Incidental Mutation 'R6944:Abcb1b'
| ID |
540761 |
| 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 |
045058-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R6944 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8863693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 216
(V216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000196580]
[ENSMUST00000199955]
|
| AlphaFold |
P06795 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009058
AA Change: V216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: V216G
| 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: ENSMUST00000196580
|
| SMART Domains |
Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4M2T|B
|
1 |
78 |
2e-26 |
PDB |
|
Blast:AAA
|
33 |
78 |
2e-11 |
BLAST |
|
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
97% (75/77) |
| 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 |
|---|
| Abcb5 |
T |
C |
12: 118,875,265 (GRCm39) |
R636G |
probably benign |
Het |
| Ago1 |
G |
T |
4: 126,354,215 (GRCm39) |
F198L |
possibly damaging |
Het |
| Ankrd42 |
C |
T |
7: 92,268,755 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
T |
A |
14: 25,875,176 (GRCm39) |
F274I |
probably damaging |
Het |
| Ascc1 |
T |
C |
10: 59,849,475 (GRCm39) |
L122P |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,971,649 (GRCm39) |
S953G |
probably damaging |
Het |
| Chml |
T |
A |
1: 175,515,727 (GRCm39) |
N65Y |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,578,284 (GRCm39) |
K262E |
probably damaging |
Het |
| Clhc1 |
T |
G |
11: 29,519,346 (GRCm39) |
D384E |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,373,128 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,073,730 (GRCm39) |
V627A |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,370 (GRCm39) |
V755A |
probably damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,743,738 (GRCm39) |
I406F |
probably benign |
Het |
| Dclre1a |
T |
C |
19: 56,533,451 (GRCm39) |
E381G |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 30,990,861 (GRCm39) |
Y3153H |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 31,013,633 (GRCm39) |
D3791E |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,975,975 (GRCm39) |
E1358G |
possibly damaging |
Het |
| Eef1g |
G |
A |
19: 8,945,656 (GRCm39) |
R30H |
probably benign |
Het |
| Egln3 |
A |
T |
12: 54,230,738 (GRCm39) |
I181N |
probably benign |
Het |
| Entpd6 |
A |
G |
2: 150,605,519 (GRCm39) |
T250A |
probably damaging |
Het |
| Epb41l5 |
C |
T |
1: 119,536,859 (GRCm39) |
R344Q |
probably damaging |
Het |
| Fam20b |
T |
C |
1: 156,515,091 (GRCm39) |
D258G |
probably benign |
Het |
| Fbxw18 |
A |
T |
9: 109,531,655 (GRCm39) |
D21E |
probably damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,986,603 (GRCm39) |
E92G |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,889,212 (GRCm39) |
M110K |
possibly damaging |
Het |
| Golgb1 |
C |
T |
16: 36,732,475 (GRCm39) |
P574L |
probably benign |
Het |
| Gpr153 |
A |
G |
4: 152,363,820 (GRCm39) |
E80G |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Kcnt1 |
T |
C |
2: 25,767,840 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
G |
1: 140,511,803 (GRCm39) |
V962G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,570,991 (GRCm39) |
V109A |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,064,587 (GRCm39) |
I288V |
probably benign |
Het |
| Mief1 |
C |
T |
15: 80,133,644 (GRCm39) |
R234C |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,667,460 (GRCm39) |
S613G |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,439,387 (GRCm39) |
E345G |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,548,889 (GRCm39) |
T133A |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,380,162 (GRCm39) |
V16A |
possibly damaging |
Het |
| Oas1f |
G |
A |
5: 120,986,247 (GRCm39) |
E67K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,929,756 (GRCm39) |
K5153R |
probably damaging |
Het |
| Or2w3b |
T |
A |
11: 58,623,068 (GRCm39) |
S308C |
possibly damaging |
Het |
| Or5a3 |
G |
T |
19: 12,400,628 (GRCm39) |
M318I |
probably benign |
Het |
| Or5g26 |
C |
T |
2: 85,494,195 (GRCm39) |
M194I |
probably benign |
Het |
| Or6d12 |
T |
C |
6: 116,492,791 (GRCm39) |
F18L |
possibly damaging |
Het |
| Pdcd2 |
T |
C |
17: 15,745,632 (GRCm39) |
N185S |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,569,320 (GRCm39) |
W349R |
probably damaging |
Het |
| Prpf39 |
T |
A |
12: 65,089,454 (GRCm39) |
V64E |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,624,857 (GRCm39) |
W54R |
probably null |
Het |
| Rbms3 |
G |
T |
9: 116,939,173 (GRCm39) |
P29Q |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,940,822 (GRCm39) |
L679P |
probably benign |
Het |
| Samd4 |
T |
A |
14: 47,254,092 (GRCm39) |
D84E |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,413,032 (GRCm39) |
V426A |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 125,002,454 (GRCm39) |
N145D |
probably damaging |
Het |
| Slc2a6 |
A |
T |
2: 26,916,076 (GRCm39) |
M99K |
probably damaging |
Het |
| Slc34a2 |
A |
T |
5: 53,222,225 (GRCm39) |
I306L |
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,910,195 (GRCm39) |
K397E |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,155,949 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
A |
C |
10: 82,132,056 (GRCm39) |
I318R |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,592,835 (GRCm39) |
E1502G |
probably damaging |
Het |
| Sri |
A |
T |
5: 8,113,365 (GRCm39) |
T119S |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,915,912 (GRCm39) |
L1085H |
probably damaging |
Het |
| Taf7 |
A |
T |
18: 37,775,910 (GRCm39) |
L219H |
probably damaging |
Het |
| Tmco3 |
T |
A |
8: 13,353,729 (GRCm39) |
V347E |
probably damaging |
Het |
| Tmem8b |
A |
T |
4: 43,674,465 (GRCm39) |
I250F |
probably damaging |
Het |
| Tom1l2 |
A |
G |
11: 60,139,817 (GRCm39) |
V239A |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,893,181 (GRCm39) |
M1011K |
probably damaging |
Het |
| Tspan9 |
A |
T |
6: 127,942,769 (GRCm39) |
Y153N |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,642,306 (GRCm39) |
H675R |
probably benign |
Het |
| Unc50 |
C |
T |
1: 37,471,743 (GRCm39) |
T131M |
probably damaging |
Het |
| Vgf |
T |
A |
5: 137,061,206 (GRCm39) |
I456N |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,483 (GRCm39) |
I26V |
unknown |
Het |
| Vmn1r39 |
T |
C |
6: 66,782,205 (GRCm39) |
M1V |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,925 (GRCm39) |
T664A |
probably benign |
Het |
| Vmn2r14 |
G |
A |
5: 109,364,140 (GRCm39) |
T592I |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,891 (GRCm39) |
F489L |
probably benign |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,393 (GRCm39) |
F817L |
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 |
|
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'- CTGGAAACAATCTGTCATGTGG -3'
(R):5'- GCAGAGTCATCCTATCCCAC -3'
Sequencing Primer
(F):5'- AATTTATGTCAGACTCAGTGATGC -3'
(R):5'- TATCCCACTTATTGGCAAACAGAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation