Incidental Mutation 'R7681:Abcb1b'
| ID |
592746 |
| 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 |
045747-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R7681 (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 8899619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 963
(A963V)
|
| 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: A963V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: A963V
| 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: ENSMUST00000198650
|
| 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 |
0.0934 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,094,649 (GRCm39) |
V760A |
unknown |
Het |
| Akap13 |
T |
C |
7: 75,378,544 (GRCm39) |
F347L |
possibly damaging |
Het |
| Anapc5 |
A |
T |
5: 122,940,202 (GRCm39) |
F356L |
probably benign |
Het |
| Bmp6 |
A |
G |
13: 38,530,171 (GRCm39) |
H88R |
probably damaging |
Het |
| Cblb |
C |
A |
16: 52,025,001 (GRCm39) |
S921R |
probably damaging |
Het |
| Ccs |
T |
A |
19: 4,882,858 (GRCm39) |
|
probably null |
Het |
| Cyp20a1 |
A |
G |
1: 60,392,192 (GRCm39) |
T83A |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,574,535 (GRCm39) |
D26E |
probably benign |
Het |
| Dmwd |
T |
A |
7: 18,815,007 (GRCm39) |
N552K |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,916,012 (GRCm39) |
V4297M |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,106,996 (GRCm39) |
S47R |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,455,461 (GRCm39) |
C574* |
probably null |
Het |
| Fgb |
T |
C |
3: 82,957,139 (GRCm39) |
|
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,045,677 (GRCm39) |
T82I |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,123,095 (GRCm39) |
L262M |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,637,413 (GRCm39) |
Q380L |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,600,505 (GRCm39) |
G448D |
probably benign |
Het |
| Gnb4 |
C |
A |
3: 32,641,902 (GRCm39) |
A242S |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,794,331 (GRCm39) |
|
probably null |
Het |
| Grik2 |
G |
T |
10: 49,120,476 (GRCm39) |
N604K |
probably damaging |
Het |
| Hnf1b |
T |
G |
11: 83,779,972 (GRCm39) |
I435S |
probably damaging |
Het |
| Hoxa11 |
C |
T |
6: 52,222,099 (GRCm39) |
G201S |
probably benign |
Het |
| Hpse |
A |
G |
5: 100,839,257 (GRCm39) |
S364P |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,598,046 (GRCm39) |
N525K |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,982,666 (GRCm39) |
C704S |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,303,354 (GRCm39) |
S322P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,765,011 (GRCm39) |
C2938* |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,222,913 (GRCm39) |
R2071G |
unknown |
Het |
| Man2a2 |
T |
A |
7: 80,001,497 (GRCm39) |
I1137F |
possibly damaging |
Het |
| Map2k6 |
C |
T |
11: 110,388,729 (GRCm39) |
R224* |
probably null |
Het |
| Map3k4 |
G |
A |
17: 12,537,430 (GRCm39) |
P29L |
unknown |
Het |
| Morn5 |
A |
T |
2: 35,947,156 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Muc20 |
T |
C |
16: 32,613,989 (GRCm39) |
T463A |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,662,762 (GRCm39) |
T642I |
probably damaging |
Het |
| Myh14 |
C |
A |
7: 44,273,572 (GRCm39) |
R1362L |
possibly damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,711 (GRCm39) |
V23L |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,761 (GRCm39) |
I106V |
probably benign |
Het |
| Or4c116 |
A |
C |
2: 88,941,935 (GRCm39) |
V307G |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,590,355 (GRCm39) |
M261T |
possibly damaging |
Het |
| Pabpn1 |
T |
C |
14: 55,135,499 (GRCm39) |
Y299H |
probably damaging |
Het |
| Pak4 |
T |
C |
7: 28,259,655 (GRCm39) |
E514G |
probably damaging |
Het |
| Ppp1r12b |
A |
C |
1: 134,793,673 (GRCm39) |
S564A |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,008,272 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
G |
11: 30,741,975 (GRCm39) |
Y146C |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,310,547 (GRCm39) |
D315G |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,668,976 (GRCm39) |
V24A |
possibly damaging |
Het |
| Rtel1 |
A |
T |
2: 180,964,187 (GRCm39) |
H62L |
probably damaging |
Het |
| Ruvbl1 |
G |
A |
6: 88,444,635 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,359,043 (GRCm39) |
V668A |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,603,493 (GRCm39) |
G519E |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,454,499 (GRCm39) |
I348N |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,910,338 (GRCm39) |
L347Q |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,822,531 (GRCm39) |
L658H |
probably damaging |
Het |
| Spata31e4 |
C |
T |
13: 50,856,290 (GRCm39) |
P643S |
possibly damaging |
Het |
| Spidr |
C |
A |
16: 15,713,488 (GRCm39) |
G832W |
probably damaging |
Het |
| Ssrp1 |
G |
A |
2: 84,876,092 (GRCm39) |
G616E |
probably benign |
Het |
| Sult1b1 |
G |
A |
5: 87,678,495 (GRCm39) |
L110F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,834,235 (GRCm39) |
H224L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,295 (GRCm39) |
E34564K |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,237,618 (GRCm39) |
D1285G |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,101,664 (GRCm39) |
E555G |
probably benign |
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 |
|
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'- TAGAACTGGAGTGCACGGTATCTG -3'
(R):5'- AAGTTTCCTTTGGCGGTTCC -3'
Sequencing Primer
(F):5'- AGTGCACGGTATCTGTCACG -3'
(R):5'- CCTTTGGCGGTTCCTAATTAAATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation