Incidental Mutation 'R8350:Abcb4'
| ID |
660212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb4
|
| Ensembl Gene |
ENSMUSG00000042476 |
| Gene Name |
ATP-binding cassette, sub-family B member 4 |
| Synonyms |
mdr-2, Mdr2, Pgy2, Pgy-2 |
| MMRRC Submission |
067868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 8978578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003717
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
| 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 null
Transcript: ENSMUST00000196067
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
| 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 |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
G |
8: 56,325,224 (GRCm39) |
V410A |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,850,815 (GRCm39) |
T575A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,353 (GRCm39) |
K877E |
possibly damaging |
Het |
| Arpin |
A |
T |
7: 79,581,615 (GRCm39) |
I35N |
possibly damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcas1 |
T |
C |
2: 170,248,220 (GRCm39) |
N234D |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,668 (GRCm39) |
G649E |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,322,181 (GRCm39) |
L516Q |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,512,494 (GRCm39) |
V90L |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,896,552 (GRCm39) |
Y91C |
possibly damaging |
Het |
| Cystm1 |
T |
C |
18: 36,526,303 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,327,231 (GRCm39) |
Q727K |
probably damaging |
Het |
| Dpf3 |
G |
A |
12: 83,397,625 (GRCm39) |
R80C |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,127,667 (GRCm39) |
T882M |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,345,795 (GRCm39) |
K104R |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,793,614 (GRCm39) |
V1172A |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,548 (GRCm39) |
Q120* |
probably null |
Het |
| Grin1 |
G |
A |
2: 25,188,323 (GRCm39) |
R448C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,949 (GRCm39) |
P411S |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,165 (GRCm39) |
D335E |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,503,960 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,947 (GRCm39) |
E874G |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,824,973 (GRCm39) |
C1529* |
probably null |
Het |
| Mau2 |
A |
T |
8: 70,495,242 (GRCm39) |
Y32N |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,227,998 (GRCm39) |
N638K |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,200 (GRCm39) |
D1611E |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,805 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,603,688 (GRCm39) |
V138A |
probably damaging |
Het |
| Opcml |
A |
T |
9: 28,813,463 (GRCm39) |
E251D |
probably benign |
Het |
| Or13c7e-ps1 |
T |
A |
4: 43,782,175 (GRCm39) |
I52F |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,176 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or1o1 |
A |
T |
17: 37,717,260 (GRCm39) |
M274L |
probably benign |
Het |
| Pde1b |
A |
T |
15: 103,411,901 (GRCm39) |
M1L |
probably benign |
Het |
| Pias1 |
G |
A |
9: 62,859,266 (GRCm39) |
H72Y |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,277,679 (GRCm39) |
V225I |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,483 (GRCm39) |
V661A |
probably benign |
Het |
| Ptpn1 |
T |
A |
2: 167,816,161 (GRCm39) |
F225Y |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,868,898 (GRCm39) |
V1425M |
probably damaging |
Het |
| Rbfox1 |
C |
A |
16: 7,094,954 (GRCm39) |
S111R |
probably benign |
Het |
| Rbm24 |
T |
C |
13: 46,572,676 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
G |
4: 121,027,954 (GRCm39) |
K224T |
probably damaging |
Het |
| Scgb2b3 |
G |
A |
7: 31,061,485 (GRCm39) |
L5F |
probably damaging |
Het |
| Sdr42e2 |
T |
C |
7: 120,419,873 (GRCm39) |
L206P |
probably damaging |
Het |
| Serpinb9g |
A |
G |
13: 33,676,854 (GRCm39) |
E212G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,257,146 (GRCm39) |
Y524C |
probably damaging |
Het |
| Sh3pxd2a |
C |
A |
19: 47,258,277 (GRCm39) |
E475D |
probably null |
Het |
| Skil |
A |
G |
3: 31,151,603 (GRCm39) |
T42A |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,311,207 (GRCm39) |
V203A |
probably damaging |
Het |
| Sugp2 |
C |
T |
8: 70,695,641 (GRCm39) |
R205* |
probably null |
Het |
| Tle1 |
C |
A |
4: 72,057,203 (GRCm39) |
|
probably benign |
Het |
| Tmem63c |
T |
A |
12: 87,119,660 (GRCm39) |
L318Q |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,717,759 (GRCm39) |
I248V |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,741 (GRCm39) |
C707* |
probably null |
Het |
| Xdh |
C |
T |
17: 74,241,837 (GRCm39) |
G154D |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,355,713 (GRCm39) |
D3491E |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,341,869 (GRCm39) |
L77P |
probably damaging |
Het |
| Zer1 |
C |
T |
2: 29,991,862 (GRCm39) |
E653K |
probably damaging |
Het |
| Zfyve27 |
T |
C |
19: 42,167,911 (GRCm39) |
V151A |
probably benign |
Het |
| Zim1 |
T |
A |
7: 6,685,064 (GRCm39) |
S129C |
probably damaging |
Het |
|
| Other mutations in Abcb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Abcb4
|
APN |
5 |
9,000,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00663:Abcb4
|
APN |
5 |
8,977,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00671:Abcb4
|
APN |
5 |
8,980,745 (GRCm39) |
nonsense |
probably null |
|
|
IGL00822:Abcb4
|
APN |
5 |
9,000,046 (GRCm39) |
missense |
probably benign |
|
|
IGL01080:Abcb4
|
APN |
5 |
8,984,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Abcb4
|
APN |
5 |
9,000,678 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01329:Abcb4
|
APN |
5 |
8,944,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01483:Abcb4
|
APN |
5 |
8,977,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01594:Abcb4
|
APN |
5 |
8,996,071 (GRCm39) |
splice site |
probably null |
|
|
IGL01785:Abcb4
|
APN |
5 |
8,965,058 (GRCm39) |
nonsense |
probably null |
|
|
IGL01968:Abcb4
|
APN |
5 |
8,977,913 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02579:Abcb4
|
APN |
5 |
9,005,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02654:Abcb4
|
APN |
5 |
8,977,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02658:Abcb4
|
APN |
5 |
8,984,240 (GRCm39) |
missense |
probably benign |
|
|
IGL03229:Abcb4
|
APN |
5 |
8,990,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03335:Abcb4
|
APN |
5 |
8,985,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:Abcb4
|
UTSW |
5 |
8,946,597 (GRCm39) |
small deletion |
probably benign |
|
|
P0014:Abcb4
|
UTSW |
5 |
9,000,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:Abcb4
|
UTSW |
5 |
8,989,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0311:Abcb4
|
UTSW |
5 |
8,984,243 (GRCm39) |
missense |
probably benign |
|
|
R0420:Abcb4
|
UTSW |
5 |
8,991,050 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0449:Abcb4
|
UTSW |
5 |
8,989,885 (GRCm39) |
nonsense |
probably null |
|
|
R0609:Abcb4
|
UTSW |
5 |
8,997,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1459:Abcb4
|
UTSW |
5 |
8,968,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1812:Abcb4
|
UTSW |
5 |
8,978,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1944:Abcb4
|
UTSW |
5 |
8,980,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Abcb4
|
UTSW |
5 |
8,955,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2256:Abcb4
|
UTSW |
5 |
9,008,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Abcb4
|
UTSW |
5 |
8,946,610 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4112:Abcb4
|
UTSW |
5 |
8,986,783 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4354:Abcb4
|
UTSW |
5 |
8,968,771 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4512:Abcb4
|
UTSW |
5 |
8,978,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Abcb4
|
UTSW |
5 |
8,997,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4628:Abcb4
|
UTSW |
5 |
8,957,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4708:Abcb4
|
UTSW |
5 |
8,965,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4714:Abcb4
|
UTSW |
5 |
8,980,906 (GRCm39) |
splice site |
probably null |
|
|
R4754:Abcb4
|
UTSW |
5 |
8,960,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Abcb4
|
UTSW |
5 |
8,985,180 (GRCm39) |
missense |
probably benign |
|
|
R4896:Abcb4
|
UTSW |
5 |
8,957,267 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4944:Abcb4
|
UTSW |
5 |
8,984,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4994:Abcb4
|
UTSW |
5 |
8,978,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Abcb4
|
UTSW |
5 |
8,959,054 (GRCm39) |
splice site |
probably null |
|
|
R5537:Abcb4
|
UTSW |
5 |
9,005,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Abcb4
|
UTSW |
5 |
8,984,320 (GRCm39) |
missense |
probably benign |
|
|
R5833:Abcb4
|
UTSW |
5 |
9,008,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Abcb4
|
UTSW |
5 |
8,980,806 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6006:Abcb4
|
UTSW |
5 |
8,996,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6146:Abcb4
|
UTSW |
5 |
8,946,587 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6183:Abcb4
|
UTSW |
5 |
8,968,718 (GRCm39) |
missense |
probably benign |
|
|
R6260:Abcb4
|
UTSW |
5 |
8,984,219 (GRCm39) |
nonsense |
probably null |
|
|
R6561:Abcb4
|
UTSW |
5 |
8,977,825 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7016:Abcb4
|
UTSW |
5 |
8,986,843 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7081:Abcb4
|
UTSW |
5 |
8,984,263 (GRCm39) |
missense |
probably benign |
|
|
R7326:Abcb4
|
UTSW |
5 |
8,984,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7375:Abcb4
|
UTSW |
5 |
8,968,671 (GRCm39) |
missense |
probably benign |
|
|
R7787:Abcb4
|
UTSW |
5 |
8,959,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Abcb4
|
UTSW |
5 |
8,984,203 (GRCm39) |
missense |
probably benign |
|
|
R8128:Abcb4
|
UTSW |
5 |
9,008,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Abcb4
|
UTSW |
5 |
8,996,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8447:Abcb4
|
UTSW |
5 |
8,957,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8710:Abcb4
|
UTSW |
5 |
9,005,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8777-TAIL:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8837:Abcb4
|
UTSW |
5 |
8,986,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8987:Abcb4
|
UTSW |
5 |
8,977,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9098:Abcb4
|
UTSW |
5 |
9,008,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Abcb4
|
UTSW |
5 |
8,986,849 (GRCm39) |
nonsense |
probably null |
|
|
R9210:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Abcb4
|
UTSW |
5 |
8,977,960 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9242:Abcb4
|
UTSW |
5 |
8,949,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Abcb4
|
UTSW |
5 |
9,008,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Abcb4
|
UTSW |
5 |
8,977,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Abcb4
|
UTSW |
5 |
8,946,594 (GRCm39) |
frame shift |
probably null |
|
|
RF047:Abcb4
|
UTSW |
5 |
8,946,595 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Abcb4
|
UTSW |
5 |
9,009,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abcb4
|
UTSW |
5 |
8,989,906 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAATGAGTAGGTTTCTGGAGC -3'
(R):5'- ACTGAACCATGGAGGAAACC -3'
Sequencing Primer
(F):5'- TTCTGTTTAGAAATTTGACACCCTGG -3'
(R):5'- GGAAACCTGTAAAGATCATTGACCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation