Incidental Mutation 'R2157:Abcb1b'
| ID |
234895 |
| 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 |
040160-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R2157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8874791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 484
(A484T)
|
| 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: A484T
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: A484T
| 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 |
noncoding transcript
Transcript: ENSMUST00000199546
|
| 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 |
0.1456 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
T |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| 4930590J08Rik |
T |
A |
6: 91,919,468 (GRCm39) |
M709K |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,679 (GRCm39) |
|
probably null |
Het |
| A930011G23Rik |
T |
G |
5: 99,379,956 (GRCm39) |
I394L |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,527,170 (GRCm39) |
M4528L |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,219,891 (GRCm39) |
M660K |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,159,283 (GRCm39) |
N322K |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Amotl2 |
A |
G |
9: 102,607,788 (GRCm39) |
|
probably benign |
Het |
| Apoa1 |
T |
C |
9: 46,140,471 (GRCm39) |
V34A |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,987 (GRCm39) |
A113V |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,696,231 (GRCm39) |
D13G |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,662,976 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,106,203 (GRCm39) |
T41I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,190,921 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
T |
C |
10: 116,898,714 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,583,873 (GRCm39) |
I571T |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Comp |
C |
T |
8: 70,832,220 (GRCm39) |
Q554* |
probably null |
Het |
| Csf2ra |
T |
C |
19: 61,215,509 (GRCm39) |
T70A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,559,183 (GRCm39) |
E2256G |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,669,208 (GRCm39) |
V1158D |
probably benign |
Het |
| Dner |
A |
G |
1: 84,361,659 (GRCm39) |
F650S |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,135,462 (GRCm39) |
N437S |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,592,076 (GRCm39) |
I176V |
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,495,928 (GRCm39) |
C597S |
probably benign |
Het |
| Edf1 |
T |
C |
2: 25,448,043 (GRCm39) |
|
probably null |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Enpp3 |
A |
G |
10: 24,652,776 (GRCm39) |
F727S |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,852,243 (GRCm39) |
M583I |
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,116,659 (GRCm39) |
F117S |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,372 (GRCm39) |
M811K |
possibly damaging |
Het |
| Gm5117 |
A |
T |
8: 32,228,222 (GRCm39) |
|
noncoding transcript |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Grik1 |
G |
A |
16: 87,853,012 (GRCm39) |
A57V |
probably damaging |
Het |
| Hdgfl2 |
G |
A |
17: 56,405,691 (GRCm39) |
V476I |
possibly damaging |
Het |
| Il17b |
G |
T |
18: 61,823,439 (GRCm39) |
W91L |
probably damaging |
Het |
| Jph4 |
C |
A |
14: 55,350,984 (GRCm39) |
R344L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,664,005 (GRCm39) |
D522G |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,179,480 (GRCm39) |
L398S |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,214 (GRCm39) |
T132A |
probably benign |
Het |
| Mbtps1 |
G |
T |
8: 120,269,466 (GRCm39) |
T208K |
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,022,376 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,828,240 (GRCm39) |
L140F |
probably damaging |
Het |
| Mybpc2 |
C |
G |
7: 44,159,269 (GRCm39) |
D594H |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,647,164 (GRCm39) |
M570V |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,287,277 (GRCm39) |
I397T |
probably damaging |
Het |
| Ndufs4 |
C |
T |
13: 114,453,514 (GRCm39) |
V75I |
probably damaging |
Het |
| Nek4 |
T |
A |
14: 30,701,925 (GRCm39) |
|
probably null |
Het |
| Nfatc1 |
G |
T |
18: 80,679,060 (GRCm39) |
A762D |
possibly damaging |
Het |
| Nhsl3 |
C |
T |
4: 129,117,917 (GRCm39) |
R249H |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,324,866 (GRCm39) |
I1209T |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,250 (GRCm39) |
I159T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,213 (GRCm39) |
N88I |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,877 (GRCm39) |
D421G |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,820,112 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,466,755 (GRCm39) |
I212N |
probably damaging |
Het |
| Plcd3 |
A |
T |
11: 102,961,974 (GRCm39) |
C711S |
probably benign |
Het |
| Plscr5 |
G |
A |
9: 92,080,550 (GRCm39) |
R12K |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,493,909 (GRCm39) |
I236V |
probably benign |
Het |
| Ppp1r26 |
T |
C |
2: 28,342,370 (GRCm39) |
F667L |
probably benign |
Het |
| Prkx |
A |
G |
X: 76,814,920 (GRCm39) |
F247L |
probably benign |
Het |
| Qpct |
G |
A |
17: 79,378,115 (GRCm39) |
R95Q |
probably benign |
Het |
| Ralgapb |
G |
T |
2: 158,279,392 (GRCm39) |
M159I |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,445,997 (GRCm39) |
L277P |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,669 (GRCm39) |
S705P |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,704,254 (GRCm39) |
T750A |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,029,166 (GRCm39) |
V106D |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,141,230 (GRCm39) |
E6114G |
probably damaging |
Het |
| Tat |
T |
C |
8: 110,724,236 (GRCm39) |
M375T |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,436,522 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
T |
C |
5: 86,861,587 (GRCm39) |
K320E |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,685,840 (GRCm39) |
I357T |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,638 (GRCm39) |
R294S |
possibly damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,443 (GRCm39) |
D726N |
probably damaging |
Het |
| Vpreb1b |
T |
A |
16: 17,798,934 (GRCm39) |
L140* |
probably null |
Het |
| Wfs1 |
G |
A |
5: 37,125,286 (GRCm39) |
P535L |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,229,532 (GRCm39) |
L307P |
probably damaging |
Het |
| Zfp160 |
A |
G |
17: 21,241,090 (GRCm39) |
S53G |
probably benign |
Het |
| Zfp319 |
A |
G |
8: 96,054,659 (GRCm39) |
C515R |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,974,929 (GRCm39) |
F24L |
possibly damaging |
Het |
| Zzef1 |
A |
T |
11: 72,739,460 (GRCm39) |
|
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 |
|
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 |
|
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'- TAGCCAGCACCAGTTAATGC -3'
(R):5'- TGGATTTCCCAGCTAAGGC -3'
Sequencing Primer
(F):5'- GCACCAGTTAATGCTGCTCAC -3'
(R):5'- GGCACTTGTTCTACCTCAGAGAAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation