Incidental Mutation 'R8283:Abcb1b'
| ID |
638301 |
| 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 |
067706-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R8283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8856086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 65
(P65S)
|
| 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: P65S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: P65S
| 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 damaging
Transcript: ENSMUST00000196580
AA Change: P65S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970
AA Change: P65S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4M2T|B
|
1 |
78 |
2e-26 |
PDB |
|
Blast:AAA
|
33 |
78 |
2e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199955
AA Change: P65S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970
AA Change: P65S
| 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: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
| Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,800 (GRCm39) |
L50Q |
noncoding transcript |
Het |
| Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
| Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
| Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
| Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,671,952 (GRCm39) |
T17A |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
| Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
| Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
| Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,386,848 (GRCm39) |
D186V |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,355,675 (GRCm39) |
N699T |
probably benign |
Het |
| Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
| Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
| Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
| Pcdhgc3 |
C |
A |
18: 37,940,694 (GRCm39) |
A365D |
probably damaging |
Het |
| Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
| Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
| Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
| Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
| Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
| Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
| Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
| Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
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 |
|
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'- CTGGTGTTACACAGTAGCGTG -3'
(R):5'- AACCTGAATGAGAGCGCTG -3'
Sequencing Primer
(F):5'- TTACACAGTAGCGTGGCAGTC -3'
(R):5'- TGAATGAGAGCGCTGACCCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation