Incidental Mutation 'R9212:Abcb4'
| ID |
698929 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9005591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1158
(P1158L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003717
AA Change: P1158L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: P1158L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,767 (GRCm39) |
D790G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,565 (GRCm39) |
D521G |
probably benign |
Het |
| Adhfe1 |
A |
T |
1: 9,637,036 (GRCm39) |
D396V |
possibly damaging |
Het |
| Arhgap28 |
A |
G |
17: 68,162,430 (GRCm39) |
M639T |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,880,447 (GRCm39) |
T453A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,655,389 (GRCm39) |
I1133T |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,028 (GRCm39) |
R8H |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,398 (GRCm39) |
I375V |
unknown |
Het |
| Cdh24 |
T |
A |
14: 54,878,679 (GRCm39) |
|
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,436,649 (GRCm39) |
I916F |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,959,567 (GRCm39) |
T861I |
probably benign |
Het |
| Chd1 |
T |
G |
17: 15,950,767 (GRCm39) |
S153A |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,013,952 (GRCm39) |
I222F |
possibly damaging |
Het |
| Clip1 |
T |
A |
5: 123,721,399 (GRCm39) |
K1165N |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,757,973 (GRCm39) |
H244R |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,500,555 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
G |
17: 80,576,338 (GRCm39) |
D584A |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,628,852 (GRCm39) |
V4123M |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,597,481 (GRCm39) |
V94A |
probably benign |
Het |
| Fzd6 |
A |
G |
15: 38,898,289 (GRCm39) |
H543R |
probably damaging |
Het |
| Gad2 |
T |
A |
2: 22,571,399 (GRCm39) |
C446S |
probably damaging |
Het |
| Gm29106 |
A |
G |
1: 118,127,270 (GRCm39) |
R321G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,803,730 (GRCm39) |
V1447A |
probably benign |
Het |
| Hus1b |
A |
C |
13: 31,130,858 (GRCm39) |
I267S |
possibly damaging |
Het |
| Kifap3 |
C |
T |
1: 163,610,600 (GRCm39) |
L27F |
probably damaging |
Het |
| Lancl2 |
A |
C |
6: 57,714,673 (GRCm39) |
I431L |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,839,824 (GRCm39) |
P1069S |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,392 (GRCm39) |
V111D |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,015,846 (GRCm39) |
N16I |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,129,047 (GRCm39) |
A379E |
probably damaging |
Het |
| Nppc |
G |
T |
1: 86,597,619 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Or2a51 |
T |
A |
6: 43,178,756 (GRCm39) |
Y59* |
probably null |
Het |
| Or5p54 |
C |
A |
7: 107,554,017 (GRCm39) |
H56Q |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,515,695 (GRCm39) |
L271P |
probably damaging |
Het |
| Papolg |
T |
C |
11: 23,823,817 (GRCm39) |
T334A |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,291,719 (GRCm39) |
S1313P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,063,175 (GRCm39) |
T154A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,493 (GRCm39) |
M2254V |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,377,152 (GRCm39) |
V328A |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,761,785 (GRCm39) |
V1616A |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,086,005 (GRCm39) |
H477L |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,064,286 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
C |
13: 11,844,560 (GRCm39) |
I392S |
probably damaging |
Het |
| Sbsn |
A |
G |
7: 30,452,427 (GRCm39) |
N481D |
probably benign |
Het |
| Sf3a3 |
G |
A |
4: 124,621,921 (GRCm39) |
E354K |
possibly damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,602,053 (GRCm39) |
Y81* |
probably null |
Het |
| Slc5a2 |
C |
A |
7: 127,867,939 (GRCm39) |
Q202K |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,118,979 (GRCm39) |
N4677S |
possibly damaging |
Het |
| Stxbp2 |
G |
C |
8: 3,686,220 (GRCm39) |
K313N |
|
Het |
| Tbc1d2b |
A |
T |
9: 90,087,183 (GRCm39) |
L932Q |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,691,200 (GRCm39) |
V446A |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,993,557 (GRCm39) |
R333Q |
probably damaging |
Het |
| Wdr24 |
T |
C |
17: 26,043,472 (GRCm39) |
V98A |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,942,563 (GRCm39) |
S1015L |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,789 (GRCm39) |
*975W |
probably null |
Het |
| Zfp317 |
A |
T |
9: 19,558,442 (GRCm39) |
K219* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,610,052 (GRCm39) |
S558P |
possibly damaging |
Het |
| Zfp986 |
A |
G |
4: 145,625,798 (GRCm39) |
K153E |
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: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 |
|
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'- AAGCAAAGAAACTCAATGTCCAGTG -3'
(R):5'- AACACTAGTGTGAGACCTGGG -3'
Sequencing Primer
(F):5'- AACTCAATGTCCAGTGGCTCCG -3'
(R):5'- GCCTCATTGGTGTCTCATGGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation