Incidental Mutation 'R0521:Abcb1b'
ID |
48527 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb1b
|
Ensembl Gene |
ENSMUSG00000028970 |
Gene Name |
ATP-binding cassette, sub-family B member 1B |
Synonyms |
mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1 |
MMRRC Submission |
038714-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.462)
|
Stock # |
R0521 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8914238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1203
(A1203T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
|
AlphaFold |
P06795 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009058
AA Change: A1203T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: A1203T
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 |
probably benign
Transcript: ENSMUST00000198650
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
T |
4: 144,182,464 (GRCm39) |
S335T |
probably damaging |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Agt |
C |
A |
8: 125,283,839 (GRCm39) |
E427* |
probably null |
Het |
Angel1 |
G |
A |
12: 86,769,681 (GRCm39) |
S193F |
probably benign |
Het |
Ankrd16 |
T |
C |
2: 11,794,692 (GRCm39) |
V359A |
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,367,432 (GRCm39) |
D36G |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,931,902 (GRCm39) |
C766S |
probably benign |
Het |
Asic1 |
C |
T |
15: 99,596,700 (GRCm39) |
R499C |
probably damaging |
Het |
Atpsckmt |
T |
G |
15: 31,606,103 (GRCm39) |
S20R |
probably benign |
Het |
Bank1 |
C |
T |
3: 135,919,703 (GRCm39) |
C364Y |
probably damaging |
Het |
Bmerb1 |
T |
A |
16: 13,804,676 (GRCm39) |
S8T |
possibly damaging |
Het |
Bpifa5 |
C |
A |
2: 154,008,869 (GRCm39) |
D223E |
probably benign |
Het |
Capn5 |
C |
T |
7: 97,782,089 (GRCm39) |
R217Q |
probably damaging |
Het |
Ccm2 |
G |
A |
11: 6,540,886 (GRCm39) |
S184N |
probably damaging |
Het |
Ces5a |
T |
A |
8: 94,252,286 (GRCm39) |
D202V |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,322,528 (GRCm39) |
I284T |
probably benign |
Het |
Cog7 |
C |
A |
7: 121,540,392 (GRCm39) |
|
probably null |
Het |
Col13a1 |
A |
T |
10: 61,698,525 (GRCm39) |
M512K |
unknown |
Het |
Cps1 |
A |
C |
1: 67,254,723 (GRCm39) |
D1304A |
probably benign |
Het |
Crhbp |
C |
A |
13: 95,580,403 (GRCm39) |
|
probably null |
Het |
Ctdspl2 |
T |
A |
2: 121,837,368 (GRCm39) |
C377* |
probably null |
Het |
Ctsl |
G |
A |
13: 64,513,032 (GRCm39) |
L297F |
possibly damaging |
Het |
Ddost |
A |
G |
4: 138,038,046 (GRCm39) |
T262A |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,761,313 (GRCm39) |
|
probably null |
Het |
Ddx54 |
A |
G |
5: 120,764,927 (GRCm39) |
I769V |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,745,507 (GRCm39) |
I1463N |
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,660,872 (GRCm39) |
Y404N |
possibly damaging |
Het |
Epb42 |
T |
A |
2: 120,859,631 (GRCm39) |
K186* |
probably null |
Het |
Farp2 |
A |
G |
1: 93,504,543 (GRCm39) |
|
probably null |
Het |
Fbxl9 |
A |
T |
8: 106,039,425 (GRCm39) |
L617Q |
probably damaging |
Het |
Fev |
C |
A |
1: 74,921,692 (GRCm39) |
R86L |
possibly damaging |
Het |
Foxb2 |
G |
T |
19: 16,849,820 (GRCm39) |
C395* |
probably null |
Het |
Foxn3 |
A |
G |
12: 99,175,765 (GRCm39) |
V261A |
probably benign |
Het |
Fsd1 |
A |
G |
17: 56,298,245 (GRCm39) |
D190G |
probably benign |
Het |
Gm9930 |
A |
T |
10: 9,410,547 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma2 |
A |
T |
11: 98,545,727 (GRCm39) |
K260* |
probably null |
Het |
Hdac7 |
G |
A |
15: 97,704,380 (GRCm39) |
Q497* |
probably null |
Het |
Hic1 |
G |
A |
11: 75,057,713 (GRCm39) |
P392L |
possibly damaging |
Het |
Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
Ifna6 |
G |
T |
4: 88,745,887 (GRCm39) |
V79F |
probably benign |
Het |
Il20ra |
A |
T |
10: 19,635,388 (GRCm39) |
Q543L |
probably damaging |
Het |
Itk |
T |
A |
11: 46,251,115 (GRCm39) |
D163V |
probably damaging |
Het |
Kcnu1 |
T |
G |
8: 26,400,916 (GRCm39) |
L688R |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,545,771 (GRCm39) |
S977R |
possibly damaging |
Het |
Kng1 |
G |
A |
16: 22,879,232 (GRCm39) |
A45T |
possibly damaging |
Het |
Map1a |
T |
G |
2: 121,136,234 (GRCm39) |
L2350R |
probably damaging |
Het |
Mdfic |
A |
G |
6: 15,799,755 (GRCm39) |
D212G |
probably benign |
Het |
Ms4a1 |
C |
A |
19: 11,236,043 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
A |
9: 59,801,635 (GRCm39) |
F1944L |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,915,689 (GRCm39) |
W928R |
probably damaging |
Het |
Nfatc2ip |
T |
G |
7: 125,995,751 (GRCm39) |
D46A |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,290,774 (GRCm38) |
Q419* |
probably null |
Het |
Nsd2 |
T |
A |
5: 34,000,682 (GRCm39) |
N66K |
probably damaging |
Het |
Nsmce4a |
T |
C |
7: 130,138,732 (GRCm39) |
H304R |
probably damaging |
Het |
Odad2 |
G |
A |
18: 7,222,676 (GRCm39) |
P531L |
possibly damaging |
Het |
Or10a2 |
T |
A |
7: 106,673,965 (GRCm39) |
L310Q |
possibly damaging |
Het |
Or2y11 |
C |
T |
11: 49,443,291 (GRCm39) |
T239M |
probably damaging |
Het |
Or4a2 |
T |
C |
2: 89,248,544 (GRCm39) |
Y71C |
probably damaging |
Het |
Or51v8 |
T |
A |
7: 103,319,696 (GRCm39) |
I181F |
possibly damaging |
Het |
Or7e168 |
G |
A |
9: 19,720,156 (GRCm39) |
V181I |
probably benign |
Het |
Or8c20 |
A |
C |
9: 38,260,499 (GRCm39) |
N40T |
probably damaging |
Het |
Or8h9 |
C |
T |
2: 86,789,190 (GRCm39) |
G204D |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,714,427 (GRCm39) |
E265G |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,814,193 (GRCm39) |
S4188G |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,559 (GRCm39) |
N37K |
probably damaging |
Het |
R3hdm1 |
G |
A |
1: 128,121,440 (GRCm39) |
V315I |
probably benign |
Het |
Rab24 |
A |
T |
13: 55,468,738 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
A |
T |
11: 74,332,592 (GRCm39) |
M71K |
probably damaging |
Het |
Rergl |
T |
G |
6: 139,473,524 (GRCm39) |
K42T |
probably damaging |
Het |
Septin5 |
T |
C |
16: 18,443,647 (GRCm39) |
T92A |
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
Slc17a8 |
A |
G |
10: 89,412,192 (GRCm39) |
S414P |
probably benign |
Het |
Thnsl2 |
A |
T |
6: 71,111,243 (GRCm39) |
D208E |
probably damaging |
Het |
Tie1 |
A |
C |
4: 118,333,343 (GRCm39) |
I841R |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,551,505 (GRCm39) |
D292A |
probably damaging |
Het |
Tnfaip8l1 |
A |
T |
17: 56,478,727 (GRCm39) |
T6S |
probably damaging |
Het |
Trim17 |
T |
A |
11: 58,859,320 (GRCm39) |
V178E |
probably damaging |
Het |
Ttc27 |
A |
T |
17: 75,163,544 (GRCm39) |
R717S |
possibly damaging |
Het |
Upk2 |
G |
T |
9: 44,365,418 (GRCm39) |
P50Q |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,307,880 (GRCm39) |
C2319S |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,742,178 (GRCm39) |
D184V |
probably damaging |
Het |
Vmn2r9 |
C |
A |
5: 108,996,154 (GRCm39) |
G165* |
probably null |
Het |
Xkr6 |
A |
T |
14: 64,056,871 (GRCm39) |
I261F |
probably benign |
Het |
Xpnpep3 |
T |
G |
15: 81,311,693 (GRCm39) |
I133S |
possibly damaging |
Het |
Yipf1 |
A |
G |
4: 107,193,387 (GRCm39) |
Y91C |
probably benign |
Het |
Zfp442 |
T |
C |
2: 150,253,169 (GRCm39) |
D31G |
possibly damaging |
Het |
Zfp628 |
A |
T |
7: 4,922,939 (GRCm39) |
Q387L |
probably damaging |
Het |
Zfp804a |
C |
T |
2: 82,089,761 (GRCm39) |
Q1197* |
probably null |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
IGL00979:Abcb1b
|
APN |
5 |
8,875,293 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCATCAGCTCTGTTTCTGTAACGAC -3'
(R):5'- ACTCTTAACCTTTCTCAGGCTGCAAG -3'
Sequencing Primer
(F):5'- TGTTTCTGTAACGACCAAATTCC -3'
(R):5'- TTAGGGCACTGTCAGCCTC -3'
|
Posted On |
2013-06-12 |