Incidental Mutation 'R0964:Atp8b4'
| ID |
81450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b4
|
| Ensembl Gene |
ENSMUSG00000060131 |
| Gene Name |
ATPase, class I, type 8B, member 4 |
| Synonyms |
Im |
| MMRRC Submission |
039093-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126162893-126342589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126179413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 973
(F973I)
|
| 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: F973I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046444
Gene: ENSMUSG00000060131
AA Change: F973I
| 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: F973I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047302
Gene: ENSMUSG00000060131
AA Change: F973I
| 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 |
0.8805 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
| Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
| Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
| Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
| Ccser2 |
C |
T |
14: 36,630,965 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
| Ddx24 |
C |
T |
12: 103,390,166 (GRCm39) |
R275H |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
| Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,297 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
| Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
| Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
| Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
| Sbno2 |
G |
T |
10: 79,920,093 (GRCm39) |
T46N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
| Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
| Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
| Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,260 (GRCm39) |
I923V |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
| Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
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 |
|
|
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 |
|
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'- GCATGGACAAAGGTGAGTGCATCTG -3'
(R):5'- TGGGGATGAAAGCCTCTGCATAGC -3'
Sequencing Primer
(F):5'- acaaacacacacacacacac -3'
(R):5'- TCTTCCCAGGGACTAGTAGGTAAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation