Incidental Mutation 'R0408:Abcb1b'
ID |
40081 |
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 |
038610-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.462)
|
Stock # |
R0408 (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 A
at 8903446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1032
(N1032K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000199955]
|
AlphaFold |
P06795 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009058
AA Change: N1032K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: N1032K
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: ENSMUST00000196048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196819
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197961
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198650
AA Change: N13K
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199994
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,756,457 (GRCm39) |
I1416T |
probably damaging |
Het |
Aco2 |
T |
C |
15: 81,797,319 (GRCm39) |
|
probably null |
Het |
Akap13 |
C |
T |
7: 75,396,544 (GRCm39) |
L2514F |
probably damaging |
Het |
Aldh1a3 |
A |
G |
7: 66,055,798 (GRCm39) |
V331A |
probably damaging |
Het |
Arid3a |
T |
A |
10: 79,786,667 (GRCm39) |
D473E |
probably benign |
Het |
Atg9a |
A |
G |
1: 75,161,939 (GRCm39) |
S536P |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,100,317 (GRCm38) |
S668C |
probably damaging |
Het |
Bcar3 |
A |
T |
3: 122,302,033 (GRCm39) |
I243F |
probably damaging |
Het |
Bend6 |
G |
A |
1: 33,901,834 (GRCm39) |
P183S |
probably damaging |
Het |
Bfsp2 |
A |
T |
9: 103,357,299 (GRCm39) |
S43T |
probably benign |
Het |
Camk4 |
G |
A |
18: 33,262,845 (GRCm39) |
D136N |
probably damaging |
Het |
Ceacam3 |
G |
T |
7: 16,885,808 (GRCm39) |
|
probably benign |
Het |
Chrm3 |
T |
C |
13: 9,927,969 (GRCm39) |
I356V |
probably benign |
Het |
Clec9a |
T |
A |
6: 129,396,532 (GRCm39) |
I133N |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,634,823 (GRCm39) |
L157P |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,229,614 (GRCm39) |
|
probably null |
Het |
Def8 |
T |
C |
8: 124,186,656 (GRCm39) |
V436A |
probably damaging |
Het |
Dipk1c |
T |
A |
18: 84,738,488 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
C |
1: 80,518,193 (GRCm39) |
K1293R |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,598,126 (GRCm39) |
D1772E |
probably benign |
Het |
Ephx4 |
G |
T |
5: 107,561,387 (GRCm39) |
G72C |
probably damaging |
Het |
Fam136a |
T |
G |
6: 86,343,707 (GRCm39) |
V68G |
possibly damaging |
Het |
Fcgrt |
T |
C |
7: 44,751,363 (GRCm39) |
E195G |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,620,319 (GRCm39) |
Q165L |
possibly damaging |
Het |
Glb1l |
T |
C |
1: 75,185,479 (GRCm39) |
Y77C |
probably damaging |
Het |
Gpr26 |
T |
C |
7: 131,569,249 (GRCm39) |
V198A |
possibly damaging |
Het |
Gpr26 |
C |
A |
7: 131,576,001 (GRCm39) |
|
probably null |
Het |
Gsdma3 |
A |
C |
11: 98,526,164 (GRCm39) |
E296A |
probably benign |
Het |
Hyou1 |
G |
T |
9: 44,295,989 (GRCm39) |
G385W |
probably damaging |
Het |
Il17rb |
T |
C |
14: 29,718,637 (GRCm39) |
S482G |
probably benign |
Het |
Itgb4 |
A |
T |
11: 115,898,428 (GRCm39) |
R1715W |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,717 (GRCm39) |
S411G |
probably benign |
Het |
Kdm3a |
C |
T |
6: 71,588,663 (GRCm39) |
D449N |
probably benign |
Het |
Kifbp |
T |
C |
10: 62,401,832 (GRCm39) |
I23M |
probably benign |
Het |
Klhl26 |
T |
C |
8: 70,905,130 (GRCm39) |
D226G |
probably damaging |
Het |
Klra1 |
T |
A |
6: 130,354,737 (GRCm39) |
I94F |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,589,894 (GRCm39) |
D808G |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,567,603 (GRCm39) |
M272I |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,690,496 (GRCm39) |
D251G |
probably benign |
Het |
Mob3b |
T |
C |
4: 35,083,991 (GRCm39) |
D66G |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,705,988 (GRCm39) |
Q1863R |
probably damaging |
Het |
Naa12 |
T |
C |
18: 80,255,029 (GRCm39) |
S108P |
probably damaging |
Het |
Or10al3 |
G |
A |
17: 38,012,190 (GRCm39) |
V210I |
probably benign |
Het |
Or4c103 |
A |
T |
2: 88,513,999 (GRCm39) |
F26I |
probably benign |
Het |
Pdgfd |
T |
A |
9: 6,293,928 (GRCm39) |
Y167* |
probably null |
Het |
Pfas |
A |
G |
11: 68,891,931 (GRCm39) |
|
probably null |
Het |
Plin1 |
T |
A |
7: 79,372,394 (GRCm39) |
T393S |
probably damaging |
Het |
Prdm15 |
A |
T |
16: 97,636,986 (GRCm39) |
N110K |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,099,674 (GRCm39) |
V1726D |
probably benign |
Het |
Sestd1 |
T |
A |
2: 77,022,137 (GRCm39) |
D518V |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,423,310 (GRCm39) |
P344S |
probably damaging |
Het |
Slc22a1 |
A |
T |
17: 12,875,828 (GRCm39) |
I462N |
probably damaging |
Het |
Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
Tbc1d14 |
G |
T |
5: 36,728,643 (GRCm39) |
T241K |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,779,141 (GRCm39) |
L1176P |
possibly damaging |
Het |
Ube2g1 |
G |
C |
11: 72,563,791 (GRCm39) |
G52A |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,259,934 (GRCm39) |
*957R |
probably null |
Het |
Vmn2r125 |
A |
T |
4: 156,703,153 (GRCm39) |
E177V |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,723 (GRCm39) |
F631S |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,529,626 (GRCm39) |
C42* |
probably null |
Het |
Zc3h14 |
T |
G |
12: 98,730,082 (GRCm39) |
V13G |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,141 (GRCm39) |
V551D |
probably benign |
Het |
Zfp618 |
C |
T |
4: 63,004,809 (GRCm39) |
R70W |
probably 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 |
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 |
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Predicted Primers |
PCR Primer
(F):5'- CATTTGGCATGAGAGCATCAAGCAG -3'
(R):5'- GGCAGCTTAGACACCAAACATGGC -3'
Sequencing Primer
(F):5'- GCTGCTTAGCAGACAGCATTC -3'
(R):5'- GTGCTCACCACTGATCCAG -3'
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Posted On |
2013-05-23 |