Incidental Mutation 'R7045:Atp8b4'
| ID |
547237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126214115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 706
(N706S)
|
| 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: N706S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: N706S
| 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: N706S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: N706S
| 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: 99.6%
- 20x: 98.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
A |
T |
12: 112,628,735 (GRCm39) |
Y18* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,806,393 (GRCm39) |
A583S |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,965,546 (GRCm39) |
V518A |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,200,865 (GRCm39) |
N111S |
probably damaging |
Het |
| Cnp |
A |
T |
11: 100,471,184 (GRCm39) |
R275S |
probably benign |
Het |
| Cs |
T |
A |
10: 128,188,586 (GRCm39) |
M104K |
probably benign |
Het |
| Ctcfl |
G |
A |
2: 172,954,167 (GRCm39) |
T310I |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,763 (GRCm39) |
I81V |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,719,706 (GRCm39) |
V30A |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dock6 |
G |
A |
9: 21,733,107 (GRCm39) |
A1062V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,067,395 (GRCm39) |
D172G |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,935,504 (GRCm39) |
D638G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,103,522 (GRCm39) |
A105S |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,750 (GRCm39) |
I548V |
probably benign |
Het |
| Gabrb2 |
G |
A |
11: 42,484,758 (GRCm39) |
A272T |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,794,707 (GRCm39) |
L287P |
probably damaging |
Het |
| Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,349 (GRCm39) |
G477C |
probably damaging |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Kiss1r |
A |
G |
10: 79,755,259 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
| Loxl4 |
G |
T |
19: 42,595,074 (GRCm39) |
N200K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,192,398 (GRCm39) |
V104A |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,293 (GRCm39) |
C902S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,809,485 (GRCm39) |
V385D |
probably benign |
Het |
| Mrpl28 |
T |
C |
17: 26,345,261 (GRCm39) |
F227S |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,448,896 (GRCm39) |
V289E |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,465,732 (GRCm39) |
V80A |
probably damaging |
Het |
| Nid2 |
C |
T |
14: 19,829,749 (GRCm39) |
A680V |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,269,226 (GRCm39) |
N145D |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,031,433 (GRCm39) |
I812N |
probably damaging |
Het |
| Or2ak6 |
A |
T |
11: 58,592,495 (GRCm39) |
|
probably benign |
Het |
| Or2g7 |
C |
T |
17: 38,378,862 (GRCm39) |
H267Y |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,757 (GRCm39) |
T133S |
probably damaging |
Het |
| Or52n4b |
A |
G |
7: 108,144,452 (GRCm39) |
K238R |
probably damaging |
Het |
| Or5b114-ps1 |
C |
A |
19: 13,352,336 (GRCm39) |
N3K |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,729 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,255 (GRCm39) |
S161G |
possibly damaging |
Het |
| Pcdhb6 |
A |
C |
18: 37,469,329 (GRCm39) |
Q750P |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,153,683 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rasgrf2 |
G |
T |
13: 92,159,100 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
A |
G |
7: 4,961,905 (GRCm39) |
I127T |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,722,039 (GRCm39) |
S817A |
probably benign |
Het |
| Speer4b |
A |
T |
5: 27,705,123 (GRCm39) |
N83K |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,201,207 (GRCm39) |
L1296Q |
probably damaging |
Het |
| Thap11 |
C |
A |
8: 106,582,215 (GRCm39) |
R75S |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,111,407 (GRCm39) |
L268R |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,781,269 (GRCm39) |
C498S |
unknown |
Het |
| Zfp507 |
T |
C |
7: 35,494,978 (GRCm39) |
T22A |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,712 (GRCm39) |
Y120C |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 72,667,093 (GRCm39) |
|
probably null |
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 |
|
|
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'- ACCTGGGAAATGTTGGAGGC -3'
(R):5'- GGCCAACTGTATCATATGATGCTTTG -3'
Sequencing Primer
(F):5'- AATGTTGGAGGCCCGAAG -3'
(R):5'- GTGTTCACTAACATCCATGGAGCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation