Incidental Mutation 'R4846:Abcb4'
| ID |
372157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb4
|
| Ensembl Gene |
ENSMUSG00000042476 |
| Gene Name |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
| Synonyms |
Pgy-2, Mdr2, Pgy2, mdr-2 |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8893717-8959231 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8935180 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 687
(A687V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003717
AA Change: A687V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: A687V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
54 |
342 |
2e-94 |
PFAM |
|
AAA
|
418 |
610 |
3.97e-20 |
SMART |
|
Pfam:ABC_membrane
|
708 |
982 |
6.3e-77 |
PFAM |
|
AAA
|
1058 |
1246 |
4.49e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196067
AA Change: A687V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: A687V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
54 |
344 |
2.4e-95 |
PFAM |
|
AAA
|
418 |
610 |
6.2e-22 |
SMART |
|
Pfam:ABC_membrane
|
708 |
882 |
1.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199954
|
| Meta Mutation Damage Score |
0.1252 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
Strain: 1857236
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,155,943 (GRCm38) |
H299L |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,629,266 (GRCm38) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 40,795,011 (GRCm38) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,454,494 (GRCm38) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,426,301 (GRCm38) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,897,767 (GRCm38) |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,363,454 (GRCm38) |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,942,299 (GRCm38) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,784,081 (GRCm38) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,392,301 (GRCm38) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,421,102 (GRCm38) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,484,690 (GRCm38) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,545,384 (GRCm38) |
Q159* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,321,493 (GRCm38) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 (GRCm38) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,616,809 (GRCm38) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,954,311 (GRCm38) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,536,893 (GRCm38) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,371,837 (GRCm38) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,829,962 (GRCm38) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,864,267 (GRCm38) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 35,019,670 (GRCm38) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,299,522 (GRCm38) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,920,606 (GRCm38) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,821,148 (GRCm38) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,342,972 (GRCm38) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,479,113 (GRCm38) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,256,997 (GRCm38) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,929 (GRCm38) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,482,836 (GRCm38) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,808,536 (GRCm38) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,163,163 (GRCm38) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,175,579 (GRCm38) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 4,986,777 (GRCm38) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 (GRCm38) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,350,786 (GRCm38) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,419,184 (GRCm38) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,779,930 (GRCm38) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,644,583 (GRCm38) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 88,806,578 (GRCm38) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 76,062,239 (GRCm38) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,967,828 (GRCm38) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,742,233 (GRCm38) |
D591G |
probably benign |
Het |
| St5 |
C |
A |
7: 109,556,836 (GRCm38) |
E236* |
probably null |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm38) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,834,408 (GRCm38) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,588,897 (GRCm38) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,376,883 (GRCm38) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,813,185 (GRCm38) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,541,065 (GRCm38) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,617,294 (GRCm38) |
Q92R |
possibly damaging |
Het |
|
| Other mutations in Abcb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Abcb4
|
APN |
5 |
8,950,073 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00663:Abcb4
|
APN |
5 |
8,927,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00671:Abcb4
|
APN |
5 |
8,930,745 (GRCm38) |
nonsense |
probably null |
|
|
IGL00822:Abcb4
|
APN |
5 |
8,950,046 (GRCm38) |
missense |
probably benign |
|
|
IGL01080:Abcb4
|
APN |
5 |
8,934,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01152:Abcb4
|
APN |
5 |
8,950,678 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01329:Abcb4
|
APN |
5 |
8,894,166 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01483:Abcb4
|
APN |
5 |
8,927,871 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01594:Abcb4
|
APN |
5 |
8,946,071 (GRCm38) |
splice site |
probably null |
|
|
IGL01785:Abcb4
|
APN |
5 |
8,915,058 (GRCm38) |
nonsense |
probably null |
|
|
IGL01968:Abcb4
|
APN |
5 |
8,927,913 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02579:Abcb4
|
APN |
5 |
8,955,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02654:Abcb4
|
APN |
5 |
8,927,826 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02658:Abcb4
|
APN |
5 |
8,934,240 (GRCm38) |
missense |
probably benign |
|
|
IGL03229:Abcb4
|
APN |
5 |
8,940,936 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03335:Abcb4
|
APN |
5 |
8,935,258 (GRCm38) |
missense |
probably benign |
0.00 |
|
FR4737:Abcb4
|
UTSW |
5 |
8,896,597 (GRCm38) |
small deletion |
probably benign |
|
|
P0014:Abcb4
|
UTSW |
5 |
8,950,083 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0102:Abcb4
|
UTSW |
5 |
8,909,194 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0102:Abcb4
|
UTSW |
5 |
8,909,194 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0309:Abcb4
|
UTSW |
5 |
8,939,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0311:Abcb4
|
UTSW |
5 |
8,934,243 (GRCm38) |
missense |
probably benign |
|
|
R0420:Abcb4
|
UTSW |
5 |
8,941,050 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0449:Abcb4
|
UTSW |
5 |
8,939,885 (GRCm38) |
nonsense |
probably null |
|
|
R0609:Abcb4
|
UTSW |
5 |
8,947,376 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1459:Abcb4
|
UTSW |
5 |
8,918,662 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1470:Abcb4
|
UTSW |
5 |
8,940,968 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1470:Abcb4
|
UTSW |
5 |
8,940,968 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1812:Abcb4
|
UTSW |
5 |
8,928,578 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1944:Abcb4
|
UTSW |
5 |
8,930,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2002:Abcb4
|
UTSW |
5 |
8,905,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2256:Abcb4
|
UTSW |
5 |
8,958,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3116:Abcb4
|
UTSW |
5 |
8,896,610 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4112:Abcb4
|
UTSW |
5 |
8,936,783 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4354:Abcb4
|
UTSW |
5 |
8,918,771 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4512:Abcb4
|
UTSW |
5 |
8,928,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4588:Abcb4
|
UTSW |
5 |
8,947,328 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4628:Abcb4
|
UTSW |
5 |
8,907,399 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4708:Abcb4
|
UTSW |
5 |
8,915,125 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4714:Abcb4
|
UTSW |
5 |
8,930,906 (GRCm38) |
splice site |
probably null |
|
|
R4754:Abcb4
|
UTSW |
5 |
8,910,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4896:Abcb4
|
UTSW |
5 |
8,907,267 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4944:Abcb4
|
UTSW |
5 |
8,934,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4994:Abcb4
|
UTSW |
5 |
8,928,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5022:Abcb4
|
UTSW |
5 |
8,909,054 (GRCm38) |
splice site |
probably null |
|
|
R5537:Abcb4
|
UTSW |
5 |
8,955,485 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5754:Abcb4
|
UTSW |
5 |
8,934,320 (GRCm38) |
missense |
probably benign |
|
|
R5833:Abcb4
|
UTSW |
5 |
8,958,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5934:Abcb4
|
UTSW |
5 |
8,930,806 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6006:Abcb4
|
UTSW |
5 |
8,946,026 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6146:Abcb4
|
UTSW |
5 |
8,896,587 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6183:Abcb4
|
UTSW |
5 |
8,918,718 (GRCm38) |
missense |
probably benign |
|
|
R6260:Abcb4
|
UTSW |
5 |
8,934,219 (GRCm38) |
nonsense |
probably null |
|
|
R6561:Abcb4
|
UTSW |
5 |
8,927,825 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7016:Abcb4
|
UTSW |
5 |
8,936,843 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7081:Abcb4
|
UTSW |
5 |
8,934,263 (GRCm38) |
missense |
probably benign |
|
|
R7326:Abcb4
|
UTSW |
5 |
8,934,226 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7375:Abcb4
|
UTSW |
5 |
8,918,671 (GRCm38) |
missense |
probably benign |
|
|
R7787:Abcb4
|
UTSW |
5 |
8,909,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7836:Abcb4
|
UTSW |
5 |
8,934,203 (GRCm38) |
missense |
probably benign |
|
|
R8128:Abcb4
|
UTSW |
5 |
8,958,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8350:Abcb4
|
UTSW |
5 |
8,928,578 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8438:Abcb4
|
UTSW |
5 |
8,946,120 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8447:Abcb4
|
UTSW |
5 |
8,907,278 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8710:Abcb4
|
UTSW |
5 |
8,955,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8777:Abcb4
|
UTSW |
5 |
8,939,894 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8777-TAIL:Abcb4
|
UTSW |
5 |
8,939,894 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8837:Abcb4
|
UTSW |
5 |
8,936,873 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8987:Abcb4
|
UTSW |
5 |
8,927,931 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9098:Abcb4
|
UTSW |
5 |
8,958,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9167:Abcb4
|
UTSW |
5 |
8,936,849 (GRCm38) |
nonsense |
probably null |
|
|
R9210:Abcb4
|
UTSW |
5 |
8,955,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9212:Abcb4
|
UTSW |
5 |
8,955,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Abcb4
|
UTSW |
5 |
8,927,960 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9242:Abcb4
|
UTSW |
5 |
8,899,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9376:Abcb4
|
UTSW |
5 |
8,958,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9476:Abcb4
|
UTSW |
5 |
8,927,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF015:Abcb4
|
UTSW |
5 |
8,896,594 (GRCm38) |
frame shift |
probably null |
|
|
RF047:Abcb4
|
UTSW |
5 |
8,896,595 (GRCm38) |
frame shift |
probably null |
|
|
Z1176:Abcb4
|
UTSW |
5 |
8,959,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Abcb4
|
UTSW |
5 |
8,939,906 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCTGTGTGTAAGATTCATGC -3'
(R):5'- GCTATTAACCCCAGAATTGGTGG -3'
Sequencing Primer
(F):5'- GATTCATGCTCGACAGTAGGTAC -3'
(R):5'- CCAGAATTGGTGGGGCTTTAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation