Incidental Mutation 'R4628:Abcb4'
ID |
500730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb4
|
Ensembl Gene |
ENSMUSG00000042476 |
Gene Name |
ATP-binding cassette, sub-family B member 4 |
Synonyms |
mdr-2, Mdr2, Pgy2, Pgy-2 |
MMRRC Submission |
041893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4628 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8957399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 176
(D176G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
AlphaFold |
P21440 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003717
AA Change: D176G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476 AA Change: D176G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
54 |
342 |
2e-94 |
PFAM |
AAA
|
418 |
610 |
3.97e-20 |
SMART |
Pfam:ABC_membrane
|
708 |
982 |
6.3e-77 |
PFAM |
AAA
|
1058 |
1246 |
4.49e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196067
AA Change: D176G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142425 Gene: ENSMUSG00000042476 AA Change: D176G
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
54 |
344 |
2.4e-95 |
PFAM |
AAA
|
418 |
610 |
6.2e-22 |
SMART |
Pfam:ABC_membrane
|
708 |
882 |
1.6e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,851,022 (GRCm39) |
|
probably null |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,989 (GRCm39) |
T815A |
probably benign |
Het |
Arid3a |
T |
C |
10: 79,766,992 (GRCm39) |
S89P |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,371,000 (GRCm39) |
D63V |
probably damaging |
Het |
Atxn3 |
T |
A |
12: 101,889,337 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
C |
T |
12: 31,676,806 (GRCm39) |
S88N |
probably benign |
Het |
Bsn |
G |
T |
9: 107,990,434 (GRCm39) |
P1773T |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,890,024 (GRCm39) |
S423P |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,444,372 (GRCm39) |
R438G |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,710,091 (GRCm39) |
M289K |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,313,229 (GRCm39) |
Y26* |
probably null |
Het |
Colec10 |
A |
G |
15: 54,323,127 (GRCm39) |
T117A |
possibly damaging |
Het |
Colq |
C |
A |
14: 31,265,979 (GRCm39) |
G178V |
probably damaging |
Het |
Defb3 |
A |
T |
8: 19,345,156 (GRCm39) |
R37S |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,733 (GRCm39) |
Y1418C |
probably damaging |
Het |
Engase |
C |
T |
11: 118,375,731 (GRCm39) |
S33F |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,324 (GRCm39) |
T1259S |
probably damaging |
Het |
Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,253,186 (GRCm39) |
F1379I |
possibly damaging |
Het |
Fndc3b |
T |
C |
3: 27,610,277 (GRCm39) |
I86V |
probably benign |
Het |
Gm1123 |
A |
G |
9: 98,896,289 (GRCm39) |
V197A |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,457,964 (GRCm39) |
V463E |
probably damaging |
Het |
Gm9772 |
T |
C |
17: 22,226,188 (GRCm39) |
K32R |
probably damaging |
Het |
Gm9804 |
T |
C |
12: 49,448,540 (GRCm39) |
S161P |
unknown |
Het |
Gpr162 |
C |
T |
6: 124,838,405 (GRCm39) |
D82N |
probably benign |
Het |
Grid2ip |
T |
C |
5: 143,368,630 (GRCm39) |
V650A |
probably damaging |
Het |
Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
Hsd3b6 |
T |
G |
3: 98,713,895 (GRCm39) |
K135Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,887,468 (GRCm39) |
D2532G |
possibly damaging |
Het |
Iqgap2 |
A |
G |
13: 95,899,837 (GRCm39) |
Y74H |
probably benign |
Het |
Itga2 |
A |
G |
13: 115,014,229 (GRCm39) |
V233A |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lcmt1 |
T |
A |
7: 123,010,035 (GRCm39) |
C183* |
probably null |
Het |
Lcn5 |
A |
G |
2: 25,548,075 (GRCm39) |
E28G |
possibly damaging |
Het |
Leo1 |
A |
T |
9: 75,352,979 (GRCm39) |
D174V |
probably damaging |
Het |
Llgl1 |
A |
T |
11: 60,600,811 (GRCm39) |
T636S |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,283,981 (GRCm39) |
C69S |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,703,891 (GRCm39) |
|
probably benign |
Het |
Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mrpl24 |
A |
C |
3: 87,829,436 (GRCm39) |
|
probably null |
Het |
Myo18a |
G |
A |
11: 77,714,962 (GRCm39) |
V834M |
probably damaging |
Het |
Neb |
T |
A |
2: 52,198,362 (GRCm39) |
R461* |
probably null |
Het |
Notch4 |
C |
A |
17: 34,789,159 (GRCm39) |
T486N |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,880,257 (GRCm39) |
E93G |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,219,358 (GRCm39) |
Y858C |
probably damaging |
Het |
Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
Or13a28 |
C |
T |
7: 140,218,297 (GRCm39) |
R228C |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,869 (GRCm39) |
L153* |
probably null |
Het |
Otud4 |
T |
A |
8: 80,366,597 (GRCm39) |
D21E |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,887,639 (GRCm39) |
|
probably null |
Het |
Pdia3 |
A |
T |
2: 121,244,620 (GRCm39) |
N11I |
possibly damaging |
Het |
Pex5 |
T |
C |
6: 124,380,079 (GRCm39) |
D286G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,607,136 (GRCm39) |
I133T |
probably damaging |
Het |
Postn |
A |
G |
3: 54,279,578 (GRCm39) |
D352G |
probably damaging |
Het |
Prl7c1 |
T |
C |
13: 27,962,065 (GRCm39) |
R81G |
probably benign |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rtraf |
T |
A |
14: 19,867,155 (GRCm39) |
N116I |
probably benign |
Het |
Semp2l2a |
T |
A |
8: 13,886,625 (GRCm39) |
R489W |
probably damaging |
Het |
Slc6a12 |
T |
A |
6: 121,328,951 (GRCm39) |
C50* |
probably null |
Het |
Spring1 |
G |
C |
5: 118,397,479 (GRCm39) |
A154P |
probably damaging |
Het |
Srcin1 |
T |
A |
11: 97,439,752 (GRCm39) |
H126L |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Uroc1 |
A |
T |
6: 90,332,310 (GRCm39) |
I556F |
probably damaging |
Het |
Vmn1r124 |
T |
A |
7: 20,994,302 (GRCm39) |
K81* |
probably null |
Het |
Vmn1r57 |
T |
A |
7: 5,223,972 (GRCm39) |
C166S |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r68 |
A |
G |
7: 84,883,673 (GRCm39) |
V144A |
probably benign |
Het |
Vmn2r85 |
C |
T |
10: 130,261,235 (GRCm39) |
M367I |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,468,536 (GRCm39) |
R2898H |
probably damaging |
Het |
|
Other mutations in Abcb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00570:Abcb4
|
APN |
5 |
9,000,073 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00663:Abcb4
|
APN |
5 |
8,977,916 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00671:Abcb4
|
APN |
5 |
8,980,745 (GRCm39) |
nonsense |
probably null |
|
IGL00822:Abcb4
|
APN |
5 |
9,000,046 (GRCm39) |
missense |
probably benign |
|
IGL01080:Abcb4
|
APN |
5 |
8,984,258 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01152:Abcb4
|
APN |
5 |
9,000,678 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01329:Abcb4
|
APN |
5 |
8,944,166 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01483:Abcb4
|
APN |
5 |
8,977,871 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01594:Abcb4
|
APN |
5 |
8,996,071 (GRCm39) |
splice site |
probably null |
|
IGL01785:Abcb4
|
APN |
5 |
8,965,058 (GRCm39) |
nonsense |
probably null |
|
IGL01968:Abcb4
|
APN |
5 |
8,977,913 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02579:Abcb4
|
APN |
5 |
9,005,537 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02654:Abcb4
|
APN |
5 |
8,977,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02658:Abcb4
|
APN |
5 |
8,984,240 (GRCm39) |
missense |
probably benign |
|
IGL03229:Abcb4
|
APN |
5 |
8,990,936 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03335:Abcb4
|
APN |
5 |
8,985,258 (GRCm39) |
missense |
probably benign |
0.00 |
FR4737:Abcb4
|
UTSW |
5 |
8,946,597 (GRCm39) |
small deletion |
probably benign |
|
P0014:Abcb4
|
UTSW |
5 |
9,000,083 (GRCm39) |
missense |
probably benign |
0.01 |
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R0102:Abcb4
|
UTSW |
5 |
8,959,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R0309:Abcb4
|
UTSW |
5 |
8,989,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0311:Abcb4
|
UTSW |
5 |
8,984,243 (GRCm39) |
missense |
probably benign |
|
R0420:Abcb4
|
UTSW |
5 |
8,991,050 (GRCm39) |
missense |
probably benign |
0.03 |
R0449:Abcb4
|
UTSW |
5 |
8,989,885 (GRCm39) |
nonsense |
probably null |
|
R0609:Abcb4
|
UTSW |
5 |
8,997,376 (GRCm39) |
missense |
probably damaging |
0.96 |
R1459:Abcb4
|
UTSW |
5 |
8,968,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R1470:Abcb4
|
UTSW |
5 |
8,990,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R1812:Abcb4
|
UTSW |
5 |
8,978,578 (GRCm39) |
critical splice donor site |
probably null |
|
R1944:Abcb4
|
UTSW |
5 |
8,980,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Abcb4
|
UTSW |
5 |
8,955,989 (GRCm39) |
missense |
probably benign |
0.01 |
R2256:Abcb4
|
UTSW |
5 |
9,008,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R3116:Abcb4
|
UTSW |
5 |
8,946,610 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4112:Abcb4
|
UTSW |
5 |
8,986,783 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4354:Abcb4
|
UTSW |
5 |
8,968,771 (GRCm39) |
missense |
probably benign |
0.44 |
R4512:Abcb4
|
UTSW |
5 |
8,978,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R4588:Abcb4
|
UTSW |
5 |
8,997,328 (GRCm39) |
missense |
probably benign |
0.01 |
R4708:Abcb4
|
UTSW |
5 |
8,965,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4714:Abcb4
|
UTSW |
5 |
8,980,906 (GRCm39) |
splice site |
probably null |
|
R4754:Abcb4
|
UTSW |
5 |
8,960,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4846:Abcb4
|
UTSW |
5 |
8,985,180 (GRCm39) |
missense |
probably benign |
|
R4896:Abcb4
|
UTSW |
5 |
8,957,267 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4944:Abcb4
|
UTSW |
5 |
8,984,327 (GRCm39) |
critical splice donor site |
probably null |
|
R4994:Abcb4
|
UTSW |
5 |
8,978,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Abcb4
|
UTSW |
5 |
8,959,054 (GRCm39) |
splice site |
probably null |
|
R5537:Abcb4
|
UTSW |
5 |
9,005,485 (GRCm39) |
missense |
probably damaging |
0.98 |
R5754:Abcb4
|
UTSW |
5 |
8,984,320 (GRCm39) |
missense |
probably benign |
|
R5833:Abcb4
|
UTSW |
5 |
9,008,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R5934:Abcb4
|
UTSW |
5 |
8,980,806 (GRCm39) |
missense |
probably benign |
0.18 |
R6006:Abcb4
|
UTSW |
5 |
8,996,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R6146:Abcb4
|
UTSW |
5 |
8,946,587 (GRCm39) |
missense |
probably benign |
0.05 |
R6183:Abcb4
|
UTSW |
5 |
8,968,718 (GRCm39) |
missense |
probably benign |
|
R6260:Abcb4
|
UTSW |
5 |
8,984,219 (GRCm39) |
nonsense |
probably null |
|
R6561:Abcb4
|
UTSW |
5 |
8,977,825 (GRCm39) |
missense |
probably benign |
0.14 |
R7016:Abcb4
|
UTSW |
5 |
8,986,843 (GRCm39) |
missense |
probably benign |
0.35 |
R7081:Abcb4
|
UTSW |
5 |
8,984,263 (GRCm39) |
missense |
probably benign |
|
R7326:Abcb4
|
UTSW |
5 |
8,984,226 (GRCm39) |
missense |
probably benign |
0.00 |
R7375:Abcb4
|
UTSW |
5 |
8,968,671 (GRCm39) |
missense |
probably benign |
|
R7787:Abcb4
|
UTSW |
5 |
8,959,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Abcb4
|
UTSW |
5 |
8,984,203 (GRCm39) |
missense |
probably benign |
|
R8128:Abcb4
|
UTSW |
5 |
9,008,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Abcb4
|
UTSW |
5 |
8,978,578 (GRCm39) |
critical splice donor site |
probably null |
|
R8438:Abcb4
|
UTSW |
5 |
8,996,120 (GRCm39) |
critical splice donor site |
probably null |
|
R8447:Abcb4
|
UTSW |
5 |
8,957,278 (GRCm39) |
missense |
probably damaging |
0.97 |
R8710:Abcb4
|
UTSW |
5 |
9,005,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
R8777-TAIL:Abcb4
|
UTSW |
5 |
8,989,894 (GRCm39) |
missense |
probably benign |
0.01 |
R8837:Abcb4
|
UTSW |
5 |
8,986,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R8987:Abcb4
|
UTSW |
5 |
8,977,931 (GRCm39) |
missense |
probably benign |
0.02 |
R9098:Abcb4
|
UTSW |
5 |
9,008,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R9167:Abcb4
|
UTSW |
5 |
8,986,849 (GRCm39) |
nonsense |
probably null |
|
R9210:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Abcb4
|
UTSW |
5 |
9,005,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9218:Abcb4
|
UTSW |
5 |
8,977,960 (GRCm39) |
missense |
probably benign |
0.20 |
R9242:Abcb4
|
UTSW |
5 |
8,949,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9376:Abcb4
|
UTSW |
5 |
9,008,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Abcb4
|
UTSW |
5 |
8,977,790 (GRCm39) |
missense |
probably damaging |
1.00 |
RF015:Abcb4
|
UTSW |
5 |
8,946,594 (GRCm39) |
frame shift |
probably null |
|
RF047:Abcb4
|
UTSW |
5 |
8,946,595 (GRCm39) |
frame shift |
probably null |
|
Z1176:Abcb4
|
UTSW |
5 |
9,009,005 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcb4
|
UTSW |
5 |
8,989,906 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTGTCTAGCTAGCATGTC -3'
(R):5'- ACATGTGGCATAAGCTATAGAGAC -3'
Sequencing Primer
(F):5'- AGTTCAAGGCAGTCCTGAGCTAC -3'
(R):5'- GTGGCATAAGCTATAGAGACTTCTAG -3'
|
Posted On |
2017-12-01 |