Incidental Mutation 'R0420:Abcb4'
| ID |
36971 |
| 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 |
038622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0420 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8991050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 870
(V870A)
|
| 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: V870A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: V870A
| 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: V870A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: V870A
| 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 |
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,453,614 (GRCm39) |
M144L |
probably benign |
Het |
| Adrb2 |
T |
A |
18: 62,312,610 (GRCm39) |
I72L |
possibly damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,740,674 (GRCm39) |
H99L |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,891,280 (GRCm39) |
T17M |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,705 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,680,052 (GRCm39) |
G884E |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,826 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,011,193 (GRCm39) |
T971K |
probably damaging |
Het |
| BC048562 |
A |
T |
9: 108,323,165 (GRCm39) |
T167S |
probably benign |
Het |
| Brd9 |
A |
G |
13: 74,103,592 (GRCm39) |
M491V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,814,277 (GRCm39) |
D319V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,491,800 (GRCm38) |
R783S |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,581 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,782 (GRCm39) |
D107V |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,946,964 (GRCm39) |
E213G |
possibly damaging |
Het |
| Cyp2c37 |
A |
C |
19: 39,984,238 (GRCm39) |
N242T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,765 (GRCm39) |
V3750A |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,836 (GRCm39) |
I231L |
probably benign |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,031,861 (GRCm39) |
N254S |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,940 (GRCm39) |
L108P |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,281 (GRCm39) |
M145K |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,357,654 (GRCm39) |
N23S |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,412,047 (GRCm39) |
|
probably benign |
Het |
| Gm6434 |
T |
A |
7: 25,581,786 (GRCm39) |
|
noncoding transcript |
Het |
| Grik4 |
A |
T |
9: 42,533,392 (GRCm39) |
L376* |
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,203,090 (GRCm39) |
L51F |
probably damaging |
Het |
| Gzf1 |
A |
G |
2: 148,525,753 (GRCm39) |
T75A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,111,911 (GRCm39) |
I625T |
unknown |
Het |
| Hhat |
C |
T |
1: 192,235,242 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,914 (GRCm39) |
E181G |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,257 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
C |
11: 120,606,045 (GRCm39) |
S118R |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Ms4a5 |
A |
G |
19: 11,261,018 (GRCm39) |
L47S |
probably damaging |
Het |
| Mynn |
A |
T |
3: 30,661,608 (GRCm39) |
N230I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,593,278 (GRCm39) |
S162P |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,094,093 (GRCm39) |
F259S |
probably damaging |
Het |
| Obox1 |
T |
G |
7: 15,290,178 (GRCm39) |
S174A |
possibly damaging |
Het |
| Ociad1 |
T |
A |
5: 73,470,772 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
T |
13: 21,607,336 (GRCm39) |
V286E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,666,567 (GRCm39) |
V1032A |
probably damaging |
Het |
| Ppm1e |
C |
T |
11: 87,131,440 (GRCm39) |
A318T |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,431,491 (GRCm39) |
D757V |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,742,595 (GRCm39) |
|
probably null |
Het |
| Rbbp5 |
T |
G |
1: 132,421,582 (GRCm39) |
I94R |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,415,518 (GRCm39) |
V173A |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,625 (GRCm39) |
N700K |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,931,203 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,175 (GRCm39) |
H188L |
probably damaging |
Het |
| Spmip11 |
A |
G |
15: 98,468,975 (GRCm39) |
S17G |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,016,754 (GRCm39) |
|
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,490 (GRCm39) |
S819P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,097,951 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,522,973 (GRCm39) |
V1468A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,553,193 (GRCm39) |
N83S |
probably benign |
Het |
| Tle6 |
T |
C |
10: 81,431,145 (GRCm39) |
|
probably benign |
Het |
| Tm2d2 |
T |
G |
8: 25,508,130 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 127,941,710 (GRCm39) |
Q463H |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,153,102 (GRCm39) |
S324P |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,918,396 (GRCm39) |
T1172A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,746 (GRCm39) |
C393S |
probably benign |
Het |
| Usp42 |
G |
A |
5: 143,700,616 (GRCm39) |
L1136F |
probably damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,389,183 (GRCm39) |
M499R |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,261,071 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,450,300 (GRCm39) |
R1076H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,118,039 (GRCm39) |
M917K |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,433,929 (GRCm39) |
V281A |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,856,747 (GRCm39) |
D609G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,315,163 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,236 (GRCm39) |
K202E |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGGCTTTAGGAGTGACTCAGC -3'
(R):5'- CCACCTGGTGGGGCTAACTTTAAC -3'
Sequencing Primer
(F):5'- AGCTGCCTTATTCTGTTTCTCTTG -3'
(R):5'- CTGTCTGGAAGCTAGAAATGTCAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation