Incidental Mutation 'R7081:Abcb4'
| ID |
549514 |
| 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 |
045175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8984263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 664
(N664K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
| AlphaFold |
P21440 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003717
AA Change: N664K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: N664K
| 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: N664K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: N664K
| 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: 99.2%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
A |
11: 84,361,951 (GRCm39) |
H337L |
possibly damaging |
Het |
| Adh7 |
A |
G |
3: 137,934,606 (GRCm39) |
D343G |
probably benign |
Het |
| Als2cl |
G |
A |
9: 110,723,650 (GRCm39) |
R682Q |
possibly damaging |
Het |
| Angptl6 |
A |
C |
9: 20,786,644 (GRCm39) |
I334R |
probably damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,978,863 (GRCm39) |
N101D |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 15,047,547 (GRCm39) |
Q1137* |
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,881 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
T |
C |
5: 97,212,820 (GRCm39) |
S568P |
unknown |
Het |
| C4b |
A |
C |
17: 34,954,417 (GRCm39) |
F917L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,576,129 (GRCm39) |
V168E |
possibly damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,264,146 (GRCm39) |
I543F |
probably benign |
Het |
| Cd36 |
T |
C |
5: 18,019,702 (GRCm39) |
D133G |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,106,948 (GRCm39) |
V1911A |
unknown |
Het |
| Cplx4 |
A |
T |
18: 66,100,538 (GRCm39) |
|
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,272 (GRCm39) |
D415E |
possibly damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,318,183 (GRCm39) |
I388T |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,601,025 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,671,285 (GRCm39) |
I35F |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,241,601 (GRCm39) |
L206Q |
unknown |
Het |
| Eif2a |
T |
C |
3: 58,449,139 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,063,801 (GRCm39) |
F612L |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,990,990 (GRCm39) |
L23P |
probably damaging |
Het |
| Fcamr |
A |
T |
1: 130,740,949 (GRCm39) |
E456V |
probably damaging |
Het |
| Fkbp8 |
G |
A |
8: 70,983,644 (GRCm39) |
R106H |
probably benign |
Het |
| Galr2 |
T |
A |
11: 116,173,874 (GRCm39) |
L168Q |
probably damaging |
Het |
| Gm11111 |
C |
T |
5: 98,701,399 (GRCm39) |
S22L |
unknown |
Het |
| Gnpat |
T |
C |
8: 125,590,008 (GRCm39) |
F11S |
possibly damaging |
Het |
| H2-T24 |
A |
T |
17: 36,328,344 (GRCm39) |
D46E |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Ifna12 |
T |
C |
4: 88,521,440 (GRCm39) |
R36G |
probably damaging |
Het |
| Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,631,373 (GRCm39) |
D683E |
probably benign |
Het |
| Krit1 |
T |
C |
5: 3,873,651 (GRCm39) |
Y477H |
possibly damaging |
Het |
| Lipm |
T |
A |
19: 34,098,723 (GRCm39) |
V399D |
possibly damaging |
Het |
| Lrguk |
A |
T |
6: 34,079,074 (GRCm39) |
T770S |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,781 (GRCm39) |
N2638S |
unknown |
Het |
| Lrrc40 |
T |
C |
3: 157,742,442 (GRCm39) |
V27A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,690,574 (GRCm39) |
V355A |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,091,422 (GRCm39) |
I128V |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,789 (GRCm39) |
D289G |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,970,737 (GRCm39) |
F889S |
probably damaging |
Het |
| Ndufv3 |
C |
T |
17: 31,746,407 (GRCm39) |
P99L |
possibly damaging |
Het |
| Nlrp10 |
A |
C |
7: 108,523,855 (GRCm39) |
S542A |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,331,477 (GRCm39) |
D718E |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 109,759,105 (GRCm39) |
I355F |
probably benign |
Het |
| Nup210 |
A |
G |
6: 91,037,647 (GRCm39) |
V742A |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,798 (GRCm39) |
V82A |
possibly damaging |
Het |
| Olig2 |
T |
A |
16: 91,023,307 (GRCm39) |
L7Q |
probably damaging |
Het |
| Or51f23b |
A |
T |
7: 102,402,395 (GRCm39) |
I247N |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,939 (GRCm39) |
F61I |
probably damaging |
Het |
| Parpbp |
A |
T |
10: 87,929,517 (GRCm39) |
W444R |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,848 (GRCm39) |
D326G |
probably damaging |
Het |
| Pramel56 |
T |
A |
5: 95,022,641 (GRCm39) |
N107K |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,103,075 (GRCm39) |
Q851L |
probably benign |
Het |
| Psg21 |
C |
T |
7: 18,388,774 (GRCm39) |
W106* |
probably null |
Het |
| Rab18 |
T |
G |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
| Rbm19 |
T |
A |
5: 120,261,216 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
T |
C |
10: 69,102,127 (GRCm39) |
V136A |
probably benign |
Het |
| Rsph4a |
G |
A |
10: 33,785,189 (GRCm39) |
V367I |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,781,391 (GRCm39) |
N1161S |
probably benign |
Het |
| Sgcd |
C |
A |
11: 47,016,428 (GRCm39) |
G145* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,001,755 (GRCm39) |
K134R |
probably null |
Het |
| Slc9b2 |
A |
G |
3: 135,027,698 (GRCm39) |
E108G |
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,531,706 (GRCm39) |
S317T |
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,911,302 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,928,376 (GRCm39) |
V71A |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,264 (GRCm39) |
D227G |
possibly damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,903 (GRCm39) |
L44M |
possibly damaging |
Het |
| Wdr20 |
G |
A |
12: 110,769,884 (GRCm39) |
V160I |
possibly damaging |
Het |
| Zfand4 |
T |
A |
6: 116,292,581 (GRCm39) |
N667K |
possibly damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,110,189 (GRCm39) |
H293R |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,609,723 (GRCm39) |
V1080A |
possibly damaging |
Het |
| Zhx1 |
C |
T |
15: 57,917,734 (GRCm39) |
V171I |
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 |
|
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'- CCTTGATTTCAAACCTCAACCTAG -3'
(R):5'- TCTTTAAAGTAGCATGTGACCCAC -3'
Sequencing Primer
(F):5'- AAGCCAGATCCTGTCAGA -3'
(R):5'- GTGACCCACTATAAGAGTCATGTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation