Incidental Mutation 'R9300:Abcb1b'
ID |
704841 |
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 # |
R9300 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8875614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 596
(V596I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000199955]
|
AlphaFold |
P06795 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009058
AA Change: V596I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000009058 Gene: ENSMUSG00000028970 AA Change: V596I
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: 99.7%
- 20x: 99.1%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad8 |
A |
T |
9: 26,888,928 (GRCm39) |
H371Q |
probably damaging |
Het |
Actn3 |
G |
T |
19: 4,921,656 (GRCm39) |
R175S |
probably benign |
Het |
Adamts9 |
G |
T |
6: 92,864,371 (GRCm39) |
D780E |
probably benign |
Het |
AK157302 |
C |
A |
13: 21,679,537 (GRCm39) |
T21K |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,706,872 (GRCm39) |
H329L |
unknown |
Het |
Ankrd36 |
A |
G |
11: 5,519,979 (GRCm39) |
H18R |
possibly damaging |
Het |
Anks1b |
T |
A |
10: 90,412,966 (GRCm39) |
V38D |
possibly damaging |
Het |
Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
Arid1b |
C |
A |
17: 5,293,274 (GRCm39) |
P731T |
probably damaging |
Het |
Atp1a4 |
A |
G |
1: 172,067,398 (GRCm39) |
F578S |
probably damaging |
Het |
Atp6v0a2 |
A |
T |
5: 124,789,312 (GRCm39) |
I360F |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,448,184 (GRCm39) |
I600F |
probably damaging |
Het |
C1qtnf7 |
T |
G |
5: 43,766,441 (GRCm39) |
C20W |
possibly damaging |
Het |
Cadm1 |
A |
T |
9: 47,708,821 (GRCm39) |
K184* |
probably null |
Het |
Ccdc138 |
A |
T |
10: 58,343,448 (GRCm39) |
H101L |
probably benign |
Het |
Cep120 |
T |
A |
18: 53,852,369 (GRCm39) |
N503I |
probably damaging |
Het |
Chil4 |
T |
C |
3: 106,109,874 (GRCm39) |
T380A |
probably benign |
Het |
Clip2 |
A |
G |
5: 134,526,942 (GRCm39) |
|
probably null |
Het |
Cyp3a11 |
G |
A |
5: 145,799,164 (GRCm39) |
P341L |
possibly damaging |
Het |
Cyp3a41a |
G |
C |
5: 145,656,906 (GRCm39) |
|
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,725,042 (GRCm39) |
I509M |
possibly damaging |
Het |
Dcaf13 |
T |
C |
15: 39,010,102 (GRCm39) |
S429P |
probably damaging |
Het |
Eln |
A |
G |
5: 134,758,220 (GRCm39) |
V151A |
unknown |
Het |
Endou |
T |
G |
15: 97,610,954 (GRCm39) |
M377L |
probably benign |
Het |
Etfa |
A |
G |
9: 55,396,152 (GRCm39) |
I138T |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,768,109 (GRCm39) |
S982T |
probably benign |
Het |
Gm9602 |
A |
T |
14: 15,933,435 (GRCm39) |
R47* |
probably null |
Het |
Hectd4 |
G |
A |
5: 121,486,952 (GRCm39) |
V3316I |
probably benign |
Het |
Hif1a |
T |
C |
12: 73,987,302 (GRCm39) |
L477S |
probably benign |
Het |
Icam5 |
G |
C |
9: 20,946,846 (GRCm39) |
G458A |
probably benign |
Het |
Itm2b |
A |
T |
14: 73,603,896 (GRCm39) |
D106E |
probably benign |
Het |
Kdm4d |
G |
A |
9: 14,375,336 (GRCm39) |
T174M |
probably damaging |
Het |
Kif16b |
G |
T |
2: 142,541,207 (GRCm39) |
D1364E |
probably benign |
Het |
Lbhd1 |
G |
A |
19: 8,861,550 (GRCm39) |
V61M |
probably damaging |
Het |
Lclat1 |
T |
A |
17: 73,546,919 (GRCm39) |
S279T |
probably benign |
Het |
Lhx4 |
G |
A |
1: 155,580,956 (GRCm39) |
L190F |
probably damaging |
Het |
Lima1 |
C |
T |
15: 99,704,320 (GRCm39) |
S283N |
probably benign |
Het |
Magi1 |
C |
A |
6: 93,724,209 (GRCm39) |
D496Y |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,133,446 (GRCm39) |
S1421P |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,202,257 (GRCm39) |
H163Y |
probably damaging |
Het |
Mier3 |
T |
G |
13: 111,822,890 (GRCm39) |
|
probably null |
Het |
Mllt3 |
G |
A |
4: 87,692,284 (GRCm39) |
Q560* |
probably null |
Het |
Mmp25 |
T |
A |
17: 23,851,728 (GRCm39) |
D327V |
probably benign |
Het |
Nckap5 |
G |
A |
1: 125,909,423 (GRCm39) |
Q1603* |
probably null |
Het |
Nell1 |
G |
A |
7: 49,712,368 (GRCm39) |
V63I |
probably benign |
Het |
Or10al3 |
C |
T |
17: 38,011,815 (GRCm39) |
P85S |
probably damaging |
Het |
Or2ag2b |
A |
T |
7: 106,418,111 (GRCm39) |
I274F |
probably benign |
Het |
Or8a1 |
A |
C |
9: 37,641,578 (GRCm39) |
S234A |
probably benign |
Het |
Pde12 |
C |
T |
14: 26,386,931 (GRCm39) |
E526K |
probably damaging |
Het |
Pfn4 |
T |
C |
12: 4,825,442 (GRCm39) |
V93A |
possibly damaging |
Het |
Poglut2 |
A |
G |
1: 44,156,362 (GRCm39) |
I75T |
possibly damaging |
Het |
Ppp2r3d |
A |
G |
9: 124,423,977 (GRCm38) |
S60P |
unknown |
Het |
Prelp |
T |
C |
1: 133,842,257 (GRCm39) |
H296R |
probably damaging |
Het |
Prickle1 |
T |
C |
15: 93,398,749 (GRCm39) |
E693G |
possibly damaging |
Het |
Rars1 |
A |
G |
11: 35,706,488 (GRCm39) |
L477P |
probably damaging |
Het |
Rasal1 |
G |
A |
5: 120,802,172 (GRCm39) |
R328H |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,659,393 (GRCm39) |
F220S |
probably benign |
Het |
Rif1 |
C |
T |
2: 52,001,151 (GRCm39) |
S1535L |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,697,495 (GRCm39) |
I463T |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,690,695 (GRCm39) |
D1138E |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,335,236 (GRCm39) |
Y1251F |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,715,856 (GRCm39) |
W1568R |
possibly damaging |
Het |
Senp6 |
A |
G |
9: 80,049,433 (GRCm39) |
E1019G |
probably damaging |
Het |
Shh |
A |
G |
5: 28,663,461 (GRCm39) |
Y236H |
probably damaging |
Het |
Sin3a |
A |
G |
9: 57,014,744 (GRCm39) |
D655G |
probably damaging |
Het |
Slc35a4 |
C |
T |
18: 36,815,274 (GRCm39) |
P35S |
probably damaging |
Het |
Slc35g1 |
T |
C |
19: 38,384,633 (GRCm39) |
L24P |
probably benign |
Het |
Slc39a4 |
G |
T |
15: 76,498,759 (GRCm39) |
Q312K |
probably damaging |
Het |
Slc6a5 |
A |
T |
7: 49,601,175 (GRCm39) |
I659F |
probably damaging |
Het |
Slc7a4 |
T |
C |
16: 17,392,399 (GRCm39) |
Y345C |
probably benign |
Het |
Slco6c1 |
G |
T |
1: 96,993,809 (GRCm39) |
R645S |
probably benign |
Het |
Soat1 |
T |
C |
1: 156,268,923 (GRCm39) |
Y209C |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,054,714 (GRCm39) |
S953P |
probably benign |
Het |
Tgm1 |
G |
A |
14: 55,942,303 (GRCm39) |
H683Y |
probably benign |
Het |
Tmem98 |
G |
A |
11: 80,708,432 (GRCm39) |
R134Q |
probably damaging |
Het |
Trpm3 |
A |
C |
19: 22,955,745 (GRCm39) |
M1107L |
possibly damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,872 (GRCm39) |
V179I |
probably benign |
Het |
Vmn1r119 |
G |
T |
7: 20,745,638 (GRCm39) |
T248K |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,506,945 (GRCm39) |
I21N |
possibly damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,793,030 (GRCm39) |
T786A |
possibly damaging |
Het |
Vstm5 |
A |
T |
9: 15,168,585 (GRCm39) |
I50F |
probably damaging |
Het |
Wdr1 |
T |
C |
5: 38,685,255 (GRCm39) |
D572G |
probably damaging |
Het |
Xaf1 |
T |
C |
11: 72,192,517 (GRCm39) |
F5S |
probably benign |
Het |
Zan |
A |
T |
5: 137,468,519 (GRCm39) |
|
probably null |
Het |
Zfp697 |
T |
C |
3: 98,334,979 (GRCm39) |
V248A |
possibly damaging |
Het |
Zftraf1 |
C |
A |
15: 76,530,541 (GRCm39) |
V260L |
probably benign |
Het |
Zkscan3 |
T |
A |
13: 21,577,667 (GRCm39) |
T249S |
unknown |
Het |
Znfx1 |
A |
G |
2: 166,897,860 (GRCm39) |
Y355H |
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 |
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 |
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'- GGTCTGAGCTATACTTACAAAGGTC -3'
(R):5'- ACTGCCTGGTCCTGAATACC -3'
Sequencing Primer
(F):5'- CATATGTATGAGTGCATTTGAACATG -3'
(R):5'- GCCTGGTCCTGAATACCTAAGC -3'
|
Posted On |
2022-03-25 |