Incidental Mutation 'R9098:Abcb4'
ID |
691469 |
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 |
068913-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9098 (G1)
|
Quality Score |
205.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9008441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 1203
(D1203V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
|
AlphaFold |
P21440 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003717
AA Change: D1203V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476 AA Change: D1203V
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: 99.6%
- 20x: 98.8%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,633,211 (GRCm39) |
D168V |
probably damaging |
Het |
Acat2 |
G |
A |
17: 13,178,979 (GRCm39) |
|
probably benign |
Het |
Adam3 |
C |
T |
8: 25,179,484 (GRCm39) |
C611Y |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,415,189 (GRCm39) |
D638G |
probably damaging |
Het |
Adra1b |
T |
C |
11: 43,667,218 (GRCm39) |
N340D |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,916,879 (GRCm39) |
H131R |
probably damaging |
Het |
Aoc2 |
T |
C |
11: 101,217,164 (GRCm39) |
S416P |
possibly damaging |
Het |
Armc8 |
G |
A |
9: 99,387,362 (GRCm39) |
R419* |
probably null |
Het |
Atp6v1h |
T |
G |
1: 5,163,638 (GRCm39) |
V90G |
probably damaging |
Het |
Avl9 |
T |
C |
6: 56,707,628 (GRCm39) |
V191A |
probably benign |
Het |
Bsn |
G |
A |
9: 107,990,173 (GRCm39) |
P1860S |
possibly damaging |
Het |
Btd |
A |
G |
14: 31,384,233 (GRCm39) |
K73R |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,567,391 (GRCm39) |
K731R |
probably benign |
Het |
Chmp7 |
C |
A |
14: 69,956,911 (GRCm39) |
L332F |
probably damaging |
Het |
Cirop |
T |
G |
14: 54,932,686 (GRCm39) |
S393R |
probably damaging |
Het |
Cldn11 |
A |
G |
3: 31,217,276 (GRCm39) |
E148G |
probably damaging |
Het |
Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
A |
T |
4: 18,886,061 (GRCm39) |
Y319* |
probably null |
Het |
Cnnm4 |
A |
G |
1: 36,511,170 (GRCm39) |
T133A |
probably benign |
Het |
Cpeb4 |
A |
T |
11: 31,822,679 (GRCm39) |
E131V |
probably benign |
Het |
Ctns |
A |
G |
11: 73,078,561 (GRCm39) |
|
probably null |
Het |
Dhx36 |
C |
A |
3: 62,414,142 (GRCm39) |
Q73H |
probably benign |
Het |
Dhx36 |
C |
A |
3: 62,414,141 (GRCm39) |
E74* |
probably null |
Het |
Dnah5 |
A |
G |
15: 28,420,107 (GRCm39) |
T3802A |
|
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Flnc |
C |
T |
6: 29,455,518 (GRCm39) |
Q2056* |
probably null |
Het |
Fmo9 |
T |
C |
1: 166,492,199 (GRCm39) |
D408G |
possibly damaging |
Het |
Gipr |
C |
T |
7: 18,897,495 (GRCm39) |
S117N |
unknown |
Het |
Gm14412 |
T |
A |
2: 177,006,356 (GRCm39) |
H513L |
probably damaging |
Het |
Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
Gucy1a2 |
A |
T |
9: 3,634,489 (GRCm39) |
I178L |
probably benign |
Het |
Htr1b |
A |
T |
9: 81,514,481 (GRCm39) |
L42Q |
|
Het |
Htr2b |
T |
C |
1: 86,027,481 (GRCm39) |
T342A |
probably damaging |
Het |
Jkampl |
T |
C |
6: 73,446,517 (GRCm39) |
T11A |
probably benign |
Het |
Jph2 |
C |
T |
2: 163,181,473 (GRCm39) |
V564M |
probably damaging |
Het |
Kcnmb1 |
A |
G |
11: 33,914,806 (GRCm39) |
T36A |
probably damaging |
Het |
Krit1 |
A |
C |
5: 3,863,135 (GRCm39) |
K310N |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,111,508 (GRCm39) |
T2253M |
|
Het |
Lpar6 |
C |
T |
14: 73,476,233 (GRCm39) |
L65F |
probably damaging |
Het |
Megf6 |
G |
A |
4: 154,354,160 (GRCm39) |
G1355R |
probably damaging |
Het |
Mmp3 |
T |
A |
9: 7,446,936 (GRCm39) |
Y39N |
probably damaging |
Het |
Mrtfb |
A |
G |
16: 13,221,053 (GRCm39) |
H743R |
probably benign |
Het |
Ms4a18 |
C |
A |
19: 10,990,741 (GRCm39) |
V118F |
|
Het |
Mthfr |
G |
A |
4: 148,126,082 (GRCm39) |
S51N |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,554,975 (GRCm39) |
T3773S |
unknown |
Het |
Mus81 |
T |
A |
19: 5,534,032 (GRCm39) |
K400* |
probably null |
Het |
Naaladl2 |
A |
T |
3: 24,487,344 (GRCm39) |
D192E |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,366,127 (GRCm39) |
D329G |
possibly damaging |
Het |
Nek11 |
T |
A |
9: 105,170,856 (GRCm39) |
H393L |
probably benign |
Het |
Nmt2 |
T |
A |
2: 3,306,315 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
T |
C |
11: 55,920,408 (GRCm39) |
D279G |
possibly damaging |
Het |
Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or10d4c |
A |
G |
9: 39,558,379 (GRCm39) |
D119G |
probably damaging |
Het |
Or1o2 |
T |
C |
17: 37,542,961 (GRCm39) |
Y100C |
probably benign |
Het |
Or5ak22 |
T |
C |
2: 85,229,995 (GRCm39) |
N294S |
probably damaging |
Het |
Palm |
A |
G |
10: 79,654,988 (GRCm39) |
T249A |
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,381,097 (GRCm39) |
Y309N |
probably benign |
Het |
Rhobtb3 |
A |
G |
13: 76,087,702 (GRCm39) |
I95T |
probably damaging |
Het |
Rnpep |
A |
T |
1: 135,206,559 (GRCm39) |
F178L |
possibly damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,019,227 (GRCm39) |
S105P |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,638,756 (GRCm39) |
T253I |
possibly damaging |
Het |
Schip1 |
A |
G |
3: 67,972,318 (GRCm39) |
D15G |
|
Het |
Sis |
T |
A |
3: 72,844,578 (GRCm39) |
I719F |
possibly damaging |
Het |
Snx18 |
A |
G |
13: 113,754,310 (GRCm39) |
S208P |
probably benign |
Het |
Srcap |
T |
C |
7: 127,151,816 (GRCm39) |
V2125A |
probably damaging |
Het |
Stx7 |
C |
T |
10: 24,058,724 (GRCm39) |
Q199* |
probably null |
Het |
Syt6 |
T |
C |
3: 103,492,895 (GRCm39) |
I134T |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,510,870 (GRCm39) |
M460T |
probably benign |
Het |
Tnni3k |
T |
C |
3: 154,647,314 (GRCm39) |
T398A |
possibly damaging |
Het |
Tspan4 |
T |
C |
7: 141,071,816 (GRCm39) |
S188P |
probably benign |
Het |
Ubap2l |
A |
G |
3: 89,909,756 (GRCm39) |
S1025P |
unknown |
Het |
Ubl7 |
A |
G |
9: 57,829,035 (GRCm39) |
D219G |
probably benign |
Het |
Vmn2r115 |
C |
A |
17: 23,564,803 (GRCm39) |
T230K |
probably benign |
Het |
Vmn2r95 |
T |
A |
17: 18,660,167 (GRCm39) |
M193K |
possibly damaging |
Het |
Zfp639 |
A |
G |
3: 32,573,885 (GRCm39) |
E170G |
probably damaging |
Het |
Zfy1 |
A |
G |
Y: 725,987 (GRCm39) |
S593P |
possibly damaging |
Het |
Zscan4-ps1 |
T |
A |
7: 10,799,495 (GRCm39) |
T465S |
probably damaging |
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 |
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'- AGTCTAAGCTGTGATTCCACG -3'
(R):5'- GGGCTTCCATAATGACCCTC -3'
Sequencing Primer
(F):5'- TCCACGGAAATCAGATTAAATGC -3'
(R):5'- TCCATAATGACCCTCAAAACTGTTG -3'
|
Posted On |
2021-12-30 |