Incidental Mutation 'R5771:Atp8b4'
ID |
445342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b4
|
Ensembl Gene |
ENSMUSG00000060131 |
Gene Name |
ATPase, class I, type 8B, member 4 |
Synonyms |
Im |
MMRRC Submission |
043371-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5771 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126220664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 578
(D578G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000147517]
|
AlphaFold |
A2ANX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040128
AA Change: D578G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000046444 Gene: ENSMUSG00000060131 AA Change: D578G
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: D578G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047302 Gene: ENSMUSG00000060131 AA Change: D578G
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 |
noncoding transcript
Transcript: ENSMUST00000134977
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
95% (87/92) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,241,411 (GRCm39) |
N1091K |
probably damaging |
Het |
Adam3 |
C |
T |
8: 25,197,427 (GRCm39) |
V335I |
probably benign |
Het |
AI504432 |
G |
A |
3: 106,956,299 (GRCm39) |
|
noncoding transcript |
Het |
Apcdd1 |
A |
G |
18: 63,070,027 (GRCm39) |
Y98C |
probably damaging |
Het |
Aqp9 |
C |
T |
9: 71,030,146 (GRCm39) |
A214T |
probably damaging |
Het |
Bcdin3d |
T |
C |
15: 99,368,717 (GRCm39) |
M161V |
probably benign |
Het |
Bicral |
C |
T |
17: 47,136,284 (GRCm39) |
V309I |
possibly damaging |
Het |
Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
Cdhr2 |
T |
A |
13: 54,874,508 (GRCm39) |
V860E |
probably damaging |
Het |
Clhc1 |
A |
T |
11: 29,513,854 (GRCm39) |
N302Y |
possibly damaging |
Het |
Cnnm2 |
T |
A |
19: 46,845,434 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,937,636 (GRCm39) |
N709S |
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,826,328 (GRCm39) |
S512G |
probably benign |
Het |
Dgcr8 |
C |
T |
16: 18,090,632 (GRCm39) |
V581I |
probably benign |
Het |
Dnaaf10 |
A |
G |
11: 17,174,638 (GRCm39) |
T169A |
probably benign |
Het |
Dnah7c |
G |
A |
1: 46,678,825 (GRCm39) |
V1790I |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,341,732 (GRCm39) |
K452E |
probably benign |
Het |
Epb42 |
A |
C |
2: 120,852,301 (GRCm39) |
V564G |
probably damaging |
Het |
Etv4 |
G |
A |
11: 101,662,282 (GRCm39) |
P335S |
probably damaging |
Het |
Fbxw9 |
T |
A |
8: 85,791,201 (GRCm39) |
|
probably null |
Het |
Fcrl2 |
A |
T |
3: 87,170,775 (GRCm39) |
L3Q |
probably damaging |
Het |
Frmd8 |
C |
A |
19: 5,919,478 (GRCm39) |
A190S |
probably benign |
Het |
Gcm2 |
C |
T |
13: 41,256,991 (GRCm39) |
D253N |
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,342,895 (GRCm39) |
V143A |
probably benign |
Het |
Gigyf2 |
T |
C |
1: 87,374,050 (GRCm39) |
M1226T |
possibly damaging |
Het |
Gm10110 |
C |
T |
14: 90,134,675 (GRCm39) |
|
noncoding transcript |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm20939 |
T |
G |
17: 95,181,767 (GRCm39) |
C55W |
possibly damaging |
Het |
Gm5407 |
T |
A |
16: 49,117,229 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
A |
G |
9: 118,387,351 (GRCm39) |
E1491G |
probably damaging |
Het |
Hdac11 |
T |
A |
6: 91,146,364 (GRCm39) |
|
probably null |
Het |
Hs3st3b1 |
C |
T |
11: 63,780,098 (GRCm39) |
S343N |
probably benign |
Het |
Igkv12-44 |
G |
A |
6: 69,792,075 (GRCm39) |
P4S |
probably benign |
Het |
Igkv1-35 |
C |
T |
6: 69,988,231 (GRCm39) |
V22I |
probably benign |
Het |
Kcns2 |
A |
T |
15: 34,839,068 (GRCm39) |
T144S |
probably benign |
Het |
Khdc1c |
T |
C |
1: 21,439,266 (GRCm39) |
V84A |
possibly damaging |
Het |
Kif4-ps |
T |
A |
12: 101,115,544 (GRCm39) |
|
noncoding transcript |
Het |
Lamc2 |
T |
G |
1: 153,017,340 (GRCm39) |
Y549S |
probably benign |
Het |
Lect2 |
T |
A |
13: 56,696,154 (GRCm39) |
I8F |
probably benign |
Het |
Loxl3 |
T |
A |
6: 83,012,780 (GRCm39) |
|
probably null |
Het |
Lrwd1 |
A |
T |
5: 136,152,516 (GRCm39) |
I545N |
possibly damaging |
Het |
Ltbp3 |
T |
C |
19: 5,797,572 (GRCm39) |
C437R |
probably damaging |
Het |
Lypd3 |
T |
C |
7: 24,339,787 (GRCm39) |
S285P |
probably benign |
Het |
Mast2 |
T |
A |
4: 116,190,622 (GRCm39) |
H83L |
possibly damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,768,635 (GRCm39) |
F153L |
probably benign |
Het |
Ms4a4b |
T |
A |
19: 11,438,606 (GRCm39) |
|
probably null |
Het |
Nbr1 |
T |
A |
11: 101,450,364 (GRCm39) |
L41Q |
probably damaging |
Het |
Nlrp4a |
G |
A |
7: 26,152,814 (GRCm39) |
C628Y |
probably damaging |
Het |
Nup160 |
C |
T |
2: 90,553,740 (GRCm39) |
R1157C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,891,533 (GRCm39) |
I7000F |
unknown |
Het |
Or4k41 |
T |
A |
2: 111,280,406 (GRCm39) |
|
probably null |
Het |
Or4p21 |
A |
T |
2: 88,276,652 (GRCm39) |
V210D |
possibly damaging |
Het |
Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
Or5b122 |
T |
G |
19: 13,562,872 (GRCm39) |
V25G |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,546 (GRCm39) |
Y149F |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,094,217 (GRCm39) |
K345E |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,701,162 (GRCm39) |
|
probably null |
Het |
Ppp2r1b |
A |
T |
9: 50,778,132 (GRCm39) |
Q219L |
probably damaging |
Het |
Prim2 |
A |
G |
1: 33,493,232 (GRCm39) |
S485P |
unknown |
Het |
Prkdc |
A |
G |
16: 15,482,097 (GRCm39) |
D380G |
probably damaging |
Het |
Psmg1 |
A |
G |
16: 95,783,369 (GRCm39) |
L243S |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,685,061 (GRCm39) |
V270D |
probably benign |
Het |
Rnft1 |
C |
T |
11: 86,384,032 (GRCm39) |
R311* |
probably null |
Het |
Scaper |
T |
A |
9: 55,724,075 (GRCm39) |
I628L |
probably damaging |
Het |
Serpina3j |
C |
A |
12: 104,281,185 (GRCm39) |
H119Q |
possibly damaging |
Het |
Slamf6 |
G |
A |
1: 171,745,341 (GRCm39) |
V23I |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,815,688 (GRCm39) |
M45K |
possibly damaging |
Het |
Slc25a11 |
A |
C |
11: 70,537,016 (GRCm39) |
V13G |
probably damaging |
Het |
Slc7a14 |
T |
A |
3: 31,292,856 (GRCm39) |
Y143F |
probably damaging |
Het |
Spryd3 |
A |
G |
15: 102,025,342 (GRCm39) |
|
probably benign |
Het |
Stard13 |
C |
A |
5: 151,113,476 (GRCm39) |
L28F |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Taf2 |
A |
G |
15: 54,923,335 (GRCm39) |
V314A |
probably benign |
Het |
Tas2r106 |
T |
C |
6: 131,655,086 (GRCm39) |
N255S |
possibly damaging |
Het |
Tbxa2r |
T |
A |
10: 81,168,775 (GRCm39) |
W155R |
probably damaging |
Het |
Tcf3 |
A |
G |
10: 80,257,450 (GRCm39) |
|
probably benign |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Vmn2r55 |
T |
C |
7: 12,404,959 (GRCm39) |
D148G |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,461,235 (GRCm39) |
N854D |
probably benign |
Het |
Vstm4 |
A |
T |
14: 32,626,526 (GRCm39) |
H64L |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,256,276 (GRCm39) |
T282A |
probably damaging |
Het |
Zscan4c |
A |
T |
7: 10,743,574 (GRCm39) |
D391V |
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 |
|
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 |
|
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'- AACTCTGATTGCTGGCCTG -3'
(R):5'- AGACCCTGAATGTTTTGGCC -3'
Sequencing Primer
(F):5'- GCCTGTTCCCAGACCATCAG -3'
(R):5'- TGGCCTTGGCAAACCTTATG -3'
|
Posted On |
2016-11-21 |