Incidental Mutation 'R4818:Atp8b4'
| ID |
369975 |
| 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: 0.060)
|
| Stock # |
R4818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126164736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1193
(K1193N)
|
| 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: K1193N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: K1193N
| 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: K1193N
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: K1193N
| 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 |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,810 (GRCm39) |
E562G |
probably benign |
Het |
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| A930033H14Rik |
A |
T |
10: 69,048,190 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,536,135 (GRCm39) |
E511K |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,045,980 (GRCm39) |
|
probably null |
Het |
| Abhd5 |
T |
A |
9: 122,192,865 (GRCm39) |
|
probably null |
Het |
| Adra2b |
G |
A |
2: 127,206,012 (GRCm39) |
W171* |
probably null |
Het |
| Ahcyl |
G |
A |
16: 45,974,555 (GRCm39) |
T274I |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,573,897 (GRCm39) |
Y799H |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,286,772 (GRCm39) |
V46A |
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,381,639 (GRCm39) |
E374G |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,250,484 (GRCm39) |
V412I |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,730,072 (GRCm39) |
E41G |
possibly damaging |
Het |
| C4a |
C |
T |
17: 35,035,975 (GRCm39) |
|
noncoding transcript |
Het |
| Chst2 |
C |
T |
9: 95,287,417 (GRCm39) |
D310N |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,327,170 (GRCm39) |
Q52R |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,874,583 (GRCm39) |
I842V |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,743,511 (GRCm39) |
S1167P |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
| Epha10 |
T |
A |
4: 124,780,007 (GRCm39) |
|
probably null |
Het |
| Epha6 |
C |
A |
16: 59,474,426 (GRCm39) |
R1117L |
probably damaging |
Het |
| Fdx2 |
T |
C |
9: 20,979,160 (GRCm39) |
I144V |
possibly damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,106 (GRCm39) |
W81* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,946,808 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,286,853 (GRCm39) |
I577M |
probably damaging |
Het |
| Kansl2 |
G |
A |
15: 98,424,542 (GRCm39) |
T296I |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,387 (GRCm39) |
F501L |
probably benign |
Het |
| Kirrel2 |
A |
T |
7: 30,149,293 (GRCm39) |
V579D |
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,925,005 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,943,088 (GRCm39) |
D132V |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,057,989 (GRCm39) |
K40E |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,027,038 (GRCm39) |
S275P |
probably benign |
Het |
| Mettl25b |
C |
A |
3: 87,832,305 (GRCm39) |
R293L |
probably benign |
Het |
| Mrpl44 |
A |
G |
1: 79,758,694 (GRCm39) |
I281V |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,698,505 (GRCm39) |
M1K |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,067,081 (GRCm39) |
G179R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,531,568 (GRCm39) |
T739A |
possibly damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,011 (GRCm39) |
V778I |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,797,690 (GRCm39) |
|
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,889,842 (GRCm39) |
N24S |
probably benign |
Het |
| Obox7 |
T |
A |
7: 14,398,410 (GRCm39) |
L108Q |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,209,968 (GRCm39) |
F95I |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,108,869 (GRCm39) |
V263A |
probably damaging |
Het |
| Pdlim1 |
C |
T |
19: 40,211,580 (GRCm39) |
V238I |
probably damaging |
Het |
| Pik3ip1 |
G |
A |
11: 3,280,928 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,442 (GRCm39) |
V284A |
possibly damaging |
Het |
| Rad9b |
G |
A |
5: 122,477,839 (GRCm39) |
T179I |
probably damaging |
Het |
| Sirt4 |
G |
T |
5: 115,617,785 (GRCm39) |
D290E |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 112,812,589 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
C |
8: 69,492,951 (GRCm39) |
I466S |
probably damaging |
Het |
| Slc35e4 |
C |
T |
11: 3,862,889 (GRCm39) |
R100H |
probably benign |
Het |
| Sptbn5 |
T |
G |
2: 119,898,449 (GRCm39) |
K470Q |
probably benign |
Het |
| Tas1r1 |
C |
G |
4: 152,117,131 (GRCm39) |
V168L |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,222 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,163,236 (GRCm39) |
Q862K |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,981 (GRCm39) |
C132S |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,962,885 (GRCm39) |
I68T |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,128 (GRCm39) |
V30A |
probably benign |
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 |
|
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'- ATTGGACAGTGCCCATCTGG -3'
(R):5'- CAGGTCGAGCTCTAGAAGATCTGG -3'
Sequencing Primer
(F):5'- ATCTGGCCTGGAATCCTGCAG -3'
(R):5'- GCTCTAGAAGATCTGGATACGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation