Incidental Mutation 'R2002:Abcb4'
| ID |
223168 |
| 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 |
040012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8955989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 98
(S98T)
|
| 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: S98T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: S98T
| 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: S98T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: S98T
| 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: ENSMUST00000197458
|
| Meta Mutation Damage Score |
0.1211 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.6%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548G14Rik |
T |
C |
15: 46,489,002 (GRCm39) |
|
noncoding transcript |
Het |
| Acan |
T |
C |
7: 78,750,541 (GRCm39) |
S1771P |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Ak2 |
T |
A |
4: 128,902,022 (GRCm39) |
S232T |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,657,564 (GRCm39) |
|
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,328,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,300 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,897,676 (GRCm39) |
V269A |
possibly damaging |
Het |
| Apba2 |
A |
T |
7: 64,383,290 (GRCm39) |
I368F |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,293,747 (GRCm39) |
M513V |
probably benign |
Het |
| Asb5 |
G |
A |
8: 55,036,655 (GRCm39) |
V116M |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,944,127 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp6v0c |
G |
T |
17: 24,383,835 (GRCm39) |
T40K |
probably damaging |
Het |
| Cdk2ap2 |
A |
G |
19: 4,147,903 (GRCm39) |
M57V |
possibly damaging |
Het |
| Cip2a |
T |
C |
16: 48,826,214 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,704 (GRCm39) |
N172S |
probably benign |
Het |
| Ddx55 |
T |
A |
5: 124,704,503 (GRCm39) |
V370E |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,831 (GRCm39) |
T48A |
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,911,052 (GRCm39) |
R4490W |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,326,425 (GRCm39) |
S929R |
unknown |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Fam209 |
C |
A |
2: 172,314,689 (GRCm39) |
N59K |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,931 (GRCm39) |
E106G |
probably benign |
Het |
| Frmd4a |
A |
C |
2: 4,577,176 (GRCm39) |
K344T |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,325,814 (GRCm39) |
E617G |
probably damaging |
Het |
| Gm5089 |
T |
A |
14: 122,673,686 (GRCm39) |
I12F |
unknown |
Het |
| Gm7052 |
T |
A |
17: 22,258,920 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 56,902,930 (GRCm39) |
N24I |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,243 (GRCm39) |
E1101G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
C |
14: 23,387,097 (GRCm39) |
S982A |
probably damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,885,328 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
A |
T |
9: 61,834,666 (GRCm39) |
C426* |
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,124,497 (GRCm39) |
A319S |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,920,342 (GRCm39) |
T7S |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mamdc4 |
A |
T |
2: 25,457,244 (GRCm39) |
W548R |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,850,609 (GRCm39) |
R88Q |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,737 (GRCm39) |
T158A |
probably benign |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,485,839 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,586 (GRCm39) |
H655L |
possibly damaging |
Het |
| Npas2 |
T |
C |
1: 39,377,276 (GRCm39) |
V546A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,299,089 (GRCm39) |
A400T |
probably damaging |
Het |
| Oog3 |
G |
T |
4: 143,884,675 (GRCm39) |
H420Q |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,865 (GRCm39) |
S78R |
possibly damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,744 (GRCm39) |
V316E |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,817 (GRCm39) |
H266R |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,958,557 (GRCm39) |
H177L |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,124,477 (GRCm39) |
I683V |
probably benign |
Het |
| Pea15a |
T |
C |
1: 172,026,252 (GRCm39) |
I90V |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,402 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
G |
7: 44,628,148 (GRCm39) |
V237A |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,027,833 (GRCm39) |
Y910* |
probably null |
Het |
| Rasal3 |
T |
A |
17: 32,612,585 (GRCm39) |
T757S |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,860,223 (GRCm39) |
|
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,506,544 (GRCm39) |
S17P |
probably benign |
Het |
| Scel |
G |
A |
14: 103,779,421 (GRCm39) |
V131M |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Snap29 |
T |
A |
16: 17,224,190 (GRCm39) |
Y68* |
probably null |
Het |
| Spdl1 |
T |
C |
11: 34,713,473 (GRCm39) |
T199A |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,449,828 (GRCm39) |
N14D |
probably benign |
Het |
| Ston1 |
G |
A |
17: 88,942,957 (GRCm39) |
G121D |
probably benign |
Het |
| Syt16 |
G |
A |
12: 74,281,977 (GRCm39) |
G367E |
possibly damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,710 (GRCm39) |
T25A |
possibly damaging |
Het |
| Tmem182 |
T |
A |
1: 40,845,355 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,687,627 (GRCm39) |
|
probably benign |
Het |
| Trp73 |
T |
C |
4: 154,165,902 (GRCm39) |
T56A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,959,947 (GRCm39) |
K1194R |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,830,935 (GRCm39) |
|
probably null |
Het |
| Ube4b |
T |
C |
4: 149,468,254 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,798 (GRCm39) |
N77K |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,318 (GRCm39) |
R85Q |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,739,514 (GRCm39) |
|
probably null |
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 |
|
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'- CCGACACACTTGCAACTGTG -3'
(R):5'- AAGCAACTTTCTTGAAACTGGG -3'
Sequencing Primer
(F):5'- GTGTTTCAGTGAACTTAAAAGTACCC -3'
(R):5'- CAACTTTCTTGAAACTGGGGGCTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation