Incidental Mutation 'R0526:Atp8b4'
| ID |
48897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
038719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0526 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126269283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 168
(L168P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000129187]
[ENSMUST00000147517]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040128
AA Change: L168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: L168P
| 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 damaging
Transcript: ENSMUST00000040149
AA Change: L168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: L168P
| 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 damaging
Transcript: ENSMUST00000129187
AA Change: L168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
AA Change: L168P
| 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 damaging
Transcript: ENSMUST00000147517
AA Change: L168P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: L168P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,535 (GRCm39) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,060,609 (GRCm39) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,751,869 (GRCm39) |
L89P |
probably damaging |
Het |
| Adamts1 |
A |
C |
16: 85,599,260 (GRCm39) |
S113R |
probably benign |
Het |
| Agxt2 |
G |
T |
15: 10,373,948 (GRCm39) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,266 (GRCm39) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 72,176,748 (GRCm39) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,536,803 (GRCm39) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,558 (GRCm39) |
C131R |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,155,641 (GRCm39) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,727,182 (GRCm39) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,050,504 (GRCm39) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,735,410 (GRCm39) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,282,078 (GRCm39) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,729 (GRCm39) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,556,812 (GRCm39) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,562,494 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,270,043 (GRCm39) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,963,742 (GRCm39) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,075,688 (GRCm39) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,262 (GRCm39) |
M671T |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,969,614 (GRCm39) |
N143S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,051 (GRCm39) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 170,856,760 (GRCm39) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,000 (GRCm39) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,349,215 (GRCm39) |
M664K |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,766,128 (GRCm39) |
S219T |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,487,690 (GRCm39) |
D591G |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,826,862 (GRCm39) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,996 (GRCm39) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,678,295 (GRCm39) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,893,934 (GRCm39) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,680,310 (GRCm39) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,296,379 (GRCm39) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,866,346 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,343,398 (GRCm39) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,229,680 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,190,823 (GRCm39) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,075,597 (GRCm39) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,087,074 (GRCm39) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,880 (GRCm39) |
I43F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,837 (GRCm39) |
V164E |
possibly damaging |
Het |
| Or5t5 |
A |
T |
2: 86,616,691 (GRCm39) |
T206S |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,999 (GRCm39) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,136,033 (GRCm39) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,874 (GRCm39) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,583,127 (GRCm39) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,951,804 (GRCm39) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,454 (GRCm39) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,338,392 (GRCm39) |
I336T |
probably damaging |
Het |
| Strip1 |
C |
T |
3: 107,527,355 (GRCm39) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,576,799 (GRCm39) |
E185G |
possibly damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,299,439 (GRCm39) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,879,129 (GRCm39) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,233,161 (GRCm39) |
V134I |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,320,457 (GRCm39) |
V738E |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,770,240 (GRCm39) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,711 (GRCm39) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,953 (GRCm39) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,812,584 (GRCm39) |
C285S |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,586,472 (GRCm39) |
I288M |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,371,263 (GRCm39) |
N206S |
probably benign |
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 |
|
|
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 |
|
R4895:Atp8b4
|
UTSW |
2 |
126,256,289 (GRCm39) |
missense |
probably benign |
0.23 |
|
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'- ACTGAGCCGAGCGTTTCTGAAAG -3'
(R):5'- GCTCATACCCTGATGGTCCCAAAG -3'
Sequencing Primer
(F):5'- AGAGACAAGTCAGGGTTTTCC -3'
(R):5'- CTGATGGTCCCAAAGCATGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation