Incidental Mutation 'R6915:Atp8b4'
| ID |
539266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
045036-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6915 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 126200834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 778
(L778*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040128
AA Change: L778*
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: L778*
| 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
AA Change: L778*
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: L778*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
C |
A |
12: 88,422,390 (GRCm39) |
L334I |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,551 (GRCm39) |
M436K |
probably benign |
Het |
| Ankmy1 |
A |
C |
1: 92,816,173 (GRCm39) |
F314V |
probably null |
Het |
| Arid5b |
G |
A |
10: 68,022,042 (GRCm39) |
Q183* |
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,221 (GRCm39) |
N739K |
probably benign |
Het |
| Carns1 |
T |
G |
19: 4,219,912 (GRCm39) |
H441P |
probably benign |
Het |
| Cby2 |
T |
A |
14: 75,830,098 (GRCm39) |
T32S |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,523 (GRCm39) |
W394R |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,459,153 (GRCm39) |
I693F |
probably benign |
Het |
| Cldn3 |
A |
G |
5: 135,015,426 (GRCm39) |
Q43R |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,796,686 (GRCm39) |
P1608L |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,853,454 (GRCm39) |
Y28F |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,424,512 (GRCm39) |
I269F |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,844,256 (GRCm39) |
I92F |
probably damaging |
Het |
| Dennd4a |
T |
A |
9: 64,759,771 (GRCm39) |
L292* |
probably null |
Het |
| Dhx38 |
T |
C |
8: 110,286,231 (GRCm39) |
E353G |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,145,966 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,762,488 (GRCm39) |
I794V |
possibly damaging |
Het |
| Eif2b5 |
T |
A |
16: 20,321,500 (GRCm39) |
V351D |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,380 (GRCm39) |
V1041E |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,898,388 (GRCm39) |
K869R |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,044 (GRCm39) |
V160F |
probably benign |
Het |
| Gak |
A |
T |
5: 108,750,816 (GRCm39) |
Y365N |
probably benign |
Het |
| Ghrhr |
T |
A |
6: 55,360,104 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
A |
G |
14: 19,415,933 (GRCm38) |
M202T |
probably benign |
Het |
| Havcr2 |
C |
T |
11: 46,366,738 (GRCm39) |
S177L |
probably benign |
Het |
| Hkdc1 |
G |
C |
10: 62,237,711 (GRCm39) |
R353G |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,510,444 (GRCm39) |
G200S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lair1 |
A |
T |
7: 4,058,952 (GRCm39) |
V12E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,562,293 (GRCm39) |
N26D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,900,629 (GRCm39) |
D3168E |
probably benign |
Het |
| Map6 |
G |
A |
7: 98,917,454 (GRCm39) |
A76T |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,843,011 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,587,312 (GRCm39) |
F2718L |
probably benign |
Het |
| Nek11 |
C |
G |
9: 105,270,256 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,832 (GRCm39) |
E136G |
unknown |
Het |
| Or2z8 |
C |
A |
8: 72,811,574 (GRCm39) |
L17I |
probably benign |
Het |
| Or4d6 |
A |
G |
19: 12,086,490 (GRCm39) |
V140A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,641 (GRCm39) |
E846V |
probably benign |
Het |
| Pcdhga8 |
C |
T |
18: 37,858,998 (GRCm39) |
T18M |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,128,106 (GRCm39) |
M61V |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,156,947 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,789,035 (GRCm39) |
I272F |
possibly damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prkce |
G |
C |
17: 86,800,835 (GRCm39) |
G417A |
probably damaging |
Het |
| Ptar1 |
A |
G |
19: 23,680,501 (GRCm39) |
N106D |
probably damaging |
Het |
| Rbm15 |
C |
A |
3: 107,239,627 (GRCm39) |
R257L |
probably benign |
Het |
| Rptor |
T |
G |
11: 119,647,171 (GRCm39) |
M254R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,865,257 (GRCm39) |
W350R |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,760,487 (GRCm39) |
Y1532S |
probably damaging |
Het |
| Serpina1a |
C |
A |
12: 103,820,110 (GRCm39) |
V379L |
possibly damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,888 (GRCm39) |
V272I |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,111 (GRCm39) |
H3123Y |
probably benign |
Het |
| Taar9 |
C |
T |
10: 23,984,910 (GRCm39) |
E175K |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,908,897 (GRCm39) |
Y348F |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,687 (GRCm39) |
I415T |
probably damaging |
Het |
| Tm7sf2 |
G |
T |
19: 6,118,342 (GRCm39) |
R718S |
probably damaging |
Het |
| Tmem229a |
G |
T |
6: 24,954,657 (GRCm39) |
Q366K |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,286 (GRCm39) |
D297G |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,087,886 (GRCm39) |
F269L |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,512 (GRCm39) |
Y738* |
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 |
|
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'- CATTGCATCACAGGCTGAAGC -3'
(R):5'- CCAACAGCTCAGTATTCATGTCTTG -3'
Sequencing Primer
(F):5'- ACTCCATGCGTGCAGTATG -3'
(R):5'- AGCTCAGTATTCATGTCTTGTTACTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation