Incidental Mutation 'R2212:Atp8b4'
| ID |
239432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
040214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126217677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 613
(W613L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
[ENSMUST00000147517]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040128
AA Change: W613L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: W613L
| 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 damaging
Transcript: ENSMUST00000040149
AA Change: W613L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: W613L
| 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 |
0.8021 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,603,977 (GRCm39) |
Y6C |
probably damaging |
Het |
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
| Angptl4 |
A |
G |
17: 33,994,392 (GRCm39) |
I401T |
probably damaging |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Cibar1 |
A |
G |
4: 12,171,696 (GRCm39) |
|
probably null |
Het |
| Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
| Cyp4f39 |
A |
T |
17: 32,706,037 (GRCm39) |
E376V |
possibly damaging |
Het |
| Deup1 |
A |
T |
9: 15,511,139 (GRCm39) |
D213E |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,118,341 (GRCm39) |
S39G |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
| Fscn2 |
G |
T |
11: 120,252,417 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
| H2-M11 |
G |
A |
17: 36,859,822 (GRCm39) |
V272M |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,892,142 (GRCm39) |
F411Y |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,458,538 (GRCm39) |
Y775C |
probably damaging |
Het |
| Krt84 |
A |
C |
15: 101,440,973 (GRCm39) |
V73G |
probably benign |
Het |
| Lcp2 |
A |
C |
11: 34,020,995 (GRCm39) |
D117A |
probably benign |
Het |
| Lemd1 |
C |
A |
1: 132,156,024 (GRCm39) |
T22K |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,260 (GRCm39) |
D294G |
probably damaging |
Het |
| Mep1a |
G |
A |
17: 43,788,154 (GRCm39) |
A634V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Nsmaf |
C |
A |
4: 6,396,732 (GRCm39) |
L918F |
probably damaging |
Het |
| Or10d4 |
T |
A |
9: 39,580,524 (GRCm39) |
M57K |
probably damaging |
Het |
| Or2v2 |
C |
T |
11: 49,004,043 (GRCm39) |
C170Y |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,269 (GRCm39) |
N97K |
probably damaging |
Het |
| Phlda1 |
A |
T |
10: 111,343,029 (GRCm39) |
E255V |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,444,291 (GRCm39) |
Q291* |
probably null |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,379 (GRCm39) |
T73A |
possibly damaging |
Het |
| Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Serpina3j |
G |
A |
12: 104,280,985 (GRCm39) |
D53N |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Sry |
T |
A |
Y: 2,663,339 (GRCm39) |
N107I |
probably damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
| Syt1 |
G |
T |
10: 108,340,275 (GRCm39) |
P348T |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
| Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trim59 |
T |
C |
3: 68,944,876 (GRCm39) |
T155A |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubash3a |
A |
T |
17: 31,437,008 (GRCm39) |
Q208H |
probably damaging |
Het |
| Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,794,209 (GRCm39) |
|
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
|
|
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 |
|
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'- ACCATTGAAAGAGAACCATGTGC -3'
(R):5'- TTCCCATGTCTGAGGAGGTAC -3'
Sequencing Primer
(F):5'- GAACCATGTGCTATGTGTAAGATG -3'
(R):5'- GAGCCATGACAGCTATGTAATACTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation