Incidental Mutation 'R5934:Abcb4'
| ID |
462089 |
| 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 |
044128-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5934 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8980806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 596
(V596A)
|
| 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: V596A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: V596A
| 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: V596A
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: V596A
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,194,682 (GRCm39) |
T370M |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,717,678 (GRCm39) |
T118A |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,084,940 (GRCm39) |
A379V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,299 (GRCm39) |
|
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,266 (GRCm39) |
D66E |
probably benign |
Het |
| Cdh5 |
T |
A |
8: 104,864,900 (GRCm39) |
V506E |
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Ckb |
A |
T |
12: 111,636,663 (GRCm39) |
V237D |
probably damaging |
Het |
| Col6a6 |
C |
T |
9: 105,644,274 (GRCm39) |
D1306N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,140 (GRCm39) |
S19P |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,931,928 (GRCm39) |
D3681E |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,495 (GRCm39) |
Y2068* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,248,060 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,817,092 (GRCm39) |
C4275Y |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,664 (GRCm39) |
V202A |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,897,367 (GRCm39) |
I250M |
possibly damaging |
Het |
| Gpr88 |
C |
T |
3: 116,045,958 (GRCm39) |
G118R |
probably damaging |
Het |
| Hdhd3 |
C |
A |
4: 62,417,607 (GRCm39) |
V190L |
possibly damaging |
Het |
| Heg1 |
C |
T |
16: 33,547,289 (GRCm39) |
T461M |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,246,083 (GRCm39) |
Y989C |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,520,971 (GRCm39) |
M175L |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,414 (GRCm39) |
R101Q |
possibly damaging |
Het |
| Kif20b |
G |
T |
19: 34,918,721 (GRCm39) |
V702F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,360,651 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,618,249 (GRCm39) |
V916A |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,655 (GRCm39) |
C137S |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,160,535 (GRCm39) |
D589E |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,979,017 (GRCm39) |
C464R |
probably damaging |
Het |
| Mucl2 |
A |
T |
15: 103,927,832 (GRCm39) |
S42T |
probably benign |
Het |
| Musk |
T |
A |
4: 58,373,613 (GRCm39) |
L838Q |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,510 (GRCm39) |
H1052R |
probably damaging |
Het |
| Or10d4b |
C |
T |
9: 39,534,479 (GRCm39) |
T20I |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,874,293 (GRCm39) |
R303G |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,280 (GRCm39) |
I234N |
probably benign |
Het |
| Or2at1 |
A |
T |
7: 99,416,596 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4d2 |
T |
C |
11: 87,784,049 (GRCm39) |
R234G |
possibly damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,385 (GRCm39) |
C242F |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,867 (GRCm39) |
S211F |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
| Or8u8 |
T |
A |
2: 86,012,446 (GRCm39) |
Q3L |
probably benign |
Het |
| Pard3 |
T |
G |
8: 128,115,819 (GRCm39) |
L636R |
probably damaging |
Het |
| Pigr |
A |
T |
1: 130,772,264 (GRCm39) |
S161C |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,369 (GRCm39) |
S325P |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,060 (GRCm39) |
V1992E |
probably damaging |
Het |
| Psma5-ps |
T |
C |
10: 85,150,145 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,845 (GRCm39) |
K468E |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,503,297 (GRCm39) |
T37A |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,575,245 (GRCm39) |
K571I |
probably damaging |
Het |
| Reck |
G |
A |
4: 43,930,979 (GRCm39) |
G660D |
probably damaging |
Het |
| Rgs4 |
T |
C |
1: 169,572,807 (GRCm39) |
D43G |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,599,040 (GRCm39) |
D4645E |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,550,102 (GRCm39) |
S639P |
probably damaging |
Het |
| Slc27a4 |
G |
T |
2: 29,701,672 (GRCm39) |
R430L |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,770 (GRCm39) |
Y295* |
probably null |
Het |
| Slfn5 |
C |
T |
11: 82,847,418 (GRCm39) |
S101L |
probably damaging |
Het |
| Sult1d1 |
CCATG |
CCATGGCATG |
5: 87,707,629 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
T |
3: 93,351,419 (GRCm39) |
Q286H |
unknown |
Het |
| Tmem184c |
A |
T |
8: 78,331,352 (GRCm39) |
Y172* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,656,266 (GRCm39) |
M833R |
possibly damaging |
Het |
| Ugt1a7c |
G |
T |
1: 88,023,601 (GRCm39) |
L253F |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,369,766 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,148 (GRCm39) |
I3303K |
possibly damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,757 (GRCm39) |
A260T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,880,642 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- GGAGTGTCACTTTCTCACCG -3'
(R):5'- AATGCCTCATCCTAGTCATGGTTTC -3'
Sequencing Primer
(F):5'- TCACCGCTGCTTGCAAG -3'
(R):5'- ATGGTTTCTTTGTATACCATCAGCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation