Incidental Mutation 'R9694:Abcb1b'
| ID |
735938 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R9694 (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 A
at 8899573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 948
(Y948N)
|
| 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: Y948N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: Y948N
| 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: ENSMUST00000198650
|
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adamts4 |
T |
C |
1: 171,081,530 (GRCm39) |
S395P |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,774 (GRCm39) |
Y567H |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,139 (GRCm39) |
N212D |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,597,708 (GRCm39) |
F775S |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,273,094 (GRCm39) |
Q1406L |
probably benign |
Het |
| C030006K11Rik |
A |
T |
15: 76,607,928 (GRCm39) |
V30D |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,701,993 (GRCm39) |
V262E |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,632,803 (GRCm39) |
G183R |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,341 (GRCm39) |
I2257T |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,754,809 (GRCm39) |
I266T |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,685 (GRCm39) |
Y319* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,286,340 (GRCm39) |
I125F |
probably benign |
Het |
| Dcdc2c |
A |
T |
12: 28,585,553 (GRCm39) |
I80N |
|
Het |
| Dmtn |
T |
C |
14: 70,852,732 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
C |
11: 34,218,054 (GRCm39) |
N1172S |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,818,791 (GRCm39) |
S1564P |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Eif4enif1 |
C |
T |
11: 3,170,384 (GRCm39) |
L146F |
probably damaging |
Het |
| Ergic1 |
T |
G |
17: 26,843,585 (GRCm39) |
D59E |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,838,050 (GRCm39) |
D365V |
possibly damaging |
Het |
| Fbxl16 |
C |
T |
17: 26,036,813 (GRCm39) |
Q265* |
probably null |
Het |
| Fbxw26 |
T |
C |
9: 109,575,135 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,929,545 (GRCm39) |
Y3983F |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,460 (GRCm39) |
D78E |
probably benign |
Het |
| Gas2l2 |
A |
C |
11: 83,314,170 (GRCm39) |
S381A |
possibly damaging |
Het |
| Gm57858 |
A |
G |
3: 36,073,092 (GRCm39) |
S397P |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Gxylt2 |
T |
A |
6: 100,710,174 (GRCm39) |
V105E |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,107,813 (GRCm39) |
V181A |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,691 (GRCm39) |
T274A |
probably benign |
Het |
| Ik |
T |
A |
18: 36,877,840 (GRCm39) |
D5E |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Itpr3 |
C |
T |
17: 27,334,927 (GRCm39) |
T2147I |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,950,173 (GRCm39) |
V1418E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
T |
18: 47,033,609 (GRCm39) |
D940V |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,268 (GRCm39) |
L137Q |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,638 (GRCm39) |
L73F |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,752,669 (GRCm39) |
T3A |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,681 (GRCm39) |
E11G |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,021 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,718 (GRCm39) |
I186T |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,952,565 (GRCm39) |
H533R |
probably benign |
Het |
| Pax7 |
G |
A |
4: 139,556,819 (GRCm39) |
T147M |
probably benign |
Het |
| Pdik1l |
A |
T |
4: 134,006,711 (GRCm39) |
S143T |
unknown |
Het |
| Prkg1 |
T |
G |
19: 30,764,371 (GRCm39) |
T255P |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,694 (GRCm39) |
I64F |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rab8b |
T |
C |
9: 66,826,824 (GRCm39) |
D31G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,473,378 (GRCm39) |
S768P |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,622,152 (GRCm39) |
D607E |
probably benign |
Het |
| Reep6 |
T |
A |
10: 80,169,393 (GRCm39) |
V131E |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,832,099 (GRCm39) |
I23F |
probably damaging |
Het |
| Rubcn |
A |
T |
16: 32,663,481 (GRCm39) |
V385D |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,552,124 (GRCm39) |
G357D |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,881 (GRCm39) |
L547H |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,901 (GRCm39) |
A808T |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,810,151 (GRCm39) |
T785A |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,211,535 (GRCm39) |
S199A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,654 (GRCm39) |
S319R |
probably damaging |
Het |
| Supt20 |
C |
T |
3: 54,623,015 (GRCm39) |
S496L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,196 (GRCm39) |
F518L |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,156 (GRCm39) |
V277D |
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Vmn1r192 |
G |
A |
13: 22,372,119 (GRCm39) |
P34S |
probably benign |
Het |
| Wipf3 |
T |
C |
6: 54,466,004 (GRCm39) |
S421P |
possibly damaging |
Het |
| Zfp296 |
A |
G |
7: 19,314,227 (GRCm39) |
K361E |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,915 (GRCm39) |
N247K |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,965,710 (GRCm39) |
T732A |
possibly 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 |
|
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 |
|
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'- GAACTGGAGTGCACGGTATCTG -3'
(R):5'- CATAAGTTTCCTTTGGCGGTTC -3'
Sequencing Primer
(F):5'- AGTGCACGGTATCTGTCACG -3'
(R):5'- CCTTTGGCGGTTCCTAATTAAATAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation