Incidental Mutation 'R4895:Atp8b4'
ID |
377545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b4
|
Ensembl Gene |
ENSMUSG00000060131 |
Gene Name |
ATPase, class I, type 8B, member 4 |
Synonyms |
Im |
MMRRC Submission |
042499-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126256289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 223
(H223Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000129187]
[ENSMUST00000147517]
|
AlphaFold |
A2ANX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040128
AA Change: H223Q
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000046444 Gene: ENSMUSG00000060131 AA Change: H223Q
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
15 |
81 |
3.4e-30 |
PFAM |
Pfam:E1-E2_ATPase
|
81 |
352 |
5.1e-8 |
PFAM |
Pfam:HAD
|
390 |
826 |
1.1e-18 |
PFAM |
Pfam:Cation_ATPase
|
474 |
573 |
5.5e-10 |
PFAM |
Pfam:PhoLip_ATPase_C
|
843 |
1097 |
1.6e-83 |
PFAM |
low complexity region
|
1113 |
1130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040149
AA Change: H223Q
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000047302 Gene: ENSMUSG00000060131 AA Change: H223Q
Domain | Start | End | E-Value | Type |
Pfam:PhoLip_ATPase_N
|
15 |
81 |
3.4e-30 |
PFAM |
Pfam:E1-E2_ATPase
|
81 |
352 |
5.1e-8 |
PFAM |
Pfam:HAD
|
390 |
826 |
1.1e-18 |
PFAM |
Pfam:Cation_ATPase
|
474 |
573 |
5.5e-10 |
PFAM |
Pfam:PhoLip_ATPase_C
|
843 |
1097 |
1.6e-83 |
PFAM |
low complexity region
|
1113 |
1130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129187
AA Change: H223Q
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118651 Gene: ENSMUSG00000060131 AA Change: H223Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
Blast:CUB
|
32 |
67 |
2e-7 |
BLAST |
Pfam:E1-E2_ATPase
|
84 |
355 |
1.6e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147517
AA Change: H223Q
PolyPhen 2
Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114252 Gene: ENSMUSG00000060131 AA Change: H223Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
Blast:CUB
|
32 |
67 |
2e-7 |
BLAST |
Pfam:E1-E2_ATPase
|
84 |
355 |
1.9e-17 |
PFAM |
|
Meta Mutation Damage Score |
0.1302 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (84/86) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
C |
A |
2: 154,454,990 (GRCm39) |
|
probably benign |
Het |
Abat |
G |
A |
16: 8,433,826 (GRCm39) |
A392T |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,846,572 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
T |
7: 45,630,414 (GRCm39) |
L1282Q |
possibly damaging |
Het |
Acss2 |
A |
G |
2: 155,392,401 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
G |
T |
17: 43,621,511 (GRCm39) |
V583L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,646,801 (GRCm39) |
D825G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,994,805 (GRCm39) |
V5363A |
probably benign |
Het |
Apba3 |
G |
A |
10: 81,107,117 (GRCm39) |
|
probably null |
Het |
Asb13 |
T |
C |
13: 3,693,589 (GRCm39) |
Y116H |
probably damaging |
Het |
Asb4 |
C |
A |
6: 5,398,266 (GRCm39) |
T77K |
probably damaging |
Het |
Best1 |
A |
G |
19: 9,970,135 (GRCm39) |
L159P |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,608,396 (GRCm39) |
M731K |
probably damaging |
Het |
Catspere1 |
T |
A |
1: 177,687,427 (GRCm39) |
|
noncoding transcript |
Het |
Cenpv |
A |
T |
11: 62,418,346 (GRCm39) |
Y202* |
probably null |
Het |
Cep57 |
A |
T |
9: 13,727,449 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,084 (GRCm39) |
D363V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,558,231 (GRCm39) |
Y1126C |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,347 (GRCm39) |
|
probably null |
Het |
Dnajc11 |
T |
C |
4: 152,064,390 (GRCm39) |
F514L |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,611,112 (GRCm39) |
T318I |
probably benign |
Het |
Efcab3 |
T |
A |
11: 105,008,227 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,640,496 (GRCm39) |
D1026G |
probably damaging |
Het |
Eif2b4 |
T |
G |
5: 31,350,298 (GRCm39) |
Q8P |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,486,918 (GRCm39) |
V1043E |
probably benign |
Het |
Gm11562 |
G |
T |
11: 99,511,141 (GRCm39) |
Q20K |
unknown |
Het |
Gm14415 |
A |
T |
2: 176,796,114 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
G |
11: 48,779,855 (GRCm39) |
S634P |
probably damaging |
Het |
Gpld1 |
C |
A |
13: 25,163,711 (GRCm39) |
N501K |
probably damaging |
Het |
Gsn |
C |
T |
2: 35,192,590 (GRCm39) |
R513C |
probably damaging |
Het |
Gulp1 |
T |
C |
1: 44,827,757 (GRCm39) |
F300L |
probably benign |
Het |
H2aj |
T |
C |
6: 136,785,660 (GRCm39) |
V108A |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,325,414 (GRCm39) |
R82G |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,872,734 (GRCm39) |
R4424H |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,553,130 (GRCm39) |
Q2520L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,171,014 (GRCm39) |
I53V |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,287,924 (GRCm39) |
R624Q |
probably damaging |
Het |
Ints8 |
G |
T |
4: 11,230,367 (GRCm39) |
C491* |
probably null |
Het |
Itpkb |
C |
A |
1: 180,241,460 (GRCm39) |
A710D |
probably damaging |
Het |
Kcnk4 |
A |
C |
19: 6,905,784 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,742,368 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
C |
T |
1: 193,014,622 (GRCm39) |
R594* |
probably null |
Het |
Map3k20 |
A |
G |
2: 72,232,700 (GRCm39) |
|
probably benign |
Het |
Maz |
A |
T |
7: 126,624,472 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,332,062 (GRCm39) |
E2252G |
probably damaging |
Het |
Ndufa10 |
A |
G |
1: 92,397,618 (GRCm39) |
Y61H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,481,789 (GRCm39) |
L1166M |
probably damaging |
Het |
Or12e1 |
A |
C |
2: 87,022,192 (GRCm39) |
I54L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,804,055 (GRCm39) |
F60Y |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,341 (GRCm39) |
*310K |
probably null |
Het |
Or5b97 |
C |
T |
19: 12,878,251 (GRCm39) |
V298M |
probably damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,020 (GRCm39) |
C141Y |
probably benign |
Het |
Or5p66 |
A |
C |
7: 107,885,802 (GRCm39) |
I177S |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,759 (GRCm39) |
F242L |
probably damaging |
Het |
Phip |
A |
G |
9: 82,841,648 (GRCm39) |
V57A |
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,788,626 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
C |
6: 25,753,205 (GRCm39) |
F444V |
probably damaging |
Het |
Ppm1a |
C |
T |
12: 72,831,126 (GRCm39) |
P217L |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,388,494 (GRCm39) |
F203S |
probably damaging |
Het |
Prl8a1 |
T |
C |
13: 27,759,513 (GRCm39) |
I175V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,175 (GRCm39) |
I1059N |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,122,242 (GRCm39) |
Q59R |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,651 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,542,656 (GRCm39) |
D902G |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,019,220 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
T |
9: 37,566,375 (GRCm39) |
I54N |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,993 (GRCm39) |
E811V |
unknown |
Het |
Tenm3 |
T |
A |
8: 48,754,006 (GRCm39) |
D799V |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,764 (GRCm39) |
L342P |
probably damaging |
Het |
Tppp |
C |
T |
13: 74,178,996 (GRCm39) |
R146* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,967,482 (GRCm39) |
M574K |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,195,345 (GRCm39) |
F1288Y |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,256,298 (GRCm39) |
K1124N |
probably damaging |
Het |
Usf3 |
A |
C |
16: 44,041,459 (GRCm39) |
S1980R |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,208,973 (GRCm39) |
D100G |
probably damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,167,182 (GRCm39) |
H650N |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,218 (GRCm39) |
Y398F |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,187,396 (GRCm39) |
D1142G |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,892 (GRCm39) |
R235* |
probably null |
Het |
|
Other mutations in Atp8b4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Atp8b4
|
APN |
2 |
126,200,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00841:Atp8b4
|
APN |
2 |
126,225,689 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00917:Atp8b4
|
APN |
2 |
126,216,453 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01013:Atp8b4
|
APN |
2 |
126,165,007 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01374:Atp8b4
|
APN |
2 |
126,225,577 (GRCm39) |
splice site |
probably benign |
|
IGL01898:Atp8b4
|
APN |
2 |
126,231,281 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01927:Atp8b4
|
APN |
2 |
126,164,896 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01971:Atp8b4
|
APN |
2 |
126,304,536 (GRCm39) |
missense |
probably benign |
0.05 |
R0320:Atp8b4
|
UTSW |
2 |
126,301,614 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0441:Atp8b4
|
UTSW |
2 |
126,220,626 (GRCm39) |
splice site |
probably benign |
|
R0526:Atp8b4
|
UTSW |
2 |
126,269,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R0765:Atp8b4
|
UTSW |
2 |
126,214,070 (GRCm39) |
splice site |
probably null |
|
R0964:Atp8b4
|
UTSW |
2 |
126,179,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Atp8b4
|
UTSW |
2 |
126,220,664 (GRCm39) |
missense |
probably benign |
0.00 |
R1401:Atp8b4
|
UTSW |
2 |
126,165,013 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1568:Atp8b4
|
UTSW |
2 |
126,167,314 (GRCm39) |
missense |
probably benign |
|
R1792:Atp8b4
|
UTSW |
2 |
126,167,214 (GRCm39) |
missense |
probably benign |
|
R1830:Atp8b4
|
UTSW |
2 |
126,245,301 (GRCm39) |
missense |
probably benign |
0.03 |
R1839:Atp8b4
|
UTSW |
2 |
126,203,702 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1984:Atp8b4
|
UTSW |
2 |
126,164,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Atp8b4
|
UTSW |
2 |
126,216,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2186:Atp8b4
|
UTSW |
2 |
126,200,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Atp8b4
|
UTSW |
2 |
126,217,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R2473:Atp8b4
|
UTSW |
2 |
126,200,814 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3412:Atp8b4
|
UTSW |
2 |
126,217,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R3414:Atp8b4
|
UTSW |
2 |
126,217,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Atp8b4
|
UTSW |
2 |
126,256,379 (GRCm39) |
splice site |
probably null |
|
R4543:Atp8b4
|
UTSW |
2 |
126,199,986 (GRCm39) |
missense |
probably damaging |
0.97 |
R4701:Atp8b4
|
UTSW |
2 |
126,256,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Atp8b4
|
UTSW |
2 |
126,164,736 (GRCm39) |
missense |
probably benign |
0.01 |
R5213:Atp8b4
|
UTSW |
2 |
126,231,329 (GRCm39) |
splice site |
probably null |
|
R5239:Atp8b4
|
UTSW |
2 |
126,234,781 (GRCm39) |
splice site |
probably null |
|
R5241:Atp8b4
|
UTSW |
2 |
126,225,646 (GRCm39) |
missense |
probably benign |
|
R5654:Atp8b4
|
UTSW |
2 |
126,217,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Atp8b4
|
UTSW |
2 |
126,275,856 (GRCm39) |
missense |
probably benign |
|
R5771:Atp8b4
|
UTSW |
2 |
126,220,664 (GRCm39) |
missense |
probably benign |
0.11 |
R5949:Atp8b4
|
UTSW |
2 |
126,247,242 (GRCm39) |
missense |
probably benign |
0.02 |
R5993:Atp8b4
|
UTSW |
2 |
126,245,154 (GRCm39) |
missense |
probably benign |
|
R5998:Atp8b4
|
UTSW |
2 |
126,275,787 (GRCm39) |
splice site |
probably null |
|
R6550:Atp8b4
|
UTSW |
2 |
126,266,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Atp8b4
|
UTSW |
2 |
126,256,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6892:Atp8b4
|
UTSW |
2 |
126,184,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6915:Atp8b4
|
UTSW |
2 |
126,200,834 (GRCm39) |
nonsense |
probably null |
|
R7045:Atp8b4
|
UTSW |
2 |
126,214,115 (GRCm39) |
missense |
probably benign |
0.00 |
R7206:Atp8b4
|
UTSW |
2 |
126,300,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R7349:Atp8b4
|
UTSW |
2 |
126,167,265 (GRCm39) |
missense |
probably benign |
0.00 |
R7395:Atp8b4
|
UTSW |
2 |
126,217,614 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7429:Atp8b4
|
UTSW |
2 |
126,245,291 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7430:Atp8b4
|
UTSW |
2 |
126,245,291 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7548:Atp8b4
|
UTSW |
2 |
126,231,262 (GRCm39) |
missense |
probably benign |
|
R7724:Atp8b4
|
UTSW |
2 |
126,164,813 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8770:Atp8b4
|
UTSW |
2 |
126,184,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R8793:Atp8b4
|
UTSW |
2 |
126,231,254 (GRCm39) |
missense |
probably benign |
|
R8816:Atp8b4
|
UTSW |
2 |
126,214,084 (GRCm39) |
critical splice donor site |
probably benign |
|
R8956:Atp8b4
|
UTSW |
2 |
126,167,327 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9017:Atp8b4
|
UTSW |
2 |
126,275,841 (GRCm39) |
missense |
probably benign |
0.13 |
R9026:Atp8b4
|
UTSW |
2 |
126,184,883 (GRCm39) |
missense |
probably benign |
0.34 |
R9128:Atp8b4
|
UTSW |
2 |
126,234,750 (GRCm39) |
missense |
probably benign |
|
R9190:Atp8b4
|
UTSW |
2 |
126,225,607 (GRCm39) |
missense |
probably damaging |
0.96 |
R9367:Atp8b4
|
UTSW |
2 |
126,216,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R9385:Atp8b4
|
UTSW |
2 |
126,322,551 (GRCm39) |
nonsense |
probably null |
|
Z1176:Atp8b4
|
UTSW |
2 |
126,256,349 (GRCm39) |
missense |
possibly damaging |
0.62 |
Z1177:Atp8b4
|
UTSW |
2 |
126,275,863 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Atp8b4
|
UTSW |
2 |
126,164,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCAGAGTACTGCTGTCTCC -3'
(R):5'- TGCCTTGCATATCAACAGCAG -3'
Sequencing Primer
(F):5'- TCCTCTGGGAGTACCACAC -3'
(R):5'- CCTTGCATATCAACAGCAGGGTAG -3'
|
Posted On |
2016-03-17 |