Incidental Mutation 'R4964:Abcb1b'
ID |
383780 |
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 |
042561-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R4964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8911602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 133
(I133N)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
|
AlphaFold |
P06795 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009058
AA Change: I1152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: I1152N
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 damaging
Transcript: ENSMUST00000198650
AA Change: I133N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
98% (100/102) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,610,757 (GRCm39) |
|
probably benign |
Het |
9030619P08Rik |
T |
A |
15: 75,303,267 (GRCm39) |
|
noncoding transcript |
Het |
A430033K04Rik |
G |
T |
5: 138,645,119 (GRCm39) |
E335* |
probably null |
Het |
Acox3 |
A |
G |
5: 35,747,080 (GRCm39) |
N166D |
probably damaging |
Het |
Adam5 |
T |
C |
8: 25,276,248 (GRCm39) |
Y473C |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,236,917 (GRCm39) |
K242E |
possibly damaging |
Het |
Apc2 |
A |
C |
10: 80,149,841 (GRCm39) |
I1603L |
probably benign |
Het |
Arhgef25 |
T |
A |
10: 127,021,472 (GRCm39) |
I249F |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,860,553 (GRCm39) |
H255R |
probably benign |
Het |
Cables1 |
A |
T |
18: 12,074,334 (GRCm39) |
R486W |
possibly damaging |
Het |
Caskin1 |
A |
T |
17: 24,726,135 (GRCm39) |
D1414V |
probably damaging |
Het |
Ccdc175 |
A |
G |
12: 72,227,619 (GRCm39) |
S55P |
probably damaging |
Het |
Ccdc57 |
A |
T |
11: 120,751,978 (GRCm39) |
S868T |
probably benign |
Het |
Ccny |
A |
T |
18: 9,449,516 (GRCm39) |
|
probably null |
Het |
Cdc34b |
A |
T |
11: 94,633,087 (GRCm39) |
I96F |
probably damaging |
Het |
Ctnnd1 |
A |
G |
2: 84,452,417 (GRCm39) |
F69L |
possibly damaging |
Het |
Cul9 |
C |
T |
17: 46,849,451 (GRCm39) |
D565N |
probably damaging |
Het |
Cxcl16 |
A |
G |
11: 70,346,519 (GRCm39) |
V208A |
probably benign |
Het |
Cyb5rl |
A |
G |
4: 106,926,329 (GRCm39) |
|
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,493,823 (GRCm39) |
K54E |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,432,372 (GRCm39) |
V885I |
probably damaging |
Het |
Dlg1 |
C |
T |
16: 31,573,626 (GRCm39) |
T9I |
probably benign |
Het |
Dnase1 |
T |
C |
16: 3,855,771 (GRCm39) |
|
probably benign |
Het |
Drd4 |
T |
C |
7: 140,873,690 (GRCm39) |
M114T |
probably damaging |
Het |
Egfr |
A |
T |
11: 16,858,949 (GRCm39) |
D976V |
probably damaging |
Het |
Eif2s1 |
T |
A |
12: 78,926,785 (GRCm39) |
N178K |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,395,155 (GRCm39) |
H591R |
probably benign |
Het |
Galntl6 |
T |
C |
8: 59,152,945 (GRCm39) |
|
probably benign |
Het |
Glipr1l2 |
T |
A |
10: 111,942,904 (GRCm39) |
I253K |
possibly damaging |
Het |
Gnat1 |
A |
T |
9: 107,554,433 (GRCm39) |
M115K |
probably benign |
Het |
Gtsf2 |
T |
C |
15: 103,352,755 (GRCm39) |
E88G |
possibly damaging |
Het |
Hormad1 |
T |
A |
3: 95,492,531 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,217,305 (GRCm39) |
I1398F |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,301,974 (GRCm39) |
V483A |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,971,385 (GRCm39) |
F278L |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,939,911 (GRCm39) |
L593P |
probably damaging |
Het |
Krt7 |
C |
T |
15: 101,311,853 (GRCm39) |
R104C |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,682,427 (GRCm39) |
H16L |
probably benign |
Het |
Mef2d |
T |
A |
3: 88,075,404 (GRCm39) |
I422N |
probably damaging |
Het |
Mipep |
G |
T |
14: 61,022,231 (GRCm39) |
R32L |
probably damaging |
Het |
Mon1a |
A |
G |
9: 107,779,850 (GRCm39) |
E473G |
probably damaging |
Het |
Mterf2 |
T |
A |
10: 84,955,979 (GRCm39) |
Q215L |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,391,525 (GRCm39) |
Y324F |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,023,818 (GRCm39) |
E1512G |
probably damaging |
Het |
Myo1g |
A |
T |
11: 6,465,976 (GRCm39) |
F370I |
probably damaging |
Het |
Myo5c |
T |
A |
9: 75,204,791 (GRCm39) |
M1548K |
possibly damaging |
Het |
Myof |
T |
A |
19: 37,924,300 (GRCm39) |
I1306F |
probably damaging |
Het |
Nle1 |
A |
G |
11: 82,799,018 (GRCm39) |
F21S |
probably damaging |
Het |
Noc2l |
C |
G |
4: 156,330,368 (GRCm39) |
D513E |
probably damaging |
Het |
Or1e17 |
A |
T |
11: 73,832,028 (GRCm39) |
I319F |
probably benign |
Het |
Or2z2 |
A |
G |
11: 58,346,733 (GRCm39) |
V14A |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,471,670 (GRCm39) |
*841R |
probably null |
Het |
Patz1 |
A |
G |
11: 3,257,720 (GRCm39) |
D573G |
probably damaging |
Het |
Pcdhga3 |
A |
G |
18: 37,809,154 (GRCm39) |
T536A |
probably benign |
Het |
Pde6h |
C |
T |
6: 136,938,201 (GRCm39) |
T58I |
possibly damaging |
Het |
Pip5k1a |
T |
C |
3: 94,978,094 (GRCm39) |
I275V |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,805,042 (GRCm39) |
|
probably null |
Het |
Polr1e |
G |
A |
4: 45,029,429 (GRCm39) |
A297T |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Rbm34 |
T |
C |
8: 127,678,087 (GRCm39) |
D269G |
possibly damaging |
Het |
Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
Rnf32 |
G |
A |
5: 29,403,576 (GRCm39) |
R7H |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,729,497 (GRCm39) |
E2375G |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,848,878 (GRCm39) |
T361A |
probably benign |
Het |
Serpina3m |
T |
C |
12: 104,355,360 (GRCm39) |
I9T |
probably benign |
Het |
Serpinb9 |
T |
A |
13: 33,192,847 (GRCm39) |
W135R |
probably damaging |
Het |
Sf3b1 |
T |
C |
1: 55,038,871 (GRCm39) |
N804S |
probably benign |
Het |
Shroom1 |
A |
G |
11: 53,355,999 (GRCm39) |
T350A |
probably benign |
Het |
Slc24a5 |
G |
A |
2: 124,910,188 (GRCm39) |
V30I |
probably benign |
Het |
Slc38a8 |
A |
T |
8: 120,209,423 (GRCm39) |
|
probably null |
Het |
Smarcd1 |
A |
G |
15: 99,605,862 (GRCm39) |
S378G |
possibly damaging |
Het |
Stx1b |
T |
C |
7: 127,407,093 (GRCm39) |
I55V |
probably damaging |
Het |
Sult2a8 |
A |
G |
7: 14,159,457 (GRCm39) |
V54A |
probably damaging |
Het |
Tacc2 |
T |
C |
7: 130,330,507 (GRCm39) |
S264P |
probably damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,695,610 (GRCm39) |
Y943N |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,038 (GRCm39) |
I114T |
probably benign |
Het |
Tmco6 |
T |
C |
18: 36,868,555 (GRCm39) |
|
probably null |
Het |
Treh |
T |
C |
9: 44,593,945 (GRCm39) |
L144P |
probably damaging |
Het |
Trmt2a |
T |
A |
16: 18,067,418 (GRCm39) |
C30* |
probably null |
Het |
Ttbk2 |
A |
T |
2: 120,603,758 (GRCm39) |
F258L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,785,380 (GRCm39) |
D665G |
probably damaging |
Het |
Unc93b1 |
T |
C |
19: 3,992,023 (GRCm39) |
|
probably null |
Het |
Uroc1 |
T |
C |
6: 90,322,376 (GRCm39) |
L300P |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,379,491 (GRCm39) |
I426T |
possibly damaging |
Het |
Xbp1 |
A |
G |
11: 5,471,125 (GRCm39) |
E44G |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,816,942 (GRCm39) |
V119D |
probably damaging |
Het |
Zfp457 |
T |
A |
13: 67,441,342 (GRCm39) |
H315L |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,904,295 (GRCm39) |
V1408D |
possibly damaging |
Het |
Zfp52 |
T |
G |
17: 21,780,665 (GRCm39) |
L171R |
probably benign |
Het |
Zfp712 |
C |
T |
13: 67,188,676 (GRCm39) |
C617Y |
probably damaging |
Het |
Zfp770 |
T |
C |
2: 114,027,868 (GRCm39) |
N67S |
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 |
8,862,671 (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'- TGTGCTGGTCCTGAAGTCAATC -3'
(R):5'- GATGTCACACTGCTTCTGCC -3'
Sequencing Primer
(F):5'- CTGGTCCTGAAGTCAATCTATGAACC -3'
(R):5'- GCTTCTGCCTCACCAGGAC -3'
|
Posted On |
2016-04-27 |