Incidental Mutation 'R1792:Atp8b4'
ID |
201809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp8b4
|
Ensembl Gene |
ENSMUSG00000060131 |
Gene Name |
ATPase, class I, type 8B, member 4 |
Synonyms |
Im |
MMRRC Submission |
039822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126167214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1095
(Y1095F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
|
AlphaFold |
A2ANX3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040128
AA Change: Y1095F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046444 Gene: ENSMUSG00000060131 AA Change: Y1095F
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: Y1095F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047302 Gene: ENSMUSG00000060131 AA Change: Y1095F
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 |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.4%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
C |
T |
11: 110,074,870 (GRCm39) |
V1398I |
probably benign |
Het |
Ackr3 |
A |
T |
1: 90,142,620 (GRCm39) |
N360Y |
probably benign |
Het |
Acr |
T |
G |
15: 89,457,346 (GRCm39) |
M198R |
probably benign |
Het |
Adamts14 |
A |
T |
10: 61,054,277 (GRCm39) |
M585K |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,267,552 (GRCm39) |
C853S |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,067,694 (GRCm39) |
S1410R |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,354 (GRCm39) |
F67I |
possibly damaging |
Het |
Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
Ccdc57 |
T |
C |
11: 120,788,707 (GRCm39) |
Q380R |
possibly damaging |
Het |
Cdc45 |
A |
T |
16: 18,626,090 (GRCm39) |
D142E |
probably benign |
Het |
Cs |
A |
T |
10: 128,195,948 (GRCm39) |
N386Y |
possibly damaging |
Het |
Dsc3 |
A |
T |
18: 20,120,055 (GRCm39) |
V201E |
probably damaging |
Het |
Dusp26 |
G |
T |
8: 31,581,963 (GRCm39) |
R19L |
probably benign |
Het |
Esyt3 |
C |
A |
9: 99,240,169 (GRCm39) |
E92* |
probably null |
Het |
Ext2 |
T |
C |
2: 93,534,890 (GRCm39) |
N625D |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,793,929 (GRCm39) |
K102* |
probably null |
Het |
Fmnl2 |
T |
A |
2: 52,932,329 (GRCm39) |
S103T |
possibly damaging |
Het |
Fmo4 |
T |
A |
1: 162,621,859 (GRCm39) |
I451F |
probably benign |
Het |
Gak |
A |
T |
5: 108,733,397 (GRCm39) |
Y47* |
probably null |
Het |
Gbp10 |
A |
T |
5: 105,372,166 (GRCm39) |
L198Q |
probably damaging |
Het |
Gm11559 |
T |
A |
11: 99,755,755 (GRCm39) |
S135T |
unknown |
Het |
Gm14496 |
A |
T |
2: 181,637,946 (GRCm39) |
D340V |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,810,259 (GRCm39) |
T47A |
possibly damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,395,790 (GRCm39) |
|
probably null |
Het |
Herc4 |
T |
A |
10: 63,081,680 (GRCm39) |
M1K |
probably null |
Het |
Hirip3 |
T |
A |
7: 126,461,792 (GRCm39) |
V29E |
probably damaging |
Het |
Hs3st5 |
A |
G |
10: 36,708,720 (GRCm39) |
D85G |
probably benign |
Het |
Htt |
T |
A |
5: 35,064,543 (GRCm39) |
S2981T |
probably damaging |
Het |
Iho1 |
A |
C |
9: 108,282,111 (GRCm39) |
S526A |
possibly damaging |
Het |
Il20ra |
G |
A |
10: 19,635,384 (GRCm39) |
V542I |
probably damaging |
Het |
Itgb2l |
C |
A |
16: 96,226,282 (GRCm39) |
C603F |
probably damaging |
Het |
Klhl41 |
A |
C |
2: 69,501,146 (GRCm39) |
K202N |
probably benign |
Het |
Lct |
G |
A |
1: 128,255,679 (GRCm39) |
S121F |
possibly damaging |
Het |
Lhx6 |
C |
T |
2: 35,977,387 (GRCm39) |
G355D |
probably damaging |
Het |
Limk2 |
A |
G |
11: 3,308,236 (GRCm39) |
V121A |
probably benign |
Het |
Med1 |
T |
G |
11: 98,048,109 (GRCm39) |
K896Q |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,214,371 (GRCm39) |
F2789S |
probably benign |
Het |
Nemf |
T |
A |
12: 69,359,343 (GRCm39) |
Y997F |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,367,590 (GRCm39) |
S296P |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,896,252 (GRCm39) |
N961D |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,286,743 (GRCm39) |
T163A |
probably benign |
Het |
Or1r1 |
A |
C |
11: 73,874,673 (GRCm39) |
S254A |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,105,112 (GRCm39) |
F27I |
probably benign |
Het |
Or6y1 |
T |
C |
1: 174,276,303 (GRCm39) |
V38A |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,489,166 (GRCm39) |
H247L |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,237 (GRCm39) |
V866E |
probably damaging |
Het |
Pla2g4e |
G |
A |
2: 119,998,955 (GRCm39) |
P803L |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,860,968 (GRCm39) |
V217A |
possibly damaging |
Het |
Pole4 |
G |
A |
6: 82,629,720 (GRCm39) |
P34L |
unknown |
Het |
Pole4 |
G |
T |
6: 82,629,721 (GRCm39) |
P34T |
unknown |
Het |
Ptchd3 |
G |
A |
11: 121,732,377 (GRCm39) |
W422* |
probably null |
Het |
Rab1b |
C |
T |
19: 5,150,513 (GRCm39) |
A167T |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,802,821 (GRCm39) |
M359T |
probably benign |
Het |
Rexo4 |
T |
C |
2: 26,850,248 (GRCm39) |
N310D |
probably benign |
Het |
Rgma |
C |
T |
7: 73,067,585 (GRCm39) |
T280M |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,364,408 (GRCm39) |
I43N |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,778,446 (GRCm39) |
V399E |
probably damaging |
Het |
Scd4 |
T |
G |
19: 44,326,013 (GRCm39) |
Y122* |
probably null |
Het |
Sirt6 |
T |
C |
10: 81,462,355 (GRCm39) |
I15V |
possibly damaging |
Het |
Slamf8 |
A |
T |
1: 172,415,526 (GRCm39) |
V104E |
possibly damaging |
Het |
Slc12a4 |
A |
G |
8: 106,678,475 (GRCm39) |
I285T |
possibly damaging |
Het |
Slc25a13 |
G |
A |
6: 6,115,104 (GRCm39) |
A207V |
possibly damaging |
Het |
Slc6a21 |
T |
C |
7: 44,930,155 (GRCm39) |
S185P |
probably benign |
Het |
Smarcc2 |
A |
C |
10: 128,299,740 (GRCm39) |
N135T |
probably damaging |
Het |
Susd6 |
T |
C |
12: 80,921,065 (GRCm39) |
S221P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 4,990,975 (GRCm39) |
G8418D |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,640,559 (GRCm39) |
K193E |
possibly damaging |
Het |
Tbc1d7 |
C |
T |
13: 43,318,853 (GRCm39) |
V95I |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,963,595 (GRCm39) |
D225G |
probably benign |
Het |
Tfip11 |
A |
T |
5: 112,477,263 (GRCm39) |
I82F |
possibly damaging |
Het |
Tmem41a |
C |
T |
16: 21,755,731 (GRCm39) |
G192S |
probably null |
Het |
Trrap |
G |
A |
5: 144,790,396 (GRCm39) |
A3619T |
possibly damaging |
Het |
Tspoap1 |
G |
A |
11: 87,656,707 (GRCm39) |
|
probably null |
Het |
Wfdc21 |
T |
C |
11: 83,637,883 (GRCm39) |
S11P |
probably benign |
Het |
Zc2hc1b |
A |
T |
10: 13,044,474 (GRCm39) |
V63E |
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 |
|
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'- ACTAGTATGGTCAAGATGCGTG -3'
(R):5'- GGGCTTTCCTAATCGTGTCAAAG -3'
Sequencing Primer
(F):5'- GTTGGGGGAGAGAATCATCTACTC -3'
(R):5'- GCTTTCCTAATCGTGTCAAAGATTTG -3'
|
Posted On |
2014-06-23 |