Incidental Mutation 'R0102:Abcb4'
ID |
17148 |
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 |
038388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0102 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8959194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 207
(F207S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
AlphaFold |
P21440 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003717
AA Change: F207S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476 AA Change: F207S
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 damaging
Transcript: ENSMUST00000196067
AA Change: F207S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142425 Gene: ENSMUSG00000042476 AA Change: F207S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199413
|
Meta Mutation Damage Score |
0.8447 |
Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.2%
- 10x: 73.9%
- 20x: 53.9%
|
Validation Efficiency |
97% (84/87) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,874 (GRCm39) |
K1021R |
probably damaging |
Het |
2610528J11Rik |
G |
A |
4: 118,386,762 (GRCm39) |
V36M |
probably damaging |
Het |
4930402F06Rik |
T |
A |
2: 35,265,795 (GRCm39) |
R292* |
probably null |
Het |
Adcy4 |
A |
C |
14: 56,008,990 (GRCm39) |
N812K |
probably benign |
Het |
Afap1l2 |
G |
T |
19: 56,916,872 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
A |
T |
2: 166,687,385 (GRCm39) |
H203L |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,974,612 (GRCm39) |
P2234L |
probably benign |
Het |
Cfi |
A |
C |
3: 129,642,416 (GRCm39) |
H90P |
probably damaging |
Het |
Cyp2d10 |
C |
T |
15: 82,288,794 (GRCm39) |
M229I |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,245,897 (GRCm39) |
|
probably benign |
Het |
Dnttip2 |
G |
T |
3: 122,069,452 (GRCm39) |
M222I |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,154,757 (GRCm39) |
Y284N |
probably benign |
Het |
Ebf1 |
T |
C |
11: 44,882,282 (GRCm39) |
Y413H |
probably benign |
Het |
Exog |
A |
G |
9: 119,281,319 (GRCm39) |
T186A |
possibly damaging |
Het |
Fam171a2 |
T |
C |
11: 102,334,939 (GRCm39) |
N66S |
possibly damaging |
Het |
Gprc5a |
A |
T |
6: 135,056,033 (GRCm39) |
N160I |
probably damaging |
Het |
Haus3 |
A |
G |
5: 34,323,258 (GRCm39) |
|
probably null |
Het |
Klhl20 |
A |
T |
1: 160,918,015 (GRCm39) |
C90* |
probably null |
Het |
Krt84 |
T |
A |
15: 101,437,138 (GRCm39) |
I342L |
probably damaging |
Het |
Lifr |
G |
A |
15: 7,208,373 (GRCm39) |
D584N |
probably damaging |
Het |
Lmbrd2 |
G |
A |
15: 9,184,039 (GRCm39) |
R551K |
probably damaging |
Het |
Lrtm1 |
T |
A |
14: 28,744,184 (GRCm39) |
|
probably benign |
Het |
Mat1a |
T |
A |
14: 40,842,187 (GRCm39) |
|
probably benign |
Het |
Mest |
A |
G |
6: 30,746,269 (GRCm39) |
I279V |
probably damaging |
Het |
Mroh5 |
A |
T |
15: 73,691,199 (GRCm39) |
D155E |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,573,632 (GRCm39) |
D787G |
possibly damaging |
Het |
Naaladl1 |
C |
T |
19: 6,162,534 (GRCm39) |
P465S |
probably damaging |
Het |
Necab3 |
G |
A |
2: 154,387,232 (GRCm39) |
R302C |
probably damaging |
Het |
Nsg1 |
A |
T |
5: 38,316,254 (GRCm39) |
D32E |
probably damaging |
Het |
Ntrk2 |
T |
C |
13: 58,956,607 (GRCm39) |
V22A |
probably benign |
Het |
Nuggc |
A |
G |
14: 65,851,000 (GRCm39) |
D290G |
probably null |
Het |
Nup205 |
A |
T |
6: 35,202,715 (GRCm39) |
|
probably benign |
Het |
Or2t35 |
C |
T |
14: 14,407,876 (GRCm38) |
S218F |
probably damaging |
Het |
Or4f57 |
G |
C |
2: 111,790,942 (GRCm39) |
Q159E |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,447,375 (GRCm39) |
S9T |
probably benign |
Het |
Phip |
A |
T |
9: 82,787,845 (GRCm39) |
|
probably null |
Het |
Pitpnm3 |
C |
T |
11: 71,947,072 (GRCm39) |
V776M |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,289,091 (GRCm39) |
|
probably benign |
Het |
Ppp1r12b |
T |
A |
1: 134,763,637 (GRCm39) |
|
probably null |
Het |
Ppp1r15b |
A |
G |
1: 133,060,908 (GRCm39) |
N475S |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,429,082 (GRCm39) |
D535G |
probably benign |
Het |
Prrt3 |
A |
T |
6: 113,474,790 (GRCm39) |
L144H |
probably damaging |
Het |
Psmb7 |
A |
G |
2: 38,533,377 (GRCm39) |
V50A |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,442,017 (GRCm39) |
S1354R |
probably damaging |
Het |
Sdcbp2 |
A |
G |
2: 151,425,884 (GRCm39) |
T29A |
probably benign |
Het |
Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,794,452 (GRCm39) |
I447T |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,119,390 (GRCm39) |
K4540M |
probably damaging |
Het |
Spata31h2 |
T |
A |
5: 23,542,489 (GRCm39) |
|
noncoding transcript |
Het |
Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,796,751 (GRCm39) |
F260L |
probably damaging |
Het |
Trgv4 |
T |
G |
13: 19,369,370 (GRCm39) |
F38C |
possibly damaging |
Het |
Trim10 |
C |
A |
17: 37,181,074 (GRCm39) |
H102N |
probably damaging |
Het |
Ube2u |
A |
G |
4: 100,407,122 (GRCm39) |
T215A |
possibly damaging |
Het |
Vcan |
T |
G |
13: 89,851,787 (GRCm39) |
T1058P |
probably benign |
Het |
Vwa3b |
A |
C |
1: 37,174,595 (GRCm39) |
E670A |
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 |
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 |
R4628:Abcb4
|
UTSW |
5 |
8,957,399 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
|
|
Posted On |
2013-01-20 |