Incidental Mutation 'R7729:Atp11b'
ID |
595684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp11b
|
Ensembl Gene |
ENSMUSG00000037400 |
Gene Name |
ATPase, class VI, type 11B |
Synonyms |
1110019I14Rik |
MMRRC Submission |
045785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R7729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
35808255-35910425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35832256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 37
(Q37R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029257]
|
AlphaFold |
Q6DFW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029257
AA Change: Q37R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029257 Gene: ENSMUSG00000037400 AA Change: Q37R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
G |
2: 127,028,710 (GRCm39) |
D163A |
possibly damaging |
Het |
Abce1 |
A |
T |
8: 80,414,537 (GRCm39) |
I454N |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,262,339 (GRCm39) |
I1980M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,885,917 (GRCm39) |
T19M |
probably benign |
Het |
Agmo |
T |
A |
12: 37,464,974 (GRCm39) |
S417T |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,552,068 (GRCm39) |
E403G |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,711 (GRCm39) |
A23T |
possibly damaging |
Het |
Atg9a |
T |
C |
1: 75,161,204 (GRCm39) |
T681A |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,629,829 (GRCm39) |
E80G |
probably benign |
Het |
AW551984 |
G |
A |
9: 39,511,071 (GRCm39) |
P172L |
possibly damaging |
Het |
Bace1 |
C |
T |
9: 45,769,743 (GRCm39) |
R296C |
probably damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,840 (GRCm39) |
H334Q |
probably benign |
Het |
Chtf18 |
C |
T |
17: 25,942,491 (GRCm39) |
R449H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,122,881 (GRCm39) |
H1384R |
possibly damaging |
Het |
Cltc |
A |
G |
11: 86,612,474 (GRCm39) |
I524T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,160,042 (GRCm39) |
I94N |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,472 (GRCm39) |
D3078V |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,943,683 (GRCm39) |
P520S |
|
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,145,366 (GRCm39) |
Y1130N |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,744,797 (GRCm39) |
T224A |
probably damaging |
Het |
Flt1 |
T |
A |
5: 147,637,177 (GRCm39) |
T39S |
probably benign |
Het |
Fxyd1 |
T |
C |
7: 30,752,896 (GRCm39) |
Y33C |
probably damaging |
Het |
Gab2 |
T |
A |
7: 96,950,633 (GRCm39) |
V442E |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,076 (GRCm39) |
D800G |
probably benign |
Het |
Gata4 |
C |
A |
14: 63,478,186 (GRCm39) |
A138S |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,131 (GRCm39) |
H751R |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,880,455 (GRCm39) |
R203G |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,527,093 (GRCm39) |
V234A |
possibly damaging |
Het |
Igkv4-74 |
A |
T |
6: 69,161,954 (GRCm39) |
Y72N |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,940 (GRCm39) |
K973E |
probably damaging |
Het |
Khdc1b |
C |
A |
1: 21,455,065 (GRCm39) |
T108K |
probably benign |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,225,474 (GRCm39) |
V666E |
probably damaging |
Het |
Mettl25 |
T |
A |
10: 105,601,871 (GRCm39) |
Y528F |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,940,904 (GRCm39) |
Y619* |
probably null |
Het |
Nlrp12 |
A |
C |
7: 3,277,020 (GRCm39) |
|
probably null |
Het |
Nol10 |
C |
T |
12: 17,474,676 (GRCm39) |
L623F |
possibly damaging |
Het |
Oas1g |
A |
G |
5: 121,024,063 (GRCm39) |
F82S |
probably damaging |
Het |
Or1j8 |
T |
G |
2: 36,191,772 (GRCm39) |
S74A |
probably benign |
Het |
Or5k3 |
C |
T |
16: 58,969,570 (GRCm39) |
A119V |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,546 (GRCm39) |
P58L |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,686,863 (GRCm39) |
E582K |
probably damaging |
Het |
Pdia3 |
A |
G |
2: 121,262,838 (GRCm39) |
D268G |
possibly damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,434 (GRCm39) |
S378G |
probably damaging |
Het |
Rcor3 |
A |
G |
1: 191,786,078 (GRCm39) |
Y387H |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,206,034 (GRCm39) |
I853F |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
T |
C |
13: 67,330,284 (GRCm39) |
L244P |
possibly damaging |
Het |
Scn5a |
G |
T |
9: 119,324,606 (GRCm39) |
N1407K |
probably damaging |
Het |
Sdcbp |
C |
T |
4: 6,378,985 (GRCm39) |
A24V |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,323 (GRCm39) |
Y18C |
possibly damaging |
Het |
Slc35d1 |
C |
T |
4: 103,072,044 (GRCm39) |
R7H |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,425,248 (GRCm39) |
T599S |
probably damaging |
Het |
Spata31d1e |
C |
T |
13: 59,889,437 (GRCm39) |
M794I |
not run |
Het |
St18 |
T |
A |
1: 6,872,761 (GRCm39) |
H165Q |
probably benign |
Het |
Sub1 |
C |
T |
15: 11,986,589 (GRCm39) |
R86K |
probably damaging |
Het |
Tectb |
G |
A |
19: 55,181,104 (GRCm39) |
V148M |
|
Het |
Tgfb2 |
C |
A |
1: 186,362,954 (GRCm39) |
G290V |
possibly damaging |
Het |
Tgm7 |
T |
C |
2: 120,924,191 (GRCm39) |
H577R |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,422,981 (GRCm39) |
S460P |
probably damaging |
Het |
Tmem221 |
C |
A |
8: 72,011,446 (GRCm39) |
R3L |
possibly damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,212,183 (GRCm39) |
V156L |
possibly damaging |
Het |
Trav6-5 |
A |
G |
14: 53,728,964 (GRCm39) |
K75E |
probably benign |
Het |
Trip10 |
G |
A |
17: 57,569,442 (GRCm39) |
G488S |
probably damaging |
Het |
Usp34 |
A |
C |
11: 23,399,268 (GRCm39) |
K2419T |
|
Het |
Vps13d |
T |
C |
4: 144,801,622 (GRCm39) |
Q3532R |
|
Het |
Vps4a |
A |
T |
8: 107,767,529 (GRCm39) |
I163L |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,454 (GRCm39) |
H330R |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,188,618 (GRCm39) |
I341V |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,548,973 (GRCm39) |
E105G |
probably benign |
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 |
|
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'- TGGATTCAGTCTTTAAGGCCAATAC -3'
(R):5'- TCCTACATCATGTTGGGTGAG -3'
Sequencing Primer
(F):5'- CTGGCCTGCTGATTAGTA -3'
(R):5'- AGGCTGGCCTCAATCTTGCTATATAG -3'
|
Posted On |
2019-11-12 |