Incidental Mutation 'R7349:Atp8b4'
| ID |
570401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
045435-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126167265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1078
(V1078A)
|
| 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: V1078A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: V1078A
| 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: V1078A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: V1078A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 60,990,717 (GRCm39) |
T326S |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,817 (GRCm39) |
H91Q |
probably benign |
Het |
| Acp3 |
T |
A |
9: 104,168,657 (GRCm39) |
I403F |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,742,090 (GRCm39) |
M489L |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,039,435 (GRCm39) |
I565T |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,473 (GRCm39) |
D563G |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,789,392 (GRCm39) |
Y386* |
probably null |
Het |
| Bsn |
T |
C |
9: 107,987,982 (GRCm39) |
D2590G |
unknown |
Het |
| Casp12 |
T |
C |
9: 5,345,527 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,868 (GRCm39) |
S787P |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,969,097 (GRCm39) |
T485A |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,184,674 (GRCm39) |
V23A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,121,426 (GRCm39) |
H810R |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,642,854 (GRCm39) |
Y120F |
unknown |
Het |
| Dmgdh |
C |
T |
13: 93,888,741 (GRCm39) |
T793I |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Eif4e1b |
T |
C |
13: 54,932,006 (GRCm39) |
V30A |
probably benign |
Het |
| Ercc5 |
T |
G |
1: 44,220,068 (GRCm39) |
D1113E |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,157,321 (GRCm39) |
N2321D |
possibly damaging |
Het |
| Fbrs |
T |
C |
7: 127,081,971 (GRCm39) |
L237P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ftsj3 |
G |
A |
11: 106,140,572 (GRCm39) |
T761I |
probably damaging |
Het |
| Gdi2 |
C |
A |
13: 3,606,395 (GRCm39) |
T157N |
probably benign |
Het |
| Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
| Gtpbp10 |
T |
C |
5: 5,605,379 (GRCm39) |
E108G |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,448,726 (GRCm39) |
L358P |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,835,971 (GRCm39) |
C271R |
probably benign |
Het |
| Hspb1 |
C |
T |
5: 135,918,187 (GRCm39) |
T178M |
possibly damaging |
Het |
| Htr3b |
C |
T |
9: 48,847,319 (GRCm39) |
V399M |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,803 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,326,786 (GRCm39) |
|
probably null |
Het |
| Iyd |
G |
T |
10: 3,495,638 (GRCm39) |
V99F |
possibly damaging |
Het |
| Lrrc36 |
G |
A |
8: 106,178,900 (GRCm39) |
G365D |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,570,148 (GRCm39) |
I858F |
unknown |
Het |
| Med12l |
A |
T |
3: 59,165,746 (GRCm39) |
D1488V |
probably damaging |
Het |
| Ms4a6c |
T |
A |
19: 11,455,555 (GRCm39) |
N121K |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,072,943 (GRCm39) |
Q300P |
probably benign |
Het |
| Nlrp3 |
G |
A |
11: 59,438,912 (GRCm39) |
R163H |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Optc |
T |
G |
1: 133,825,617 (GRCm39) |
D356A |
probably damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,857 (GRCm39) |
H143R |
probably benign |
Het |
| Or9s15 |
T |
C |
1: 92,524,904 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pdzd2 |
C |
G |
15: 12,399,291 (GRCm39) |
V812L |
probably damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,655,278 (GRCm39) |
F691S |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,453,238 (GRCm39) |
F319L |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,378,350 (GRCm39) |
T1035A |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,611,339 (GRCm39) |
T261A |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,278,160 (GRCm39) |
F312S |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,654 (GRCm39) |
I587N |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,593 (GRCm39) |
H272L |
probably damaging |
Het |
| Prkce |
G |
A |
17: 86,800,783 (GRCm39) |
A400T |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,951,660 (GRCm39) |
S324P |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,468,834 (GRCm39) |
N1432I |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,328,515 (GRCm39) |
S746P |
probably benign |
Het |
| Rnf220 |
G |
A |
4: 117,135,015 (GRCm39) |
A412V |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,781,315 (GRCm39) |
A154T |
probably benign |
Het |
| Sirpb1a |
A |
T |
3: 15,475,664 (GRCm39) |
N290K |
probably damaging |
Het |
| Sirpb1c |
A |
T |
3: 15,886,310 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 46,248,860 (GRCm39) |
R704* |
probably null |
Het |
| Spast |
T |
C |
17: 74,680,319 (GRCm39) |
V427A |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,482,937 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,352,067 (GRCm39) |
G1043C |
|
Het |
| Tmem205 |
C |
T |
9: 21,832,410 (GRCm39) |
C167Y |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,608,718 (GRCm39) |
L897* |
probably null |
Het |
| Trim36 |
A |
G |
18: 46,302,495 (GRCm39) |
F518L |
probably benign |
Het |
| Ttc12 |
T |
G |
9: 49,359,267 (GRCm39) |
T402P |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,600 (GRCm39) |
V506A |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,682 (GRCm39) |
L604* |
probably null |
Het |
| Wdr83 |
T |
C |
8: 85,806,460 (GRCm39) |
N113D |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
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 |
|
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'- AAAATTCCCTTAGTCATTCCTGTGC -3'
(R):5'- ATCAGGTTAGCACTTCCCCG -3'
Sequencing Primer
(F):5'- TGCCTCTGTTTGGAAAGAGAAG -3'
(R):5'- CGGGCTTTCCTAATCGTGTCAAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation