Incidental Mutation 'R6575:Atp8b4'
| ID |
523381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
044699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126256284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 225
(L225P)
|
| 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: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: L225P
| 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: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: L225P
| 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: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
AA Change: L225P
| 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: L225P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
AA Change: L225P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
| Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
| Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
| Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
| Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
| Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
| Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
| Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
| Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
| Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
| Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
| Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
| Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
| Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
| Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
| Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
| Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
probably damaging |
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 |
|
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 |
|
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'- CAGAGTACTGCTGTCTCCTCTG -3'
(R):5'- TTGCATATCAACAGCAGGGTAG -3'
Sequencing Primer
(F):5'- TCCTCTGGGAGTACCACAC -3'
(R):5'- AGTAAATAGCATGGTGGGCTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation