Incidental Mutation 'IGL00979:Abcb1b'
| ID |
27536 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcb1b
|
| Ensembl Gene |
ENSMUSG00000028970 |
| Gene Name |
ATP-binding cassette, sub-family B member 1B |
| Synonyms |
mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
IGL00979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 8875293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000199955]
|
| AlphaFold |
P06795 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009058
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
50 |
342 |
1.4e-96 |
PFAM |
|
AAA
|
418 |
610 |
4.32e-21 |
SMART |
|
Pfam:ABC_membrane
|
709 |
984 |
1.9e-75 |
PFAM |
|
AAA
|
1060 |
1248 |
4.13e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199955
|
| SMART Domains |
Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4M2T|B
|
1 |
78 |
2e-26 |
PDB |
|
Blast:AAA
|
33 |
78 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted, knock-out(2) Gene trapped(8) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
| A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
| Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
| Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,391,444 (GRCm39) |
V144A |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
| Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,341 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,285,080 (GRCm39) |
L435P |
probably damaging |
Het |
| Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
| Pak6 |
C |
A |
2: 118,526,963 (GRCm39) |
L653I |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
| Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
| Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
| Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,113,638 (GRCm39) |
L109Q |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
| Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
| Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
| Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
| Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
| Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
| Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
probably benign |
Het |
|
| Other mutations in Abcb1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Abcb1b
|
APN |
5 |
8,877,704 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02157:Abcb1b
|
APN |
5 |
8,855,487 (GRCm39) |
splice site |
probably benign |
|
|
IGL02478:Abcb1b
|
APN |
5 |
8,856,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03174:Abcb1b
|
APN |
5 |
8,877,752 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03189:Abcb1b
|
APN |
5 |
8,895,814 (GRCm39) |
missense |
probably benign |
|
|
IGL03195:Abcb1b
|
APN |
5 |
8,903,607 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4283001:Abcb1b
|
UTSW |
5 |
8,863,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Abcb1b
|
UTSW |
5 |
8,875,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Abcb1b
|
UTSW |
5 |
8,903,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Abcb1b
|
UTSW |
5 |
8,877,409 (GRCm39) |
missense |
probably benign |
|
|
R0319:Abcb1b
|
UTSW |
5 |
8,877,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0358:Abcb1b
|
UTSW |
5 |
8,871,423 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0365:Abcb1b
|
UTSW |
5 |
8,856,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Abcb1b
|
UTSW |
5 |
8,903,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0521:Abcb1b
|
UTSW |
5 |
8,914,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Abcb1b
|
UTSW |
5 |
8,914,113 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0847:Abcb1b
|
UTSW |
5 |
8,895,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1037:Abcb1b
|
UTSW |
5 |
8,875,657 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1432:Abcb1b
|
UTSW |
5 |
8,887,771 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1437:Abcb1b
|
UTSW |
5 |
8,871,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1520:Abcb1b
|
UTSW |
5 |
8,864,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Abcb1b
|
UTSW |
5 |
8,848,782 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1700:Abcb1b
|
UTSW |
5 |
8,899,537 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1973:Abcb1b
|
UTSW |
5 |
8,862,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1993:Abcb1b
|
UTSW |
5 |
8,871,322 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2157:Abcb1b
|
UTSW |
5 |
8,874,791 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2207:Abcb1b
|
UTSW |
5 |
8,874,803 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2968:Abcb1b
|
UTSW |
5 |
8,911,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Abcb1b
|
UTSW |
5 |
8,863,581 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4223:Abcb1b
|
UTSW |
5 |
8,863,722 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4379:Abcb1b
|
UTSW |
5 |
8,915,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4674:Abcb1b
|
UTSW |
5 |
8,860,615 (GRCm39) |
missense |
probably benign |
|
|
R4964:Abcb1b
|
UTSW |
5 |
8,911,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Abcb1b
|
UTSW |
5 |
8,862,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5167:Abcb1b
|
UTSW |
5 |
8,862,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5216:Abcb1b
|
UTSW |
5 |
8,863,705 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5328:Abcb1b
|
UTSW |
5 |
8,887,694 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5391:Abcb1b
|
UTSW |
5 |
8,855,481 (GRCm39) |
missense |
probably null |
0.00 |
|
R5399:Abcb1b
|
UTSW |
5 |
8,877,410 (GRCm39) |
missense |
probably benign |
|
|
R6047:Abcb1b
|
UTSW |
5 |
8,856,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Abcb1b
|
UTSW |
5 |
8,874,245 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6293:Abcb1b
|
UTSW |
5 |
8,903,493 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6493:Abcb1b
|
UTSW |
5 |
8,874,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Abcb1b
|
UTSW |
5 |
8,903,491 (GRCm39) |
missense |
probably benign |
|
|
R6799:Abcb1b
|
UTSW |
5 |
8,862,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6944:Abcb1b
|
UTSW |
5 |
8,863,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Abcb1b
|
UTSW |
5 |
8,855,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7227:Abcb1b
|
UTSW |
5 |
8,875,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Abcb1b
|
UTSW |
5 |
8,915,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Abcb1b
|
UTSW |
5 |
8,878,866 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7681:Abcb1b
|
UTSW |
5 |
8,899,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Abcb1b
|
UTSW |
5 |
8,887,747 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7860:Abcb1b
|
UTSW |
5 |
8,882,258 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7961:Abcb1b
|
UTSW |
5 |
8,878,870 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8009:Abcb1b
|
UTSW |
5 |
8,878,870 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8054:Abcb1b
|
UTSW |
5 |
8,874,272 (GRCm39) |
missense |
probably benign |
|
|
R8226:Abcb1b
|
UTSW |
5 |
8,871,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8283:Abcb1b
|
UTSW |
5 |
8,856,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8286:Abcb1b
|
UTSW |
5 |
8,914,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Abcb1b
|
UTSW |
5 |
8,848,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8387:Abcb1b
|
UTSW |
5 |
8,874,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Abcb1b
|
UTSW |
5 |
8,911,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Abcb1b
|
UTSW |
5 |
8,915,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8715:Abcb1b
|
UTSW |
5 |
8,862,750 (GRCm39) |
missense |
probably benign |
|
|
R8874:Abcb1b
|
UTSW |
5 |
8,875,671 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9236:Abcb1b
|
UTSW |
5 |
8,874,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9292:Abcb1b
|
UTSW |
5 |
8,862,843 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9300:Abcb1b
|
UTSW |
5 |
8,875,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9387:Abcb1b
|
UTSW |
5 |
8,875,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9389:Abcb1b
|
UTSW |
5 |
8,875,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Abcb1b
|
UTSW |
5 |
8,862,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9694:Abcb1b
|
UTSW |
5 |
8,899,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Abcb1b
|
UTSW |
5 |
8,874,515 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0061:Abcb1b
|
UTSW |
5 |
8,914,269 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Abcb1b
|
UTSW |
5 |
8,877,441 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Abcb1b
|
UTSW |
5 |
8,887,596 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation