Incidental Mutation 'R8816:Atp8b4'
| ID |
672716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
068726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8816 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
C to T
at 126214084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000147517]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040128
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
| 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
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
| 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: 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,127,513 (GRCm39) |
H348L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Ass1 |
T |
C |
2: 31,383,189 (GRCm39) |
|
probably benign |
Het |
| Atrn |
C |
A |
2: 130,748,798 (GRCm39) |
N106K |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,846,494 (GRCm39) |
V1256A |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,862,804 (GRCm39) |
Q150H |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,626,597 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,872,791 (GRCm39) |
V280A |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,714,454 (GRCm39) |
V2642I |
unknown |
Het |
| Chd2 |
T |
C |
7: 73,140,245 (GRCm39) |
H661R |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,833,076 (GRCm39) |
D763G |
possibly damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,093 (GRCm39) |
C160R |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,904,286 (GRCm39) |
S19P |
probably benign |
Het |
| Cyp4a30b |
G |
A |
4: 115,309,834 (GRCm39) |
V12M |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,930,711 (GRCm39) |
P848S |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,159,785 (GRCm39) |
Y141C |
probably benign |
Het |
| Eif2b3 |
C |
A |
4: 116,928,052 (GRCm39) |
Q424K |
probably benign |
Het |
| Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
| Fcgbp |
T |
G |
7: 27,784,412 (GRCm39) |
S157R |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 53,004,214 (GRCm39) |
V642G |
unknown |
Het |
| Gpr119 |
C |
T |
X: 47,762,276 (GRCm39) |
R287Q |
possibly damaging |
Het |
| Grm7 |
C |
T |
6: 111,230,966 (GRCm39) |
T463I |
possibly damaging |
Het |
| Haus4 |
G |
A |
14: 54,779,710 (GRCm39) |
R305C |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,537 (GRCm39) |
S252P |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,098,861 (GRCm39) |
Q359R |
probably damaging |
Het |
| Itgad |
C |
A |
7: 127,797,542 (GRCm39) |
Y924* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,142,710 (GRCm39) |
Y1703H |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,584,799 (GRCm39) |
V174E |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,548,371 (GRCm39) |
E405G |
probably damaging |
Het |
| Klk1b3 |
T |
C |
7: 43,851,668 (GRCm39) |
V242A |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,517,909 (GRCm39) |
F1615S |
probably damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,112,793 (GRCm39) |
L1171* |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,693,778 (GRCm39) |
E1530G |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,699,721 (GRCm39) |
S258C |
possibly damaging |
Het |
| Nudcd3 |
C |
T |
11: 6,100,587 (GRCm39) |
G186S |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,768 (GRCm39) |
C176S |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,950,905 (GRCm39) |
S374F |
possibly damaging |
Het |
| P2ry2 |
T |
A |
7: 100,647,763 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,121,577 (GRCm39) |
I335V |
probably benign |
Het |
| Phyhip |
A |
C |
14: 70,704,375 (GRCm39) |
D198A |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,385,060 (GRCm39) |
Y655F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,279,145 (GRCm39) |
I95T |
possibly damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,435,097 (GRCm39) |
E99G |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,603,892 (GRCm39) |
F98L |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,119,378 (GRCm39) |
S321P |
probably benign |
Het |
| Smyd1 |
T |
A |
6: 71,192,868 (GRCm39) |
E447V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,232 (GRCm39) |
V235A |
probably benign |
Het |
| Sod2 |
A |
G |
17: 13,227,253 (GRCm39) |
Y69C |
probably benign |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,337 (GRCm39) |
S82G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,128,799 (GRCm39) |
I1430T |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,741,357 (GRCm39) |
N2680K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,854,522 (GRCm39) |
V371D |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,965,580 (GRCm39) |
S1692P |
probably damaging |
Het |
| Usb1 |
G |
T |
8: 96,071,984 (GRCm39) |
C228F |
probably benign |
Het |
| Veph1 |
G |
T |
3: 66,065,646 (GRCm39) |
H474N |
probably benign |
Het |
| Wls |
A |
G |
3: 159,639,928 (GRCm39) |
T520A |
possibly damaging |
Het |
| Ywhae |
T |
C |
11: 75,623,878 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zranb3 |
C |
T |
1: 127,964,347 (GRCm39) |
V127M |
possibly 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 |
|
R8793:Atp8b4
|
UTSW |
2 |
126,231,254 (GRCm39) |
missense |
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'- TTGAGATTCTTCCCTGAGAACACC -3'
(R):5'- GTGTTCACTAACATCCATGGAGC -3'
Sequencing Primer
(F):5'- TTCCCTGAGAACACCTGGGAAATG -3'
(R):5'- TCACTAACATCCATGGAGCTGATAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation