Incidental Mutation 'R9376:Abcb4'
| ID |
709611 |
| 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 # |
R9376 (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 9008988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1215
(D1215V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003717
AA Change: D1215V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: D1215V
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,438 (GRCm39) |
L1296H |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,025 (GRCm39) |
I244L |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,332,250 (GRCm39) |
V58D |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,496,782 (GRCm39) |
L789S |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,863,290 (GRCm39) |
V129A |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,410 (GRCm39) |
S193P |
possibly damaging |
Het |
| Clpb |
A |
T |
7: 101,360,625 (GRCm39) |
R218S |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,875,258 (GRCm39) |
S231G |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,639,591 (GRCm39) |
Y574H |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,709,523 (GRCm39) |
R2498H |
unknown |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,594 (GRCm39) |
V108A |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,178 (GRCm39) |
N217K |
probably damaging |
Het |
| Dao |
T |
A |
5: 114,147,901 (GRCm39) |
M1K |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,414,981 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
T |
9: 64,819,974 (GRCm39) |
I1809L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,568,058 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,086,720 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,080,719 (GRCm39) |
S267P |
probably damaging |
Het |
| Gm17732 |
G |
T |
18: 62,795,936 (GRCm39) |
V41L |
probably damaging |
Het |
| Gpaa1 |
C |
A |
15: 76,218,826 (GRCm39) |
T556K |
possibly damaging |
Het |
| Gpr65 |
T |
A |
12: 98,241,523 (GRCm39) |
S59T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,124,695 (GRCm39) |
V568A |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,221 (GRCm39) |
D144G |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,107,112 (GRCm39) |
H993R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,935 (GRCm39) |
L1075P |
possibly damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,638 (GRCm39) |
V120E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,970,718 (GRCm39) |
S1762P |
probably damaging |
Het |
| Krt80 |
T |
A |
15: 101,247,978 (GRCm39) |
T221S |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,994,620 (GRCm39) |
D1763G |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,670,286 (GRCm39) |
D606G |
probably benign |
Het |
| Map6d1 |
T |
C |
16: 20,059,933 (GRCm39) |
D44G |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,072,372 (GRCm39) |
I282K |
probably benign |
Het |
| Nalcn |
G |
A |
14: 123,515,713 (GRCm39) |
T1696M |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,924,244 (GRCm39) |
V1591A |
probably benign |
Het |
| Oas1f |
C |
A |
5: 120,986,243 (GRCm39) |
Y65* |
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,662 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,683 (GRCm39) |
T163S |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,746,971 (GRCm39) |
T8S |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,471 (GRCm39) |
I102K |
possibly damaging |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Pigyl |
A |
G |
9: 22,069,324 (GRCm39) |
I12V |
probably benign |
Het |
| Pno1 |
A |
T |
11: 17,158,791 (GRCm39) |
D202E |
probably benign |
Het |
| Ppp5c |
A |
T |
7: 16,743,849 (GRCm39) |
M195K |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,598 (GRCm39) |
F1905Y |
possibly damaging |
Het |
| Ptpn11 |
C |
A |
5: 121,282,681 (GRCm39) |
D435Y |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,164 (GRCm39) |
Y140C |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,225 (GRCm39) |
E339G |
possibly damaging |
Het |
| Scube3 |
G |
T |
17: 28,383,670 (GRCm39) |
K480N |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,910,469 (GRCm39) |
M313K |
probably benign |
Het |
| Tcaim |
T |
C |
9: 122,655,995 (GRCm39) |
W304R |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,514 (GRCm39) |
T134I |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,744,528 (GRCm39) |
T282A |
probably benign |
Het |
| Tnfrsf18 |
G |
T |
4: 156,112,448 (GRCm39) |
A102S |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Triqk |
A |
G |
4: 12,962,987 (GRCm39) |
T9A |
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,013 (GRCm39) |
S203N |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,561,128 (GRCm39) |
V573I |
unknown |
Het |
| Zfhx4 |
A |
G |
3: 5,306,833 (GRCm39) |
K20E |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,395 (GRCm39) |
D1876G |
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 |
|
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 |
|
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'- GGAAGCCCATCTGTATCATAATTAC -3'
(R):5'- GGCCTGGATGTTGACCATTG -3'
Sequencing Primer
(F):5'- GGCACAATGGTAGCCATGTAAACTAC -3'
(R):5'- TGAGAAATAGATGCCCTTCTGCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation