Incidental Mutation 'R7787:Abcb4'
ID |
599584 |
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 |
045843-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7787 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8959220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 216
(V216M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
AlphaFold |
P21440 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003717
AA Change: V216M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476 AA Change: V216M
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 damaging
Transcript: ENSMUST00000196067
AA Change: V216M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142425 Gene: ENSMUSG00000042476 AA Change: V216M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (74/74) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,263,926 (GRCm39) |
I38N |
probably damaging |
Het |
Abcc2 |
G |
A |
19: 43,772,685 (GRCm39) |
V32M |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,471,625 (GRCm39) |
V714F |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,986,679 (GRCm39) |
D2654E |
unknown |
Het |
Ak8 |
T |
A |
2: 28,602,324 (GRCm39) |
I86N |
probably damaging |
Het |
Apob |
G |
A |
12: 8,040,780 (GRCm39) |
R635Q |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,150,700 (GRCm39) |
R1466H |
possibly damaging |
Het |
Bltp1 |
A |
C |
3: 36,939,557 (GRCm39) |
H137P |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,066,866 (GRCm39) |
T252A |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,358,314 (GRCm39) |
I648F |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,917,412 (GRCm39) |
D121G |
probably benign |
Het |
Cc2d1a |
C |
A |
8: 84,860,144 (GRCm39) |
Q904H |
possibly damaging |
Het |
Cd1d1 |
A |
G |
3: 86,904,903 (GRCm39) |
S212P |
probably damaging |
Het |
Cfap69 |
C |
T |
5: 5,639,260 (GRCm39) |
C638Y |
probably damaging |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,659,594 (GRCm39) |
V754A |
probably benign |
Het |
Cnpy4 |
T |
A |
5: 138,190,900 (GRCm39) |
H187Q |
probably benign |
Het |
Cpne5 |
A |
T |
17: 29,407,261 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
T |
2: 145,767,515 (GRCm39) |
N359K |
probably benign |
Het |
Cyb561 |
A |
T |
11: 105,828,466 (GRCm39) |
L63H |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,775,676 (GRCm39) |
T540A |
probably benign |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Fstl5 |
A |
C |
3: 76,337,131 (GRCm39) |
D230A |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Hecw1 |
T |
C |
13: 14,493,494 (GRCm39) |
Q337R |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,632,343 (GRCm39) |
Y865N |
probably damaging |
Het |
Hyal6 |
A |
G |
6: 24,743,735 (GRCm39) |
Y477C |
probably damaging |
Het |
Ifi205 |
C |
T |
1: 173,842,640 (GRCm39) |
G352E |
probably damaging |
Het |
Ifi205 |
T |
A |
1: 173,842,644 (GRCm39) |
S351C |
probably damaging |
Het |
Irak3 |
C |
A |
10: 120,012,256 (GRCm39) |
Q169H |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,453,499 (GRCm39) |
N99K |
probably benign |
Het |
Kng2 |
A |
G |
16: 22,818,598 (GRCm39) |
F298S |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,192,380 (GRCm39) |
E256G |
|
Het |
Lamc3 |
T |
C |
2: 31,790,551 (GRCm39) |
I257T |
probably damaging |
Het |
Mas1 |
A |
C |
17: 13,061,374 (GRCm39) |
N16K |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,741,794 (GRCm39) |
L3855Q |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mybph |
G |
A |
1: 134,125,246 (GRCm39) |
G258D |
probably benign |
Het |
Mycbp2 |
A |
C |
14: 103,364,533 (GRCm39) |
H4358Q |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,552,208 (GRCm39) |
D1012G |
unknown |
Het |
Nub1 |
C |
A |
5: 24,913,801 (GRCm39) |
Q561K |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,107,980 (GRCm39) |
N1029S |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,252 (GRCm39) |
C99* |
probably null |
Het |
Or56a4 |
T |
G |
7: 104,806,401 (GRCm39) |
I163L |
probably benign |
Het |
Or5k15 |
A |
G |
16: 58,709,953 (GRCm39) |
F210S |
probably benign |
Het |
Or6e1 |
A |
G |
14: 54,520,169 (GRCm39) |
L61P |
probably damaging |
Het |
Or8g19 |
C |
T |
9: 39,055,548 (GRCm39) |
L51F |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,280,277 (GRCm39) |
Y701N |
possibly damaging |
Het |
Pglyrp4 |
C |
G |
3: 90,640,295 (GRCm39) |
H182D |
probably damaging |
Het |
Phaf1 |
T |
G |
8: 105,957,820 (GRCm39) |
V42G |
probably damaging |
Het |
Pkp4 |
C |
A |
2: 59,152,881 (GRCm39) |
D576E |
probably damaging |
Het |
Plec |
A |
G |
15: 76,083,811 (GRCm39) |
V17A |
unknown |
Het |
Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
Pou4f1 |
A |
T |
14: 104,703,460 (GRCm39) |
M324K |
unknown |
Het |
Ppa2 |
G |
T |
3: 133,036,259 (GRCm39) |
G138W |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,785,285 (GRCm39) |
F990I |
possibly damaging |
Het |
Proser1 |
T |
A |
3: 53,380,969 (GRCm39) |
I182N |
probably damaging |
Het |
Sgk3 |
T |
C |
1: 9,952,016 (GRCm39) |
L214P |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,496,762 (GRCm39) |
S1765P |
possibly damaging |
Het |
Slc15a2 |
G |
A |
16: 36,572,228 (GRCm39) |
S712L |
probably benign |
Het |
Slc38a9 |
T |
C |
13: 112,825,880 (GRCm39) |
L106P |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,453,900 (GRCm39) |
R271H |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,877,643 (GRCm39) |
I227F |
probably damaging |
Het |
Srgap3 |
C |
T |
6: 112,752,520 (GRCm39) |
M321I |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,596,418 (GRCm39) |
I340V |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,181,711 (GRCm39) |
R341* |
probably null |
Het |
Terf2ip |
A |
C |
8: 112,742,087 (GRCm39) |
E260D |
probably damaging |
Het |
Tert |
G |
T |
13: 73,797,051 (GRCm39) |
K1096N |
probably damaging |
Het |
Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
Ube3d |
T |
A |
9: 86,254,395 (GRCm39) |
Q362L |
possibly damaging |
Het |
Unc5c |
G |
A |
3: 141,474,313 (GRCm39) |
G295D |
probably damaging |
Het |
Wnt7b |
T |
A |
15: 85,428,112 (GRCm39) |
I117F |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,895,043 (GRCm39) |
|
probably null |
Het |
Zfp619 |
A |
G |
7: 39,186,226 (GRCm39) |
Q752R |
possibly damaging |
Het |
Zkscan3 |
T |
C |
13: 21,572,034 (GRCm39) |
K533E |
possibly 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 |
|
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'- AGGGGCATGCTTCTCTTGTC -3'
(R):5'- ATGAAACATTCCTGGGCGTG -3'
Sequencing Primer
(F):5'- GTCTACTTCACCTTTCTGACTGAAG -3'
(R):5'- AAACATTCCTGGGCGTGGTTTC -3'
|
Posted On |
2019-11-26 |