Incidental Mutation 'R8770:Atp8b4'
| ID |
664328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
068625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126184915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 916
(Y916C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040128]
[ENSMUST00000040149]
|
| AlphaFold |
A2ANX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040128
AA Change: Y916C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: Y916C
| 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: Y916C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: Y916C
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,104,199 (GRCm39) |
|
probably null |
Het |
| Aox1 |
A |
T |
1: 58,378,763 (GRCm39) |
K1004M |
probably benign |
Het |
| Atn1 |
C |
T |
6: 124,722,601 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
C |
6: 149,420,448 (GRCm39) |
L766S |
probably damaging |
Het |
| Bmpr2 |
T |
G |
1: 59,884,684 (GRCm39) |
D223E |
probably benign |
Het |
| Bpifc |
T |
G |
10: 85,801,129 (GRCm39) |
R406S |
probably damaging |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,006,926 (GRCm39) |
I607N |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,321,822 (GRCm39) |
Y235C |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,363,117 (GRCm39) |
Q163R |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,254,277 (GRCm39) |
M222L |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,208 (GRCm39) |
V358A |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,420,945 (GRCm39) |
R492W |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,311,298 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,410 (GRCm39) |
I1880V |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,752,298 (GRCm39) |
T793A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,456,106 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 125,996,727 (GRCm39) |
T71A |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,274,938 (GRCm39) |
M19K |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,209,285 (GRCm39) |
F382L |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,046,596 (GRCm39) |
C455S |
probably benign |
Het |
| Fcmr |
T |
A |
1: 130,803,799 (GRCm39) |
V201E |
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,824,974 (GRCm39) |
E397G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,443,951 (GRCm39) |
V73D |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,145,976 (GRCm39) |
N84S |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,258,843 (GRCm39) |
V39A |
possibly damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,460 (GRCm39) |
E115V |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,171,481 (GRCm39) |
E494G |
unknown |
Het |
| Myo7b |
C |
T |
18: 32,114,124 (GRCm39) |
D1076N |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,887 (GRCm39) |
D53G |
probably damaging |
Het |
| Noc4l |
A |
G |
5: 110,796,758 (GRCm39) |
L508P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,025,850 (GRCm39) |
F157L |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,336 (GRCm39) |
Y959H |
probably damaging |
Het |
| Or13c7d |
T |
G |
4: 43,770,813 (GRCm39) |
N66T |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,171 (GRCm39) |
M96T |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,316,599 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Plb1 |
T |
C |
5: 32,404,853 (GRCm39) |
Y4H |
unknown |
Het |
| Rad21 |
A |
G |
15: 51,831,749 (GRCm39) |
I444T |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,943 (GRCm39) |
I459V |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,656,129 (GRCm39) |
T917A |
unknown |
Het |
| Sdc4 |
C |
T |
2: 164,270,822 (GRCm39) |
V146I |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,198 (GRCm39) |
S184G |
probably benign |
Het |
| Shkbp1 |
C |
A |
7: 27,051,311 (GRCm39) |
R218S |
possibly damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,039,607 (GRCm39) |
D255G |
|
Het |
| Slc7a2 |
T |
G |
8: 41,352,267 (GRCm39) |
V110G |
probably damaging |
Het |
| Slf1 |
A |
C |
13: 77,194,766 (GRCm39) |
V853G |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,029,718 (GRCm39) |
V102A |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,036,788 (GRCm39) |
K50R |
probably damaging |
Het |
| Spink10 |
A |
T |
18: 62,786,532 (GRCm39) |
R47S |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,451,206 (GRCm39) |
F2720Y |
probably null |
Het |
| Tdrkh |
T |
A |
3: 94,336,440 (GRCm39) |
V459D |
probably damaging |
Het |
| Tent5a |
A |
G |
9: 85,208,803 (GRCm39) |
Y7H |
probably benign |
Het |
| Tlcd2 |
T |
A |
11: 75,360,630 (GRCm39) |
D224E |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,230,304 (GRCm39) |
Q87L |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,838,186 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,789,961 (GRCm39) |
G378R |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,892 (GRCm39) |
Q2210K |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,934,435 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,050,675 (GRCm39) |
I238N |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,153,548 (GRCm39) |
D675E |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,795 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,417 (GRCm39) |
H656R |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,980 (GRCm39) |
Y323C |
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 |
|
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 |
|
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'- CCTCAGAACAGAAGAGGCAAACTTG -3'
(R):5'- ATCAGGGCCAGGCTCATATC -3'
Sequencing Primer
(F):5'- GAAGGCCTTGTGACCCATGTAAC -3'
(R):5'- GGCCAGGCTCATATCTCTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation