Incidental Mutation 'R7827:Abcb1b'
ID |
602235 |
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 |
045881-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R7827 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8887747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 878
(S878P)
|
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: S878P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: S878P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,651,112 (GRCm39) |
N78S |
probably damaging |
Het |
Abca12 |
G |
A |
1: 71,453,837 (GRCm39) |
|
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,223,814 (GRCm39) |
R1305G |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,837,400 (GRCm39) |
C650S |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,982,708 (GRCm39) |
K1331* |
probably null |
Het |
Alpk1 |
A |
T |
3: 127,473,700 (GRCm39) |
S768T |
probably benign |
Het |
Ap4b1 |
T |
G |
3: 103,722,398 (GRCm39) |
L124R |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,292,038 (GRCm39) |
F3Y |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,547,114 (GRCm39) |
V155A |
probably benign |
Het |
Bptf |
A |
G |
11: 106,938,013 (GRCm39) |
S87P |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,220,421 (GRCm39) |
M697K |
probably benign |
Het |
Ccdc42 |
G |
A |
11: 68,485,022 (GRCm39) |
V32M |
probably benign |
Het |
Cert1 |
A |
G |
13: 96,753,563 (GRCm39) |
H391R |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,924,294 (GRCm39) |
|
probably null |
Het |
Dcpp2 |
T |
G |
17: 24,119,566 (GRCm39) |
Y127D |
probably damaging |
Het |
Def8 |
C |
A |
8: 124,174,060 (GRCm39) |
T7K |
probably benign |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
En2 |
G |
A |
5: 28,371,594 (GRCm39) |
G24S |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,688 (GRCm39) |
|
probably benign |
Het |
Fam117b |
A |
T |
1: 59,952,837 (GRCm39) |
H172L |
possibly damaging |
Het |
Fam169b |
A |
G |
7: 67,954,338 (GRCm39) |
I67M |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,789,861 (GRCm39) |
E416D |
probably damaging |
Het |
Gja8 |
T |
A |
3: 96,827,635 (GRCm39) |
N9I |
possibly damaging |
Het |
Gsg1l2 |
T |
A |
11: 67,676,097 (GRCm39) |
C154S |
probably benign |
Het |
Hdhd3 |
C |
A |
4: 62,418,232 (GRCm39) |
|
probably benign |
Het |
Hunk |
C |
T |
16: 90,278,214 (GRCm39) |
P341L |
possibly damaging |
Het |
Ighv8-5 |
T |
C |
12: 115,031,258 (GRCm39) |
T94A |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,331,319 (GRCm39) |
N75D |
probably benign |
Het |
Krt39 |
T |
C |
11: 99,409,901 (GRCm39) |
E212G |
probably damaging |
Het |
Ldlrad4 |
A |
G |
18: 68,387,495 (GRCm39) |
H269R |
probably damaging |
Het |
Lrrc2 |
T |
A |
9: 110,790,049 (GRCm39) |
V102E |
possibly damaging |
Het |
Ltbp2 |
T |
A |
12: 84,836,655 (GRCm39) |
I1292L |
probably benign |
Het |
Mad2l1bp |
A |
T |
17: 46,458,993 (GRCm39) |
V179E |
possibly damaging |
Het |
Map3k1 |
A |
G |
13: 111,892,663 (GRCm39) |
V864A |
probably benign |
Het |
Mapk8ip2 |
T |
G |
15: 89,342,322 (GRCm39) |
V511G |
probably damaging |
Het |
Mknk2 |
A |
C |
10: 80,503,021 (GRCm39) |
S434A |
probably benign |
Het |
Mllt11 |
A |
G |
3: 95,127,548 (GRCm39) |
F74S |
probably damaging |
Het |
Muc16 |
G |
T |
9: 18,506,519 (GRCm39) |
T6412K |
possibly damaging |
Het |
Nek5 |
C |
A |
8: 22,573,403 (GRCm39) |
A518S |
possibly damaging |
Het |
Npy1r |
T |
C |
8: 67,156,864 (GRCm39) |
F95L |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,773,569 (GRCm39) |
T1586I |
probably benign |
Het |
Olig3 |
A |
T |
10: 19,232,518 (GRCm39) |
M48L |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,932 (GRCm39) |
M267T |
probably benign |
Het |
Or14j7 |
T |
A |
17: 38,234,568 (GRCm39) |
L37* |
probably null |
Het |
Or5b120 |
T |
G |
19: 13,480,587 (GRCm39) |
N293K |
probably damaging |
Het |
Or6aa1 |
T |
A |
7: 86,043,765 (GRCm39) |
K314* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,611,904 (GRCm39) |
D288G |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,790,886 (GRCm39) |
I687V |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,209,659 (GRCm39) |
T2348M |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,018,835 (GRCm39) |
T291A |
probably benign |
Het |
Pmpca |
G |
A |
2: 26,280,144 (GRCm39) |
V89I |
possibly damaging |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Pou6f2 |
C |
A |
13: 18,553,092 (GRCm39) |
A81S |
|
Het |
Ppl |
T |
A |
16: 4,905,828 (GRCm39) |
E1489V |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,733,264 (GRCm39) |
F792S |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,927,582 (GRCm39) |
Y58H |
probably damaging |
Het |
Rex2 |
C |
A |
4: 147,142,547 (GRCm39) |
T345N |
possibly damaging |
Het |
Rnf144a |
T |
C |
12: 26,389,439 (GRCm39) |
M1V |
probably null |
Het |
Siglec15 |
A |
T |
18: 78,100,445 (GRCm39) |
C13* |
probably null |
Het |
Skint10 |
G |
A |
4: 112,632,003 (GRCm39) |
Q6* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,304,057 (GRCm39) |
W291R |
probably damaging |
Het |
Snx27 |
A |
G |
3: 94,426,366 (GRCm39) |
F378L |
probably benign |
Het |
Strip2 |
A |
T |
6: 29,923,928 (GRCm39) |
T81S |
probably benign |
Het |
Tas2r143 |
A |
G |
6: 42,377,656 (GRCm39) |
N162S |
probably damaging |
Het |
Tatdn1 |
T |
C |
15: 58,776,607 (GRCm39) |
D256G |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,089,291 (GRCm39) |
S630P |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,611 (GRCm39) |
D199G |
probably benign |
Het |
Tmed8 |
C |
A |
12: 87,246,991 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ttll3 |
TAA |
TAAAGCAA |
6: 113,376,123 (GRCm39) |
|
probably null |
Het |
U2af2 |
T |
C |
7: 5,077,661 (GRCm39) |
|
probably null |
Het |
Ywhag |
C |
T |
5: 135,940,394 (GRCm39) |
E67K |
probably damaging |
Het |
Zfp105 |
A |
G |
9: 122,759,808 (GRCm39) |
H493R |
probably damaging |
Het |
Zfp426 |
A |
T |
9: 20,381,446 (GRCm39) |
C514S |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,269,113 (GRCm39) |
D101V |
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 |
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 |
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 |
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'- GGATGAAAGTAAATAGCCCCAATTC -3'
(R):5'- ATTGTTTGAAGGCCCTCCCC -3'
Sequencing Primer
(F):5'- GTAAATAGCCCCAATTCATAAACATG -3'
(R):5'- CCCCAGAGCAGACAGGGAATTG -3'
|
Posted On |
2019-12-03 |