Incidental Mutation 'R4674:Abcb1b'
ID |
500720 |
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 |
041929-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R4674 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8860615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 112
(I112T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000196580]
[ENSMUST00000199955]
|
AlphaFold |
P06795 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009058
AA Change: I112T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: I112T
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: ENSMUST00000196580
|
SMART Domains |
Protein: ENSMUSP00000143612 Gene: ENSMUSG00000028970
Domain | Start | End | E-Value | Type |
PDB:4M2T|B
|
1 |
78 |
2e-26 |
PDB |
Blast:AAA
|
33 |
78 |
2e-11 |
BLAST |
|
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
T |
C |
15: 101,100,939 (GRCm39) |
I367T |
possibly damaging |
Het |
Akr1b8 |
G |
A |
6: 34,333,359 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
C |
3: 88,979,783 (GRCm39) |
V2769A |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,795 (GRCm39) |
D928V |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,085,223 (GRCm39) |
V66E |
possibly damaging |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Cbx2 |
T |
A |
11: 118,919,935 (GRCm39) |
I500N |
probably damaging |
Het |
Ccdc82 |
A |
T |
9: 13,252,260 (GRCm39) |
H184L |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,700,887 (GRCm39) |
H216L |
possibly damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,410 (GRCm39) |
T36A |
probably benign |
Het |
Cebpd |
A |
G |
16: 15,705,385 (GRCm39) |
D66G |
probably damaging |
Het |
Clec1b |
C |
A |
6: 129,377,097 (GRCm39) |
L47I |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,043,451 (GRCm39) |
D43G |
probably damaging |
Het |
Crbn |
T |
A |
6: 106,767,932 (GRCm39) |
Q173L |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,489 (GRCm39) |
V2100A |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,324,345 (GRCm39) |
L374P |
probably damaging |
Het |
Dhx16 |
T |
A |
17: 36,196,831 (GRCm39) |
V607E |
probably damaging |
Het |
Dido1 |
A |
G |
2: 180,329,352 (GRCm39) |
S357P |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,405 (GRCm39) |
I399F |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,337 (GRCm39) |
E123G |
possibly damaging |
Het |
Dstyk |
A |
G |
1: 132,391,128 (GRCm39) |
D843G |
probably benign |
Het |
Efcab12 |
C |
A |
6: 115,800,610 (GRCm39) |
V138F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,511,689 (GRCm39) |
F493L |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,822,256 (GRCm39) |
F220S |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,597,530 (GRCm39) |
F644L |
probably damaging |
Het |
F13b |
A |
G |
1: 139,429,542 (GRCm39) |
Y20C |
unknown |
Het |
Fam184b |
T |
A |
5: 45,740,230 (GRCm39) |
K319* |
probably null |
Het |
Flrt2 |
T |
A |
12: 95,747,462 (GRCm39) |
L600* |
probably null |
Het |
Gbgt1 |
T |
C |
2: 28,388,453 (GRCm39) |
F46S |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,763,759 (GRCm39) |
E1464G |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,423,959 (GRCm39) |
V501A |
possibly damaging |
Het |
Heca |
T |
C |
10: 17,791,057 (GRCm39) |
H333R |
probably benign |
Het |
Hirip3 |
G |
A |
7: 126,463,834 (GRCm39) |
|
probably null |
Het |
Igsf8 |
G |
A |
1: 172,146,479 (GRCm39) |
W51* |
probably null |
Het |
Kif21a |
C |
A |
15: 90,824,748 (GRCm39) |
R1342L |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,710,510 (GRCm39) |
N75D |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,366,190 (GRCm39) |
Y1292F |
probably benign |
Het |
Macroh2a1 |
A |
C |
13: 56,230,997 (GRCm39) |
C297G |
possibly damaging |
Het |
Mapk14 |
A |
G |
17: 28,963,996 (GRCm39) |
|
probably null |
Het |
Mgat5 |
T |
A |
1: 127,318,495 (GRCm39) |
V330D |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
A |
T |
13: 100,580,682 (GRCm39) |
F188L |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,901,731 (GRCm39) |
S1035P |
probably benign |
Het |
Ndn |
T |
A |
7: 61,998,570 (GRCm39) |
W139R |
probably damaging |
Het |
Nes |
T |
C |
3: 87,879,102 (GRCm39) |
V198A |
possibly damaging |
Het |
Or4c107 |
G |
T |
2: 88,789,216 (GRCm39) |
M135I |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,250 (GRCm39) |
I43V |
possibly damaging |
Het |
Or51ab3 |
T |
G |
7: 103,201,183 (GRCm39) |
L64V |
probably damaging |
Het |
Or52p1 |
T |
A |
7: 104,267,631 (GRCm39) |
C248* |
probably null |
Het |
Or5b111 |
T |
A |
19: 13,291,178 (GRCm39) |
H157L |
probably benign |
Het |
Or5p72 |
T |
C |
7: 108,022,309 (GRCm39) |
V177A |
possibly damaging |
Het |
Pcf11 |
G |
A |
7: 92,308,985 (GRCm39) |
|
probably benign |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Pipox |
T |
G |
11: 77,784,596 (GRCm39) |
Q4P |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,439 (GRCm39) |
T327I |
probably null |
Het |
Plppr1 |
C |
T |
4: 49,323,384 (GRCm39) |
R225W |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,571,412 (GRCm39) |
V145D |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,942,329 (GRCm39) |
Y83H |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,996,954 (GRCm39) |
L970Q |
probably null |
Het |
Rimklb |
C |
A |
6: 122,433,242 (GRCm39) |
E303* |
probably null |
Het |
Rpl13a |
A |
T |
7: 44,776,242 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
A |
18: 89,029,135 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
G |
A |
8: 111,571,137 (GRCm39) |
R10W |
probably damaging |
Het |
Skint4 |
G |
A |
4: 111,975,430 (GRCm39) |
C130Y |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,070 (GRCm39) |
S593P |
possibly damaging |
Het |
Ssb |
A |
G |
2: 69,699,194 (GRCm39) |
Q209R |
probably benign |
Het |
Stap1 |
A |
T |
5: 86,229,044 (GRCm39) |
I71L |
probably benign |
Het |
Syna |
C |
A |
5: 134,587,209 (GRCm39) |
R580L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,226,591 (GRCm39) |
M1111K |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,758,306 (GRCm39) |
L689P |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,623,686 (GRCm39) |
E1406G |
possibly damaging |
Het |
Tcstv7b |
T |
C |
13: 120,702,362 (GRCm39) |
W53R |
probably damaging |
Het |
Tdrd5 |
A |
C |
1: 156,105,005 (GRCm39) |
C463W |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,674,627 (GRCm39) |
F1150L |
probably damaging |
Het |
Tia1 |
T |
A |
6: 86,397,382 (GRCm39) |
F118L |
probably damaging |
Het |
Trav3-1 |
A |
T |
14: 52,818,460 (GRCm39) |
T45S |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,761,711 (GRCm39) |
Y235F |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,415,827 (GRCm39) |
N44S |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,525,255 (GRCm39) |
H304Q |
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,801,069 (GRCm39) |
I161V |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,826,399 (GRCm39) |
H789R |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,895,814 (GRCm39) |
T182A |
possibly damaging |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,824,980 (GRCm39) |
D167E |
possibly damaging |
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 |
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 |
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'- GGCCAGCAGGAAAGTGTTTG -3'
(R):5'- CCAGCCTTATTACCATTATTACTAGGG -3'
Sequencing Primer
(F):5'- CTGAATTGATCACTTGAATCCTGC -3'
(R):5'- CCATTATTACTAGGGAAACTGTGC -3'
|
Posted On |
2017-12-01 |