Incidental Mutation 'R5399:Abcb1b'
| ID |
429849 |
| 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 |
042970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R5399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8848147-8916314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8877410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 657
(S657P)
|
| 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: S657P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: S657P
| 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 |
noncoding transcript
Transcript: ENSMUST00000197499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199546
|
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
T |
2: 152,282,788 (GRCm39) |
L214F |
probably damaging |
Het |
| Abcb5 |
T |
A |
12: 118,875,234 (GRCm39) |
Y646F |
probably benign |
Het |
| Agl |
A |
T |
3: 116,575,277 (GRCm39) |
L620Q |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,743 (GRCm39) |
N1420S |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,911,573 (GRCm39) |
S28R |
possibly damaging |
Het |
| Bmal2 |
T |
G |
6: 146,724,159 (GRCm39) |
D350E |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,324,928 (GRCm39) |
K247* |
probably null |
Het |
| Ccdc196 |
A |
C |
12: 78,244,227 (GRCm39) |
N60T |
probably damaging |
Het |
| Clk4 |
T |
C |
11: 51,166,084 (GRCm39) |
Y17H |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,142 (GRCm39) |
Q722R |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,306 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,760,613 (GRCm39) |
G174V |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,462,018 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,243,516 (GRCm39) |
I515T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,253 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,804,480 (GRCm39) |
V1863L |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,403,977 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
T |
C |
4: 33,071,458 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gbgt1 |
C |
T |
2: 28,393,230 (GRCm39) |
P106L |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,352,890 (GRCm39) |
E927G |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,428 (GRCm39) |
I84F |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,034,495 (GRCm39) |
D1989Y |
probably damaging |
Het |
| Ihh |
C |
T |
1: 74,985,436 (GRCm39) |
A350T |
probably benign |
Het |
| Irx4 |
G |
C |
13: 73,413,658 (GRCm39) |
A43P |
probably benign |
Het |
| Itk |
A |
G |
11: 46,228,938 (GRCm39) |
V414A |
probably benign |
Het |
| Itsn2 |
A |
T |
12: 4,703,535 (GRCm39) |
I744L |
probably benign |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,427 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msc |
A |
T |
1: 14,825,780 (GRCm39) |
C65S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,876 (GRCm39) |
V343A |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,195,356 (GRCm39) |
I1218T |
possibly damaging |
Het |
| Mypn |
C |
T |
10: 62,955,965 (GRCm39) |
V1163I |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,360,213 (GRCm39) |
M152K |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t47 |
A |
G |
11: 58,442,969 (GRCm39) |
V32A |
probably benign |
Het |
| Or4c106 |
T |
A |
2: 88,682,999 (GRCm39) |
L235H |
probably damaging |
Het |
| Or4c3 |
T |
A |
2: 89,852,267 (GRCm39) |
T48S |
probably benign |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Ppp1r9b |
G |
A |
11: 94,882,974 (GRCm39) |
A201T |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,521,602 (GRCm39) |
F406S |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,174 (GRCm39) |
D298E |
probably benign |
Het |
| Rab4b |
A |
T |
7: 26,875,587 (GRCm39) |
N31K |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,967,040 (GRCm39) |
|
probably null |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Rtl1 |
A |
T |
12: 109,556,736 (GRCm39) |
L1701Q |
probably damaging |
Het |
| Sbno1 |
T |
A |
5: 124,530,804 (GRCm39) |
N831Y |
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,155 (GRCm39) |
K152E |
possibly damaging |
Het |
| Sema4b |
A |
G |
7: 79,874,634 (GRCm39) |
T675A |
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,776,433 (GRCm39) |
I196F |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,984,990 (GRCm39) |
S828N |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,971,266 (GRCm39) |
Y643* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,538,522 (GRCm39) |
H374R |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,853,265 (GRCm39) |
I42K |
probably damaging |
Het |
| Trmu |
A |
T |
15: 85,780,609 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,372 (GRCm39) |
D183E |
probably benign |
Het |
| Ttc22 |
T |
G |
4: 106,493,954 (GRCm39) |
F305V |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,970 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,516,727 (GRCm39) |
Q2289L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,809 (GRCm39) |
E142* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,701 (GRCm39) |
V279D |
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,125 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,393,744 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGCAGCTTACTCATCAGTTCCC -3'
(R):5'- CCAGAGGCACATCTTCATCC -3'
Sequencing Primer
(F):5'- CTCATCAGTTCCCATAATAACGTG -3'
(R):5'- TCCCAAAGGTTGAGGACACTTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation