Incidental Mutation 'R4714:Abcb4'
| ID |
397191 |
| 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 |
041956-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 8980906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000003717]
[ENSMUST00000196067]
[ENSMUST00000196067]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003717
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
| 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 null
Transcript: ENSMUST00000003717
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
| 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 null
Transcript: ENSMUST00000196067
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
| 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 |
probably null
Transcript: ENSMUST00000196067
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
| 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: ENSMUST00000199954
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930486L24Rik |
A |
G |
13: 60,992,132 (GRCm39) |
V298A |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,360,609 (GRCm39) |
V534A |
probably benign |
Het |
| Adam30 |
A |
T |
3: 98,070,170 (GRCm39) |
S668C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,556,252 (GRCm39) |
V196D |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,888,543 (GRCm39) |
V738I |
probably benign |
Het |
| Cast |
C |
T |
13: 74,946,834 (GRCm39) |
V27I |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,651,780 (GRCm39) |
I3090T |
probably benign |
Het |
| Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,063 (GRCm39) |
Y74H |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,511,890 (GRCm39) |
I278T |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,845 (GRCm39) |
T141A |
probably benign |
Het |
| Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
| Defb8 |
A |
G |
8: 19,497,575 (GRCm39) |
L12P |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,609,079 (GRCm39) |
I225F |
probably damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,118,932 (GRCm39) |
H2178N |
possibly damaging |
Het |
| Enam |
A |
G |
5: 88,651,395 (GRCm39) |
E893G |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,518,034 (GRCm39) |
L358Q |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,785 (GRCm39) |
Q1202R |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,349,879 (GRCm39) |
D433V |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,057,383 (GRCm39) |
D328N |
possibly damaging |
Het |
| Haus4 |
T |
C |
14: 54,779,577 (GRCm39) |
D349G |
probably benign |
Het |
| Helz |
T |
C |
11: 107,517,542 (GRCm39) |
|
probably null |
Het |
| Hif3a |
A |
G |
7: 16,790,196 (GRCm39) |
L69P |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,563 (GRCm39) |
E233G |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,733 (GRCm39) |
F307S |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,000,771 (GRCm39) |
V2151E |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,454 (GRCm39) |
N92S |
probably damaging |
Het |
| Metrnl |
C |
T |
11: 121,606,839 (GRCm39) |
A216V |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,026,217 (GRCm39) |
T732A |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,194,334 (GRCm39) |
L270P |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,804,157 (GRCm39) |
K74E |
probably benign |
Het |
| Oas2 |
A |
T |
5: 120,871,537 (GRCm39) |
L702Q |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,703,047 (GRCm39) |
I19N |
probably benign |
Het |
| Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,436 (GRCm39) |
I220T |
possibly damaging |
Het |
| Or4k6 |
C |
A |
14: 50,475,824 (GRCm39) |
V173L |
possibly damaging |
Het |
| Or6c216 |
A |
T |
10: 129,678,814 (GRCm39) |
N32K |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,525,745 (GRCm39) |
H376R |
possibly damaging |
Het |
| Pnkd |
C |
T |
1: 74,390,941 (GRCm39) |
R376C |
probably damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,342,696 (GRCm39) |
F484S |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,573 (GRCm39) |
H909Q |
probably benign |
Het |
| Rasip1 |
CGG |
CGGG |
7: 45,281,820 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
T |
5: 66,182,395 (GRCm39) |
Y413N |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,929,638 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,461,412 (GRCm39) |
M259K |
possibly damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,097,950 (GRCm39) |
H134R |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,248,330 (GRCm39) |
D447G |
possibly damaging |
Het |
| Tank |
C |
T |
2: 61,480,573 (GRCm39) |
P370S |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,544,131 (GRCm39) |
E2049G |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,226 (GRCm39) |
H426R |
possibly damaging |
Het |
| Trpm6 |
C |
A |
19: 18,831,564 (GRCm39) |
S1476R |
possibly damaging |
Het |
| Trpm7 |
G |
A |
2: 126,682,703 (GRCm39) |
Q389* |
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,433,095 (GRCm39) |
R2043Q |
possibly damaging |
Het |
| Tymp |
A |
G |
15: 89,260,510 (GRCm39) |
S103P |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,894,901 (GRCm39) |
|
probably null |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,977 (GRCm39) |
N147Y |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,688 (GRCm39) |
S64P |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,727,220 (GRCm39) |
D229E |
probably benign |
Het |
| Vps52 |
A |
G |
17: 34,180,153 (GRCm39) |
I354V |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,235,557 (GRCm39) |
F90L |
probably damaging |
Het |
| Zfp36l1 |
T |
C |
12: 80,157,270 (GRCm39) |
D37G |
possibly damaging |
Het |
| Zfp467 |
A |
G |
6: 48,404,751 (GRCm39) |
S109P |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,728,038 (GRCm39) |
C535S |
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 |
|
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 |
|
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'- TTCCTCTTTAGGCCAGAGAAGG -3'
(R):5'- TGGACACATTCCCTAGACAATC -3'
Sequencing Primer
(F):5'- GGCCGAACCACCATTGTGATAG -3'
(R):5'- GACACATTCCCTAGACAATCTTATTG -3'
|
| Posted On |
2016-06-28 |
Incidental Mutation