Incidental Mutation 'R8715:Abcb1b'
| ID |
669807 |
| 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 |
068613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R8715 (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 T
at 8862750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 144
(H144L)
|
| 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: H144L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: H144L
| 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 |
|
| Meta Mutation Damage Score |
0.0822 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,207,099 (GRCm39) |
N122D |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,858,516 (GRCm39) |
F187S |
possibly damaging |
Het |
| Atosb |
A |
G |
4: 43,033,944 (GRCm39) |
V444A |
possibly damaging |
Het |
| Best3 |
T |
A |
10: 116,828,971 (GRCm39) |
F84I |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,871,315 (GRCm39) |
D729E |
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,328,153 (GRCm39) |
F104I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
G |
A |
9: 107,874,596 (GRCm39) |
V9M |
|
Het |
| Cfap46 |
T |
C |
7: 139,185,560 (GRCm39) |
T41A |
|
Het |
| Cyp2c66 |
A |
G |
19: 39,159,388 (GRCm39) |
T280A |
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,214,342 (GRCm39) |
D1049N |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 37,405,795 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,299 (GRCm39) |
T526A |
probably benign |
Het |
| Gimap6 |
A |
T |
6: 48,679,552 (GRCm39) |
D161E |
probably damaging |
Het |
| Gmpr |
T |
C |
13: 45,696,102 (GRCm39) |
V282A |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,431,245 (GRCm39) |
I190V |
possibly damaging |
Het |
| Gucy2d |
C |
T |
7: 98,093,319 (GRCm39) |
T232I |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,396,490 (GRCm39) |
S2358I |
possibly damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,805,239 (GRCm39) |
N354D |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,915,526 (GRCm39) |
E112G |
probably damaging |
Het |
| Msh6 |
C |
T |
17: 88,293,195 (GRCm39) |
T650I |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,959,242 (GRCm39) |
V203A |
possibly damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
| Naa11 |
A |
G |
5: 97,540,066 (GRCm39) |
Y31H |
probably damaging |
Het |
| Nphp1 |
G |
T |
2: 127,605,729 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Or1p4-ps1 |
T |
A |
11: 74,207,986 (GRCm39) |
I45N |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,232,154 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or5m13 |
G |
A |
2: 85,748,273 (GRCm39) |
M1I |
probably null |
Het |
| Osbpl9 |
A |
G |
4: 108,959,773 (GRCm39) |
F15S |
probably benign |
Het |
| Pcdha12 |
A |
C |
18: 37,153,523 (GRCm39) |
N81H |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,071,876 (GRCm39) |
Q290R |
probably benign |
Het |
| Pla1a |
A |
T |
16: 38,230,000 (GRCm39) |
N237K |
probably damaging |
Het |
| Podnl1 |
T |
C |
8: 84,855,956 (GRCm39) |
Y239H |
|
Het |
| Pou4f3 |
G |
T |
18: 42,528,593 (GRCm39) |
D179Y |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,968,719 (GRCm39) |
V995A |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,463 (GRCm39) |
C1403Y |
probably damaging |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,349,888 (GRCm39) |
E92G |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,773,803 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,671,728 (GRCm39) |
T2140M |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,917,177 (GRCm39) |
N164S |
probably benign |
Het |
| Shisal1 |
A |
C |
15: 84,301,346 (GRCm39) |
V99G |
probably damaging |
Het |
| Tdrkh |
T |
C |
3: 94,331,968 (GRCm39) |
V131A |
probably damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,244,724 (GRCm39) |
N51I |
probably damaging |
Het |
| Trav4-3 |
A |
G |
14: 53,836,762 (GRCm39) |
N76D |
possibly damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,619 (GRCm39) |
I122F |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,922 (GRCm39) |
|
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,644 (GRCm39) |
E525G |
probably damaging |
Het |
| Zfp976 |
C |
T |
7: 42,262,869 (GRCm39) |
E324K |
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 |
|
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 |
|
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'- CGTAGACAGATGCTGACCACTAC -3'
(R):5'- ACTCTGCTCAGTTATGCACCG -3'
Sequencing Primer
(F):5'- TGACCACTACAGCTCCTTACAACTG -3'
(R):5'- GGCACACCTAACAGATGTGGTATC -3'
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| Posted On |
2021-04-30 |
Incidental Mutation