Incidental Mutation 'R8777:Abcb4'
ID |
664731 |
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 |
068720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8777 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8989894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 816
(T816S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
AlphaFold |
P21440 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003717
AA Change: T816S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476 AA Change: T816S
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: T816S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000142425 Gene: ENSMUSG00000042476 AA Change: T816S
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
G |
A |
11: 53,290,783 (GRCm39) |
S581N |
probably damaging |
Het |
Aimp2 |
G |
A |
5: 143,839,825 (GRCm39) |
A253V |
probably damaging |
Het |
Arl6ip4 |
T |
G |
5: 124,254,611 (GRCm39) |
S35A |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,059,869 (GRCm39) |
Y787N |
probably damaging |
Het |
Btbd8 |
T |
G |
5: 107,658,293 (GRCm39) |
I1621R |
probably damaging |
Het |
Ccdc169 |
T |
C |
3: 55,058,334 (GRCm39) |
S13P |
probably damaging |
Het |
Ccdc186 |
G |
A |
19: 56,801,793 (GRCm39) |
S108F |
probably damaging |
Het |
Ccdc39 |
G |
A |
3: 33,893,282 (GRCm39) |
T101I |
probably benign |
Het |
Cdh13 |
G |
T |
8: 119,963,706 (GRCm39) |
|
probably null |
Het |
Clec1b |
A |
T |
6: 129,380,537 (GRCm39) |
E151V |
probably benign |
Het |
Cplx1 |
T |
A |
5: 108,673,435 (GRCm39) |
|
probably null |
Het |
Diablo |
T |
A |
5: 123,655,990 (GRCm39) |
I150F |
unknown |
Het |
Esp31 |
T |
C |
17: 38,955,582 (GRCm39) |
V75A |
probably benign |
Het |
Gm49336 |
G |
A |
14: 60,466,185 (GRCm39) |
L458F |
probably damaging |
Het |
Grin3b |
A |
T |
10: 79,808,972 (GRCm39) |
S241C |
possibly damaging |
Het |
Gxylt2 |
A |
G |
6: 100,727,432 (GRCm39) |
N182S |
probably damaging |
Het |
Hephl1 |
T |
G |
9: 14,972,090 (GRCm39) |
D950A |
probably benign |
Het |
Hkdc1 |
A |
G |
10: 62,234,612 (GRCm39) |
I556T |
possibly damaging |
Het |
Ints4 |
C |
A |
7: 97,134,227 (GRCm39) |
A53D |
probably damaging |
Het |
Kmt5c |
T |
C |
7: 4,745,712 (GRCm39) |
V124A |
possibly damaging |
Het |
Lrpprc |
T |
A |
17: 85,058,657 (GRCm39) |
Q734H |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,304 (GRCm39) |
T1806A |
unknown |
Het |
Mcmbp |
A |
T |
7: 128,308,855 (GRCm39) |
F389I |
probably damaging |
Het |
Mcrs1 |
C |
T |
15: 99,141,237 (GRCm39) |
G422S |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,632,185 (GRCm39) |
H173R |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,747,422 (GRCm39) |
G200S |
probably benign |
Het |
Myh13 |
A |
T |
11: 67,252,161 (GRCm39) |
Q1423L |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,083,398 (GRCm39) |
R1454G |
possibly damaging |
Het |
Mylk4 |
C |
T |
13: 32,913,089 (GRCm39) |
V70I |
probably benign |
Het |
Myof |
A |
G |
19: 37,968,841 (GRCm39) |
V358A |
probably benign |
Het |
Ncor1 |
T |
A |
11: 62,324,492 (GRCm39) |
I48F |
probably benign |
Het |
Ncor1 |
T |
A |
11: 62,324,494 (GRCm39) |
H47L |
probably damaging |
Het |
Neurog2 |
G |
T |
3: 127,427,742 (GRCm39) |
R122L |
probably damaging |
Het |
Npdc1 |
T |
A |
2: 25,298,129 (GRCm39) |
L193Q |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,227,234 (GRCm39) |
N290D |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,109,120 (GRCm39) |
M1409T |
probably benign |
Het |
Oas1h |
T |
C |
5: 121,005,107 (GRCm39) |
L185P |
probably damaging |
Het |
Or10x4 |
A |
T |
1: 174,218,848 (GRCm39) |
Y71F |
probably damaging |
Het |
Or2z2 |
C |
T |
11: 58,346,757 (GRCm39) |
W6* |
probably null |
Het |
Or6c3 |
T |
A |
10: 129,309,374 (GRCm39) |
V271E |
possibly damaging |
Het |
Osbpl8 |
T |
A |
10: 111,128,974 (GRCm39) |
N853K |
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,159,557 (GRCm39) |
P405Q |
probably benign |
Het |
Piwil4 |
A |
C |
9: 14,650,685 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
T |
C |
15: 44,361,967 (GRCm39) |
Y547H |
probably damaging |
Het |
Pramel40 |
A |
G |
5: 94,465,027 (GRCm39) |
D471G |
probably benign |
Het |
Rft1 |
T |
C |
14: 30,382,156 (GRCm39) |
L51P |
probably damaging |
Het |
Rufy2 |
T |
G |
10: 62,833,660 (GRCm39) |
L241V |
possibly damaging |
Het |
Slc5a5 |
T |
C |
8: 71,343,934 (GRCm39) |
I155V |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,351,991 (GRCm39) |
M18R |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,259,375 (GRCm39) |
S592P |
probably benign |
Het |
Strn4 |
T |
C |
7: 16,550,533 (GRCm39) |
W86R |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,545,244 (GRCm39) |
N2457S |
probably damaging |
Het |
Tent4a |
T |
A |
13: 69,658,824 (GRCm39) |
D337V |
probably damaging |
Het |
Timd4 |
C |
A |
11: 46,706,309 (GRCm39) |
T37N |
possibly damaging |
Het |
Tmem268 |
T |
A |
4: 63,496,076 (GRCm39) |
N172K |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,773,949 (GRCm39) |
V2855D |
probably benign |
Het |
Tubb6 |
A |
T |
18: 67,534,598 (GRCm39) |
T166S |
probably damaging |
Het |
Tufm |
A |
G |
7: 126,088,034 (GRCm39) |
Y179C |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,933,597 (GRCm39) |
N1302D |
probably benign |
Het |
Ube2r2 |
C |
T |
4: 41,190,715 (GRCm39) |
S203L |
possibly damaging |
Het |
Vldlr |
G |
T |
19: 27,217,946 (GRCm39) |
V465L |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r42 |
A |
G |
7: 8,195,692 (GRCm39) |
F485L |
probably benign |
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 |
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-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'- TCCAATACCCACAGTCAGTTTAG -3'
(R):5'- GTTCAAGTCCGCTTCAGCTG -3'
Sequencing Primer
(F):5'- ACCCACAGTCAGTTTAGATATCTC -3'
(R):5'- TGCAAAACTGTTTTTAGGGCC -3'
|
Posted On |
2021-03-08 |