Incidental Mutation 'R9292:Abcb1b'
| ID |
704328 |
| 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 # |
R9292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8862843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 175
(T175I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009058]
[ENSMUST00000196580]
[ENSMUST00000199955]
|
| AlphaFold |
P06795 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009058
AA Change: T175I
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: T175I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
T |
C |
17: 13,146,255 (GRCm39) |
T243A |
probably benign |
Het |
| Aebp1 |
C |
A |
11: 5,815,260 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,568,867 (GRCm39) |
F723L |
probably damaging |
Het |
| Atp13a4 |
T |
A |
16: 29,241,500 (GRCm39) |
I723F |
|
Het |
| Bop1 |
T |
C |
15: 76,351,031 (GRCm39) |
T97A |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,114 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,832,688 (GRCm39) |
E1538K |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,585,805 (GRCm39) |
V1218E |
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,110,868 (GRCm39) |
M212K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,403,120 (GRCm39) |
T3141A |
probably damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,176,916 (GRCm39) |
T624A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,995 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,416,775 (GRCm39) |
V892E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,921,382 (GRCm39) |
R1370G |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,784,429 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,498,799 (GRCm39) |
I225N |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,049 (GRCm39) |
V422L |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,191,221 (GRCm39) |
H54L |
probably benign |
Het |
| Gabbr1 |
T |
G |
17: 37,366,784 (GRCm39) |
I336S |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,692,037 (GRCm39) |
F194S |
probably damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,534,964 (GRCm39) |
Q189* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,273,563 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,452,047 (GRCm39) |
E247G |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,486,558 (GRCm39) |
R238G |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,583,436 (GRCm39) |
S412Y |
probably damaging |
Het |
| Nup210 |
A |
C |
6: 91,051,235 (GRCm39) |
S383A |
possibly damaging |
Het |
| Or10j3 |
C |
T |
1: 173,031,099 (GRCm39) |
P59S |
probably damaging |
Het |
| Or11g2 |
T |
C |
14: 50,856,513 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,071 (GRCm39) |
N206Y |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,403,218 (GRCm39) |
Y198N |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,713 (GRCm39) |
I421L |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,536,751 (GRCm39) |
I149T |
probably benign |
Het |
| Peli3 |
G |
A |
19: 4,988,117 (GRCm39) |
P81L |
possibly damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,234,883 (GRCm39) |
S30P |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,942,042 (GRCm39) |
L263Q |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,238,879 (GRCm39) |
M190V |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,285,963 (GRCm39) |
E186G |
probably benign |
Het |
| Ralyl |
T |
A |
3: 14,172,312 (GRCm39) |
D60E |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,406,006 (GRCm39) |
Y97H |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,640,560 (GRCm39) |
V457E |
unknown |
Het |
| Sh2d4b |
C |
G |
14: 40,537,914 (GRCm39) |
E403Q |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,932,707 (GRCm39) |
E65G |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,148,075 (GRCm39) |
V905A |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,005,832 (GRCm39) |
F198S |
probably benign |
Het |
| St18 |
C |
A |
1: 6,898,106 (GRCm39) |
T636K |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,299,712 (GRCm39) |
D874E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,671,574 (GRCm39) |
T502A |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,278,787 (GRCm39) |
I457V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,997,823 (GRCm39) |
C2266F |
probably benign |
Het |
| Tcirg1 |
T |
C |
19: 3,947,840 (GRCm39) |
N532D |
probably damaging |
Het |
| Tfdp1 |
T |
A |
8: 13,420,580 (GRCm39) |
N136K |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,926,173 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,979 (GRCm39) |
I190V |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,046,177 (GRCm39) |
V1208M |
probably damaging |
Het |
| Tulp1 |
T |
A |
17: 28,582,738 (GRCm39) |
K137* |
probably null |
Het |
| Zfp534 |
A |
T |
4: 147,759,095 (GRCm39) |
C525S |
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 |
|
|
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'- CCTACTATTACACCGGGATTGG -3'
(R):5'- TATTCAGTGCCAGGCAAGC -3'
Sequencing Primer
(F):5'- ACCGGGATTGGTGCTGG -3'
(R):5'- TGCCAGGCAAGCAGGAGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation