Incidental Mutation 'R5213:Atp8b4'
| ID |
403235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
042854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 126231329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000129187]
[ENSMUST00000147517]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably null
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 null
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 null
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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,303,865 (GRCm39) |
H1342N |
possibly damaging |
Het |
| Adcy2 |
G |
T |
13: 68,768,942 (GRCm39) |
T1062K |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,943,808 (GRCm39) |
N1110S |
probably damaging |
Het |
| Atp10a |
C |
T |
7: 58,423,731 (GRCm39) |
T232I |
probably damaging |
Het |
| Atp5pb |
T |
A |
3: 105,863,227 (GRCm39) |
K70* |
probably null |
Het |
| Atraid |
A |
C |
5: 31,209,552 (GRCm39) |
Q72P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,543 (GRCm39) |
|
probably null |
Het |
| Best3 |
A |
T |
10: 116,860,377 (GRCm39) |
T546S |
probably benign |
Het |
| Brd3 |
T |
C |
2: 27,353,960 (GRCm39) |
K51E |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 86,034,147 (GRCm39) |
S525P |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,387,177 (GRCm39) |
I1701T |
probably benign |
Het |
| Chrna9 |
A |
T |
5: 66,128,427 (GRCm39) |
K208* |
probably null |
Het |
| Clec2l |
T |
A |
6: 38,657,127 (GRCm39) |
C197S |
probably damaging |
Het |
| Crp |
A |
G |
1: 172,526,086 (GRCm39) |
H57R |
probably benign |
Het |
| Cyp27b1 |
C |
A |
10: 126,887,964 (GRCm39) |
T492N |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,726,741 (GRCm39) |
I340F |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,528,987 (GRCm39) |
D241V |
probably damaging |
Het |
| Epg5 |
G |
T |
18: 78,058,049 (GRCm39) |
V1865L |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,819,614 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,144,658 (GRCm39) |
C4072Y |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,340 (GRCm39) |
I2664N |
possibly damaging |
Het |
| Gabrp |
A |
G |
11: 33,517,211 (GRCm39) |
|
probably null |
Het |
| Glis2 |
G |
T |
16: 4,431,946 (GRCm39) |
|
probably benign |
Het |
| Gm17654 |
A |
G |
14: 43,816,559 (GRCm39) |
S15P |
probably damaging |
Het |
| Gm21836 |
A |
G |
9: 124,252,736 (GRCm39) |
V14A |
unknown |
Het |
| Gon7 |
G |
A |
12: 102,720,380 (GRCm39) |
T84I |
possibly damaging |
Het |
| Greb1 |
G |
T |
12: 16,764,791 (GRCm39) |
Y447* |
probably null |
Het |
| Grip2 |
A |
T |
6: 91,756,812 (GRCm39) |
D546E |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,849,316 (GRCm39) |
|
probably null |
Het |
| Il36a |
T |
A |
2: 24,114,486 (GRCm39) |
F120L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,150,920 (GRCm39) |
V842A |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,331,366 (GRCm39) |
A404V |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,669 (GRCm39) |
V132A |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,710,646 (GRCm39) |
F262C |
probably benign |
Het |
| Msantd5f6 |
G |
T |
4: 73,319,571 (GRCm39) |
Q302K |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,836,614 (GRCm39) |
V732E |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,673 (GRCm39) |
|
probably null |
Het |
| Or10d5 |
A |
C |
9: 39,861,389 (GRCm39) |
I226S |
probably damaging |
Het |
| Or12d12 |
T |
C |
17: 37,610,942 (GRCm39) |
I124V |
probably damaging |
Het |
| Or5k1b |
T |
C |
16: 58,580,984 (GRCm39) |
Y185C |
probably damaging |
Het |
| Oxgr1 |
G |
T |
14: 120,259,552 (GRCm39) |
Y218* |
probably null |
Het |
| Paf1 |
A |
G |
7: 28,095,397 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,997,878 (GRCm39) |
K316* |
probably null |
Het |
| Plac8 |
T |
A |
5: 100,704,371 (GRCm39) |
M109L |
probably benign |
Het |
| Plagl2 |
A |
T |
2: 153,074,239 (GRCm39) |
C221S |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,103,846 (GRCm39) |
D870G |
probably damaging |
Het |
| Polr2k |
T |
A |
15: 36,175,143 (GRCm39) |
M1K |
probably null |
Het |
| Prdm9 |
T |
C |
17: 15,775,416 (GRCm39) |
H276R |
probably damaging |
Het |
| Resf1 |
C |
A |
6: 149,227,551 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,914 (GRCm39) |
I184V |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,417,481 (GRCm39) |
E26G |
possibly damaging |
Het |
| Skil |
T |
C |
3: 31,171,600 (GRCm39) |
S575P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,108,158 (GRCm39) |
L306P |
probably damaging |
Het |
| Slc20a1 |
G |
T |
2: 129,042,429 (GRCm39) |
W166L |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snrnp200 |
G |
T |
2: 127,073,661 (GRCm39) |
G1353V |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,940,964 (GRCm39) |
V50E |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,258,224 (GRCm39) |
I173T |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,743,061 (GRCm39) |
F1183I |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,707 (GRCm39) |
D1988G |
probably damaging |
Het |
| Tank |
T |
A |
2: 61,480,292 (GRCm39) |
I276N |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,401 (GRCm39) |
W652R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,984,980 (GRCm39) |
T42I |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,997,039 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
G |
1: 73,992,771 (GRCm39) |
S9P |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
| Trdv2-1 |
T |
C |
14: 54,183,863 (GRCm39) |
S32P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,674,818 (GRCm39) |
Y72* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,432,285 (GRCm39) |
P894S |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,129,877 (GRCm39) |
R666* |
probably null |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,845 (GRCm39) |
L86* |
probably null |
Het |
| Usp32 |
T |
A |
11: 84,913,085 (GRCm39) |
N941I |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,512,504 (GRCm39) |
V2322M |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,136 (GRCm39) |
Y294F |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,755 (GRCm39) |
N256S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,888,197 (GRCm39) |
S557P |
probably damaging |
Het |
| Xrra1 |
C |
A |
7: 99,547,690 (GRCm39) |
P293Q |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,110,388 (GRCm39) |
D79G |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,668 (GRCm39) |
Y347N |
probably damaging |
Het |
| Zfp740 |
T |
C |
15: 102,121,082 (GRCm39) |
C169R |
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 |
|
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'- AGCACCTACCTGCACTGTTC -3'
(R):5'- CTTAAAGATGGAAGGCTGTACTCTG -3'
Sequencing Primer
(F):5'- GTTCTCTTCTGACATTACAGTATGG -3'
(R):5'- GAAGGCTGTACTCTGCTACTCAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation