Incidental Mutation 'R8054:Abcb1b'
| ID |
619246 |
| 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 |
067491-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R8054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8874272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 399
(N399S)
|
| 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: N399S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: N399S
| 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: 99.4%
|
| Validation Efficiency |
100% (75/75) |
| 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 |
|---|
| Akap9 |
T |
C |
5: 4,088,707 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
A |
G |
5: 90,438,914 (GRCm39) |
I483T |
probably benign |
Het |
| Arl13b |
T |
C |
16: 62,626,960 (GRCm39) |
D247G |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,459,969 (GRCm39) |
I415V |
probably benign |
Het |
| Brpf3 |
C |
A |
17: 29,055,571 (GRCm39) |
S1173R |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,821,339 (GRCm39) |
Y129H |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,583,215 (GRCm39) |
L966P |
unknown |
Het |
| Cfap61 |
A |
G |
2: 145,815,438 (GRCm39) |
N249S |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,141,268 (GRCm39) |
Y541N |
possibly damaging |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
T |
G |
19: 43,995,555 (GRCm39) |
E404A |
probably damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,871 (GRCm39) |
E281G |
possibly damaging |
Het |
| Cyp2r1 |
T |
A |
7: 114,151,319 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
T |
A |
2: 103,985,390 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Dbx1 |
A |
T |
7: 49,282,498 (GRCm39) |
W236R |
probably damaging |
Het |
| Dcp2 |
T |
G |
18: 44,538,774 (GRCm39) |
N251K |
probably benign |
Het |
| Disp1 |
A |
T |
1: 182,869,812 (GRCm39) |
Y869* |
probably null |
Het |
| Dnajc8 |
T |
A |
4: 132,272,068 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,621,226 (GRCm39) |
N822D |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
| Eml3 |
A |
T |
19: 8,916,414 (GRCm39) |
T670S |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,187,938 (GRCm39) |
D1530E |
possibly damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,331 (GRCm39) |
Y331N |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,837 (GRCm39) |
R791G |
possibly damaging |
Het |
| Itprid1 |
A |
T |
6: 55,953,424 (GRCm39) |
K913N |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,709,441 (GRCm39) |
R523G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,741,806 (GRCm39) |
D4451E |
unknown |
Het |
| Lax1 |
T |
C |
1: 133,611,345 (GRCm39) |
T76A |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,689,181 (GRCm39) |
|
probably benign |
Het |
| Mcu |
G |
A |
10: 59,290,817 (GRCm39) |
T121M |
probably damaging |
Het |
| Mepce |
T |
A |
5: 137,783,004 (GRCm39) |
K441* |
probably null |
Het |
| Mettl21e |
C |
A |
1: 44,245,815 (GRCm39) |
V144F |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,231,748 (GRCm39) |
S1049C |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,274,551 (GRCm39) |
V1246M |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,329 (GRCm39) |
Q1128L |
probably benign |
Het |
| Nat8f2 |
T |
C |
6: 85,844,754 (GRCm39) |
S203G |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,652 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,956 (GRCm39) |
|
probably benign |
Het |
| Oplah |
C |
T |
15: 76,190,457 (GRCm39) |
R102H |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,090 (GRCm39) |
I52N |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,184 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or6d13 |
A |
G |
6: 116,517,960 (GRCm39) |
H182R |
probably damaging |
Het |
| Or8g20 |
C |
A |
9: 39,396,033 (GRCm39) |
C172F |
probably damaging |
Het |
| Osgep |
C |
T |
14: 51,162,128 (GRCm39) |
|
probably benign |
Het |
| Pam |
A |
T |
1: 97,768,114 (GRCm39) |
D705E |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,373,008 (GRCm39) |
N1284K |
probably damaging |
Het |
| Plekhg2 |
A |
G |
7: 28,064,741 (GRCm39) |
F407S |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,274,113 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,720 (GRCm39) |
N37S |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,424,972 (GRCm39) |
D213V |
probably damaging |
Het |
| Skint11 |
A |
T |
4: 114,101,806 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Skint7 |
A |
T |
4: 111,839,426 (GRCm39) |
H240L |
probably benign |
Het |
| Slc12a2 |
C |
T |
18: 58,054,944 (GRCm39) |
Q862* |
probably null |
Het |
| Smox |
A |
G |
2: 131,364,100 (GRCm39) |
S468G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,257 (GRCm39) |
S50P |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,052,326 (GRCm39) |
S683T |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,220,970 (GRCm39) |
E3103G |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,378,553 (GRCm39) |
|
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,974,186 (GRCm39) |
I294N |
probably damaging |
Het |
| Tmem123 |
T |
C |
9: 7,791,064 (GRCm39) |
S122P |
possibly damaging |
Het |
| Trav18 |
A |
T |
14: 54,068,572 (GRCm39) |
K4I |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,583,420 (GRCm39) |
S394G |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,195,413 (GRCm39) |
S1212C |
unknown |
Het |
| Usp34 |
G |
A |
11: 23,311,295 (GRCm39) |
R442Q |
|
Het |
| Usp43 |
G |
A |
11: 67,782,284 (GRCm39) |
P378L |
probably damaging |
Het |
| Vmn1r212 |
A |
G |
13: 23,067,935 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,910 (GRCm39) |
I164M |
possibly damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,998 (GRCm39) |
P347S |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,355,000 (GRCm39) |
V1280E |
possibly damaging |
Het |
| Zfp317 |
T |
C |
9: 19,553,265 (GRCm39) |
S13P |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,032,618 (GRCm39) |
A441S |
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,816,248 (GRCm39) |
D232G |
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 |
|
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'- GTCTGACCTGCCCATTTAGC -3'
(R):5'- CAATGTTAGGCCGGTTTCCAGG -3'
Sequencing Primer
(F):5'- CTGATTGAGCCAATTTCATGATTGC -3'
(R):5'- TTTCCAGGACAGATGGATGCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation