Incidental Mutation 'R8793:Atp8b4'
| ID |
671036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
068610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126231254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 456
(M456L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000129187]
[ENSMUST00000147517]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040128
AA Change: M456L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: M456L
| 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: M456L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: M456L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118651
Gene: ENSMUSG00000060131
| 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 |
probably benign
Transcript: ENSMUST00000147517
|
| SMART Domains |
Protein: ENSMUSP00000114252
Gene: ENSMUSG00000060131
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
| Acot7 |
G |
A |
4: 152,284,380 (GRCm39) |
V17I |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,221 (GRCm39) |
D619E |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
| Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
| Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
| Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
| Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
| Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
| Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
| Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
| Grid2ip |
C |
T |
5: 143,363,396 (GRCm39) |
T463M |
probably damaging |
Het |
| Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
| Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
| Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
| Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
| Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,294,673 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
| Tmem237 |
G |
T |
1: 59,146,613 (GRCm39) |
L337M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
| Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
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 |
|
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 |
|
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'- CCTTGCTTGGAATAGTCTAATCTAC -3'
(R):5'- CTCAAGAGCATGTCAATGTCTAC -3'
Sequencing Primer
(F):5'- GGCTCACTATTCAAGCAC -3'
(R):5'- AATTAAGACAGATAATGGCAACCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation