Incidental Mutation 'R1432:Abcb1b'
ID |
162291 |
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 |
039487-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R1432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8887771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 886
(K886E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000199955]
|
AlphaFold |
P06795 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009058
AA Change: K886E
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: K886E
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: ENSMUST00000197961
|
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 |
|
Meta Mutation Damage Score |
0.1081 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
98% (90/92) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,217,361 (GRCm39) |
|
probably null |
Het |
9130401M01Rik |
A |
T |
15: 57,892,256 (GRCm39) |
L117Q |
probably damaging |
Het |
Acaa2 |
A |
T |
18: 74,920,198 (GRCm39) |
I9F |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,929,901 (GRCm39) |
S386T |
probably damaging |
Het |
Acsm2 |
A |
T |
7: 119,172,798 (GRCm39) |
I138F |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,540,342 (GRCm39) |
Y1424C |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,952,588 (GRCm39) |
F171Y |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,148,183 (GRCm39) |
V1079A |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Armc8 |
C |
T |
9: 99,405,185 (GRCm39) |
|
probably benign |
Het |
Catsperb |
A |
G |
12: 101,588,476 (GRCm39) |
Y953C |
probably damaging |
Het |
Cdk13 |
G |
A |
13: 17,893,001 (GRCm39) |
A720V |
probably damaging |
Het |
Chka |
T |
C |
19: 3,924,809 (GRCm39) |
|
probably benign |
Het |
Clcc1 |
T |
C |
3: 108,575,418 (GRCm39) |
I165T |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Dip2c |
C |
A |
13: 9,603,340 (GRCm39) |
P297Q |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,914,153 (GRCm39) |
W4429R |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,478,082 (GRCm39) |
V138A |
possibly damaging |
Het |
Dus4l |
T |
C |
12: 31,698,770 (GRCm39) |
N78S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,895,533 (GRCm39) |
|
probably benign |
Het |
Epm2a |
T |
A |
10: 11,266,587 (GRCm39) |
Y111N |
probably damaging |
Het |
Gm773 |
T |
C |
X: 55,247,377 (GRCm39) |
T52A |
probably benign |
Het |
Gpam |
C |
A |
19: 55,067,693 (GRCm39) |
M483I |
probably damaging |
Het |
Gpr12 |
T |
C |
5: 146,520,235 (GRCm39) |
H229R |
probably damaging |
Het |
Gpr149 |
T |
C |
3: 62,438,439 (GRCm39) |
T573A |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hells |
T |
A |
19: 38,945,628 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,751 (GRCm39) |
N3102K |
probably benign |
Het |
Herc3 |
A |
T |
6: 58,893,827 (GRCm39) |
T968S |
possibly damaging |
Het |
Ift88 |
A |
G |
14: 57,674,736 (GRCm39) |
Y69C |
probably benign |
Het |
Incenp |
G |
A |
19: 9,862,890 (GRCm39) |
T388M |
unknown |
Het |
Jrkl |
A |
G |
9: 13,245,337 (GRCm39) |
F108S |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,542 (GRCm39) |
E54G |
possibly damaging |
Het |
Kif6 |
T |
A |
17: 49,927,728 (GRCm39) |
F58L |
probably damaging |
Het |
Klk14 |
T |
C |
7: 43,344,342 (GRCm39) |
S218P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,655,319 (GRCm39) |
M19T |
probably benign |
Het |
Llgl1 |
G |
T |
11: 60,599,380 (GRCm39) |
G454C |
probably damaging |
Het |
Lyrm4 |
A |
G |
13: 36,276,898 (GRCm39) |
V33A |
probably benign |
Het |
Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
Mgam |
T |
A |
6: 40,733,301 (GRCm39) |
M692K |
probably damaging |
Het |
Mmp28 |
C |
T |
11: 83,333,765 (GRCm39) |
R392H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,210,788 (GRCm39) |
T1699M |
probably damaging |
Het |
Mrps11 |
T |
C |
7: 78,433,310 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,866 (GRCm39) |
N504S |
probably benign |
Het |
Msmo1 |
A |
G |
8: 65,180,650 (GRCm39) |
|
probably benign |
Het |
Mst1 |
A |
G |
9: 107,961,403 (GRCm39) |
E571G |
probably benign |
Het |
Myh14 |
T |
C |
7: 44,265,723 (GRCm39) |
E1585G |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,613,332 (GRCm39) |
C824R |
probably damaging |
Het |
Ncapd3 |
C |
T |
9: 26,981,168 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
G |
GGTTCTTC |
7: 26,163,622 (GRCm39) |
|
probably null |
Het |
Nos1 |
C |
T |
5: 118,087,684 (GRCm39) |
|
probably benign |
Het |
Notch3 |
T |
C |
17: 32,383,198 (GRCm39) |
S47G |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,221,371 (GRCm39) |
Y122C |
probably damaging |
Het |
Or10ak12 |
T |
C |
4: 118,666,435 (GRCm39) |
M209V |
probably benign |
Het |
Or1j11 |
C |
T |
2: 36,311,655 (GRCm39) |
L82F |
probably damaging |
Het |
Or5a1 |
G |
T |
19: 12,097,603 (GRCm39) |
R158S |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,807 (GRCm39) |
T42I |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,986,483 (GRCm39) |
V48E |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,548 (GRCm39) |
L145M |
possibly damaging |
Het |
Otog |
G |
T |
7: 45,950,007 (GRCm39) |
V2490F |
probably damaging |
Het |
Pibf1 |
T |
C |
14: 99,350,425 (GRCm39) |
V191A |
probably benign |
Het |
Pip |
A |
G |
6: 41,826,852 (GRCm39) |
M66V |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,449,771 (GRCm39) |
R830C |
probably benign |
Het |
Prkca |
A |
T |
11: 107,830,346 (GRCm39) |
V248E |
probably benign |
Het |
Prmt7 |
T |
A |
8: 106,963,916 (GRCm39) |
L253* |
probably null |
Het |
Prrc2a |
G |
T |
17: 35,372,888 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
A |
G |
9: 89,894,853 (GRCm39) |
D1091G |
probably benign |
Het |
Rbm7 |
C |
A |
9: 48,401,245 (GRCm39) |
G161V |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,152,773 (GRCm39) |
I736N |
probably damaging |
Het |
Skint6 |
A |
G |
4: 112,726,721 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,803,195 (GRCm39) |
H10Y |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,821 (GRCm39) |
|
probably benign |
Het |
Stk40 |
T |
C |
4: 126,030,626 (GRCm39) |
L282P |
probably damaging |
Het |
Tas2r110 |
A |
G |
6: 132,845,331 (GRCm39) |
N121D |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 55,893,758 (GRCm39) |
Y1272H |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,665,970 (GRCm39) |
F164S |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,836,021 (GRCm39) |
D696G |
probably damaging |
Het |
Trdmt1 |
T |
C |
2: 13,524,657 (GRCm39) |
Y266C |
probably damaging |
Het |
Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
Twf2 |
T |
A |
9: 106,092,012 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,926,635 (GRCm39) |
T580A |
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,152,285 (GRCm39) |
|
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,155 (GRCm39) |
N394S |
possibly damaging |
Het |
Wrn |
A |
T |
8: 33,809,169 (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 |
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 |
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'- ATGGGTGAATACGCCAACCTCCTC -3'
(R):5'- AATTGTTTGAAGGCCCTCCCCAG -3'
Sequencing Primer
(F):5'- GTCAACCACTTTAGTAACTGGGAAG -3'
(R):5'- TCCCCAGAGCAGACAGG -3'
|
Posted On |
2014-03-14 |