Incidental Mutation 'R2008:Atp11b'
| ID |
219167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp11b
|
| Ensembl Gene |
ENSMUSG00000037400 |
| Gene Name |
ATPase, class VI, type 11B |
| Synonyms |
1110019I14Rik |
| MMRRC Submission |
040017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R2008 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35909271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1155
(D1155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
[ENSMUST00000198599]
|
| AlphaFold |
Q6DFW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029257
AA Change: D1155G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: D1155G
| 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 |
unknown
Transcript: ENSMUST00000197764
AA Change: D103G
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,026,034 (GRCm39) |
C185S |
probably benign |
Het |
| Acsbg3 |
A |
G |
17: 57,193,478 (GRCm39) |
N608S |
probably benign |
Het |
| Actl6b |
T |
A |
5: 137,567,592 (GRCm39) |
S409T |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,080,074 (GRCm39) |
V50D |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,021,013 (GRCm39) |
T604A |
probably damaging |
Het |
| Adprs |
T |
A |
4: 126,211,137 (GRCm39) |
D260V |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,010,131 (GRCm39) |
E296G |
possibly damaging |
Het |
| Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,831 (GRCm39) |
W236R |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,309,925 (GRCm39) |
T551S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,517,996 (GRCm39) |
C281S |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,570,810 (GRCm39) |
|
probably null |
Het |
| Capn9 |
T |
G |
8: 125,318,424 (GRCm39) |
C97G |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 123,370,032 (GRCm39) |
V147A |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,349 (GRCm39) |
Y136F |
probably damaging |
Het |
| Cdh6 |
C |
A |
15: 13,051,562 (GRCm39) |
R357L |
possibly damaging |
Het |
| Celf1 |
A |
T |
2: 90,840,753 (GRCm39) |
N367I |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,790,467 (GRCm39) |
I1363V |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,885,561 (GRCm39) |
T156I |
possibly damaging |
Het |
| Colec12 |
T |
A |
18: 9,874,813 (GRCm39) |
D696E |
probably benign |
Het |
| Ctbp1 |
C |
T |
5: 33,408,330 (GRCm39) |
E138K |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,589 (GRCm39) |
I293T |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dctn1 |
C |
T |
6: 83,166,938 (GRCm39) |
T263I |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,748,094 (GRCm39) |
V317E |
probably damaging |
Het |
| Edil3 |
G |
A |
13: 89,093,072 (GRCm39) |
|
probably null |
Het |
| Egflam |
A |
T |
15: 7,267,285 (GRCm39) |
V700E |
possibly damaging |
Het |
| Fam168b |
A |
G |
1: 34,858,946 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
T |
G |
1: 87,301,835 (GRCm39) |
|
probably null |
Het |
| H1f2 |
C |
G |
13: 23,923,392 (GRCm39) |
S187R |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,026,514 (GRCm39) |
S248P |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,524 (GRCm39) |
I260F |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,408 (GRCm39) |
L305Q |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,052,379 (GRCm39) |
C660S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,701,981 (GRCm39) |
I138F |
probably benign |
Het |
| Katnip |
C |
G |
7: 125,459,738 (GRCm39) |
H1189D |
probably damaging |
Het |
| Lcn4 |
G |
T |
2: 26,561,228 (GRCm39) |
Q18K |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,146 (GRCm39) |
Y192H |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,566,723 (GRCm39) |
L231P |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,009 (GRCm39) |
D544G |
probably benign |
Het |
| Mthfd1 |
C |
A |
12: 76,344,293 (GRCm39) |
T331K |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,423 (GRCm39) |
Y546F |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,916,310 (GRCm39) |
Y129C |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,182,973 (GRCm39) |
V563A |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,498 (GRCm39) |
Y140H |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,417 (GRCm39) |
C252S |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,766 (GRCm39) |
N294S |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,389 (GRCm39) |
F204L |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,537 (GRCm39) |
S67P |
probably damaging |
Het |
| Orc3 |
T |
A |
4: 34,611,049 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
C |
7: 45,913,498 (GRCm39) |
V777A |
probably benign |
Het |
| Pbxip1 |
G |
T |
3: 89,356,020 (GRCm39) |
V711L |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,316 (GRCm39) |
D92G |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,783,096 (GRCm39) |
M964K |
probably damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,684 (GRCm39) |
M1L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,269,683 (GRCm39) |
V3287A |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,844 (GRCm39) |
H1669Q |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,552,016 (GRCm39) |
S195P |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,517 (GRCm39) |
Y591C |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,651 (GRCm39) |
T268S |
possibly damaging |
Het |
| Scd2 |
A |
T |
19: 44,291,610 (GRCm39) |
T350S |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,518,091 (GRCm39) |
Q1040L |
possibly damaging |
Het |
| Sdhb |
T |
A |
4: 140,706,340 (GRCm39) |
L259Q |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,680 (GRCm39) |
H701R |
probably damaging |
Het |
| Slc41a2 |
C |
T |
10: 83,140,167 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,797,785 (GRCm39) |
D1533G |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,271 (GRCm39) |
K367R |
possibly damaging |
Het |
| Sstr3 |
G |
A |
15: 78,424,711 (GRCm39) |
T12M |
probably benign |
Het |
| Synj2 |
G |
T |
17: 6,047,221 (GRCm39) |
E20D |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,353,281 (GRCm39) |
R907L |
unknown |
Het |
| Thsd1 |
A |
G |
8: 22,749,247 (GRCm39) |
E645G |
probably benign |
Het |
| Tmem176b |
A |
T |
6: 48,812,383 (GRCm39) |
M194K |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,739,265 (GRCm39) |
|
probably null |
Het |
| Trim44 |
G |
A |
2: 102,230,722 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,583,642 (GRCm39) |
R320W |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,648,829 (GRCm39) |
C401* |
probably null |
Het |
| Trpv5 |
T |
C |
6: 41,636,662 (GRCm39) |
|
probably null |
Het |
| V1rd19 |
T |
A |
7: 23,702,726 (GRCm39) |
L64* |
probably null |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,661 (GRCm39) |
R115W |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,509,924 (GRCm39) |
N551S |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,921 (GRCm39) |
V269A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,881,813 (GRCm39) |
V1254D |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,156,775 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,450,712 (GRCm39) |
T1622S |
unknown |
Het |
| Zfp112 |
T |
C |
7: 23,826,176 (GRCm39) |
Y715H |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
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 |
|
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 |
|
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'- GTACTAACCTGAAGAACTCTTTAGC -3'
(R):5'- GACTCTGAGAAAGTGTCAATTCCTC -3'
Sequencing Primer
(F):5'- ACCTGAAGAACTCTTTAGCATTTAG -3'
(R):5'- CTGAGAAAGTGTCAATTCCTCAAGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation