |
7: 133,319,488 (GRCm39) |
I193S |
probably damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,491,782 (GRCm39) |
E401G |
probably damaging |
Het |
| Cldn16 |
A |
G |
16: 26,296,257 (GRCm39) |
T78A |
probably damaging |
Het |
| Cldn24 |
G |
T |
8: 48,275,757 (GRCm39) |
A194S |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,595,054 (GRCm39) |
V1348A |
possibly damaging |
Het |
| Clvs1 |
T |
C |
4: 9,282,014 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,235,341 (GRCm39) |
D1161N |
probably damaging |
Het |
| Cuzd1 |
A |
G |
7: 130,918,394 (GRCm39) |
V181A |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,917,099 (GRCm39) |
I435T |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,091,835 (GRCm39) |
V858A |
probably benign |
Het |
| Dnmt3b |
C |
T |
2: 153,528,204 (GRCm39) |
T822M |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,593,082 (GRCm39) |
F97I |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,146,865 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
T |
C |
11: 69,900,099 (GRCm39) |
L631P |
probably damaging |
Het |
| Faf2 |
T |
A |
13: 54,789,419 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,200,167 (GRCm39) |
H969L |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,544 (GRCm39) |
V3759E |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm973 |
T |
C |
1: 59,669,328 (GRCm39) |
L793P |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,981,327 (GRCm39) |
I236T |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,992,337 (GRCm39) |
R765* |
probably null |
Het |
| Htt |
A |
G |
5: 34,940,111 (GRCm39) |
K77E |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,423,304 (GRCm39) |
Q826K |
probably benign |
Het |
| Inafm1 |
C |
T |
7: 16,007,086 (GRCm39) |
A44T |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,748 (GRCm39) |
T240A |
probably damaging |
Het |
| Klk1 |
A |
T |
7: 43,878,883 (GRCm39) |
I124F |
probably damaging |
Het |
| Krbox5 |
A |
G |
13: 67,981,986 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,145,051 (GRCm39) |
T442A |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,907,574 (GRCm39) |
D202E |
probably benign |
Het |
| Mest |
T |
A |
6: 30,746,286 (GRCm39) |
D284E |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,344,940 (GRCm39) |
Y95* |
probably null |
Het |
| Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,550 (GRCm39) |
M293V |
probably damaging |
Het |
| Or2ak4 |
T |
A |
11: 58,648,783 (GRCm39) |
C97* |
probably null |
Het |
| Or4k38 |
T |
G |
2: 111,165,659 (GRCm39) |
I255L |
probably benign |
Het |
| Pgm1 |
T |
A |
4: 99,820,763 (GRCm39) |
I220N |
probably damaging |
Het |
| Pirt |
T |
A |
11: 66,816,719 (GRCm39) |
V10E |
possibly damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,898,454 (GRCm39) |
M19I |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,949,417 (GRCm39) |
N490D |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,519,013 (GRCm39) |
S413* |
probably null |
Het |
| Serpinb6e |
A |
T |
13: 34,016,337 (GRCm39) |
|
probably null |
Het |
| Slitrk5 |
A |
G |
14: 111,917,726 (GRCm39) |
D450G |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,718 (GRCm39) |
T53A |
probably damaging |
Het |
| Tmem44 |
A |
T |
16: 30,362,039 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,448 (GRCm39) |
E114G |
possibly damaging |
Het |
| Treml2 |
A |
G |
17: 48,609,925 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ubxn1 |
T |
A |
19: 8,851,245 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,147 (GRCm39) |
M691K |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,193 (GRCm39) |
I816F |
possibly damaging |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
C |
2: 164,405,070 (GRCm39) |
|
probably null |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,986 (GRCm39) |
S341P |
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 |
|
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 |
|
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'- TTATGAATCTGGCTCTTACAGAGG -3'
(R):5'- CTCAGCAACTAAGTGCACTGAATG -3'
Sequencing Primer
(F):5'- AATCTGGCTCTTACAGAGGTGTGTG -3'
(R):5'- ACTGAATGCTACTTCAGAGGTCCTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation