Incidental Mutation 'R6157:Abcb1b'
ID |
489643 |
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 |
044304-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R6157 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8874245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 390
(N390I)
|
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: N390I
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: N390I
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
Validation Efficiency |
93% (40/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
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 |
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'- GACCTGCCCATTTAGCCATC -3'
(R):5'- AGTCAATGTTAGGCCGGTTTCC -3'
Sequencing Primer
(F):5'- GCCCATTTAGCCATCTAATTAGAAG -3'
(R):5'- TTTCCAGGACAGATGGATGCAC -3'
|
Posted On |
2017-10-10 |