Incidental Mutation 'R7573:Abcb1b'
ID |
586141 |
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 |
045659-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R7573 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8878866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 750
(C750Y)
|
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: C750Y
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: C750Y
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: 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 |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (80/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,366,917 (GRCm39) |
I49F |
|
Het |
1810055G02Rik |
T |
A |
19: 3,765,728 (GRCm39) |
M1K |
probably null |
Het |
Abi2 |
T |
A |
1: 60,509,867 (GRCm39) |
V412D |
probably benign |
Het |
Alk |
C |
T |
17: 72,207,787 (GRCm39) |
V983M |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,953 (GRCm39) |
W266R |
possibly damaging |
Het |
Arhgef18 |
A |
G |
8: 3,434,918 (GRCm39) |
R188G |
probably damaging |
Het |
Atp2c2 |
A |
T |
8: 120,478,008 (GRCm39) |
D695V |
probably damaging |
Het |
B3gnt4 |
A |
T |
5: 123,648,718 (GRCm39) |
I28L |
probably benign |
Het |
C2cd3 |
A |
G |
7: 100,068,914 (GRCm39) |
D536G |
|
Het |
Cacna1c |
A |
G |
6: 118,581,406 (GRCm39) |
S1733P |
|
Het |
Cacna1e |
T |
C |
1: 154,601,911 (GRCm39) |
|
probably benign |
Het |
Capns1 |
A |
G |
7: 29,891,960 (GRCm39) |
F101L |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,922,015 (GRCm39) |
T1030A |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,159,329 (GRCm39) |
T2151A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,953,220 (GRCm39) |
L1558Q |
probably damaging |
Het |
Cfap157 |
T |
C |
2: 32,667,520 (GRCm39) |
H521R |
probably benign |
Het |
Crygs |
T |
A |
16: 22,624,069 (GRCm39) |
*179C |
probably null |
Het |
Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,830,836 (GRCm39) |
T1686A |
probably benign |
Het |
Cutc |
T |
C |
19: 43,748,382 (GRCm39) |
V95A |
probably benign |
Het |
Cxcl3 |
A |
G |
5: 90,934,105 (GRCm39) |
T26A |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,016,041 (GRCm39) |
V400A |
probably benign |
Het |
Dysf |
A |
T |
6: 84,107,104 (GRCm39) |
N1139I |
possibly damaging |
Het |
Fam136a |
G |
A |
6: 86,343,667 (GRCm39) |
E55K |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,600,502 (GRCm39) |
D179G |
probably damaging |
Het |
Fam178b |
T |
C |
1: 36,671,533 (GRCm39) |
D196G |
probably damaging |
Het |
Fut9 |
A |
T |
4: 25,620,691 (GRCm39) |
M41K |
probably benign |
Het |
Gm9195 |
T |
C |
14: 72,694,122 (GRCm39) |
Q1531R |
probably null |
Het |
Gpr6 |
A |
T |
10: 40,946,868 (GRCm39) |
V238D |
probably damaging |
Het |
Hoxa2 |
A |
T |
6: 52,140,283 (GRCm39) |
S234R |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,103,337 (GRCm39) |
T143A |
probably benign |
Het |
Kcnq2 |
A |
G |
2: 180,723,382 (GRCm39) |
S693P |
probably benign |
Het |
Kif13b |
A |
G |
14: 65,041,107 (GRCm39) |
I1732V |
probably benign |
Het |
Klhl14 |
A |
G |
18: 21,785,211 (GRCm39) |
V72A |
probably benign |
Het |
Krt1c |
T |
A |
15: 101,722,954 (GRCm39) |
D348V |
probably benign |
Het |
Map4k2 |
A |
T |
19: 6,394,094 (GRCm39) |
E300D |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,138,679 (GRCm39) |
|
probably null |
Het |
Mpo |
A |
G |
11: 87,688,403 (GRCm39) |
D354G |
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,847,778 (GRCm39) |
T174A |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,172,450 (GRCm39) |
C1183Y |
probably damaging |
Het |
Nfkb2 |
C |
A |
19: 46,297,082 (GRCm39) |
Q336K |
possibly damaging |
Het |
Nlrp2 |
A |
G |
7: 5,320,468 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
T |
C |
7: 19,753,125 (GRCm39) |
L10P |
probably damaging |
Het |
Nrip2 |
A |
G |
6: 128,377,232 (GRCm39) |
S53G |
probably benign |
Het |
Or13a22 |
G |
A |
7: 140,072,912 (GRCm39) |
M120I |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,277 (GRCm39) |
I151T |
probably benign |
Het |
Or52a5b |
A |
G |
7: 103,416,677 (GRCm39) |
M309T |
probably benign |
Het |
Or52z13 |
C |
T |
7: 103,246,735 (GRCm39) |
L71F |
probably benign |
Het |
Or8b54 |
A |
T |
9: 38,686,791 (GRCm39) |
K80I |
probably damaging |
Het |
Or8g18 |
C |
T |
9: 39,148,977 (GRCm39) |
V248I |
probably benign |
Het |
Pak5 |
A |
G |
2: 135,958,225 (GRCm39) |
S288P |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,487,809 (GRCm39) |
F234L |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,358,658 (GRCm39) |
N616D |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,506,852 (GRCm39) |
R9C |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,213,272 (GRCm39) |
C154R |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 185,014,579 (GRCm39) |
W1243R |
probably benign |
Het |
Rad17 |
C |
T |
13: 100,765,974 (GRCm39) |
A385T |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,349,310 (GRCm39) |
C3804R |
|
Het |
Ros1 |
T |
A |
10: 52,046,072 (GRCm39) |
T153S |
probably benign |
Het |
Sema4g |
T |
C |
19: 44,986,010 (GRCm39) |
S284P |
probably damaging |
Het |
Septin9 |
C |
T |
11: 117,090,571 (GRCm39) |
|
probably benign |
Het |
Slc2a9 |
T |
C |
5: 38,574,569 (GRCm39) |
S236G |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,398,256 (GRCm39) |
F674L |
probably benign |
Het |
Slfn5 |
A |
T |
11: 82,849,585 (GRCm39) |
K361N |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,929,052 (GRCm39) |
L88S |
unknown |
Het |
Smarca4 |
T |
A |
9: 21,550,371 (GRCm39) |
|
probably null |
Het |
Smg7 |
A |
T |
1: 152,735,240 (GRCm39) |
N198K |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,141,234 (GRCm39) |
Q1166* |
probably null |
Het |
Stap1 |
A |
G |
5: 86,238,854 (GRCm39) |
N212S |
possibly damaging |
Het |
Tbx2 |
C |
G |
11: 85,724,138 (GRCm39) |
A69G |
possibly damaging |
Het |
Tmc1 |
C |
A |
19: 20,884,372 (GRCm39) |
D23Y |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,135,455 (GRCm39) |
D940E |
probably benign |
Het |
Trim27 |
T |
A |
13: 21,364,770 (GRCm39) |
C36S |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,560,696 (GRCm39) |
G808D |
probably damaging |
Het |
Usp17ld |
G |
T |
7: 102,900,094 (GRCm39) |
Y279* |
probably null |
Het |
Usp40 |
G |
A |
1: 87,913,794 (GRCm39) |
A433V |
probably benign |
Het |
Vmn1r49 |
G |
A |
6: 90,049,843 (GRCm39) |
A53V |
probably benign |
Het |
Vmn1r84 |
T |
C |
7: 12,095,787 (GRCm39) |
N302S |
probably benign |
Het |
Wfdc2 |
A |
T |
2: 164,407,741 (GRCm39) |
I137L |
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 |
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 |
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'- CAGAATGCAGATGCTTTGGAGG -3'
(R):5'- ATCATCACGTCAAAGGCTGTAC -3'
Sequencing Primer
(F):5'- GGAGGTCTGTCTTGTCCCC -3'
(R):5'- TCACGTCAAAGGCTGTACTGGAG -3'
|
Posted On |
2019-10-24 |