Incidental Mutation 'RF015:Abcb4'
ID |
603464 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF015 (G1)
|
Quality Score |
106.457 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GAA to G
at 8946594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003717]
[ENSMUST00000196067]
|
AlphaFold |
P21440 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003717
|
SMART Domains |
Protein: ENSMUSP00000003717 Gene: ENSMUSG00000042476
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 null
Transcript: ENSMUST00000196067
|
SMART Domains |
Protein: ENSMUSP00000142425 Gene: ENSMUSG00000042476
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: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,824 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,822 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,819 (GRCm39) |
|
probably benign |
Het |
Agap1 |
T |
A |
1: 89,561,985 (GRCm39) |
Y214* |
probably null |
Het |
Arhgap17 |
CTGTTGTTG |
CTGTTG |
7: 122,886,085 (GRCm39) |
|
probably benign |
Het |
Arid1a |
AGGC |
A |
4: 133,480,142 (GRCm39) |
|
probably benign |
Het |
Bco2 |
A |
G |
9: 50,457,297 (GRCm39) |
F82L |
probably damaging |
Het |
Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAGTATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGGGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
Capn9 |
T |
C |
8: 125,345,221 (GRCm39) |
F683L |
probably benign |
Het |
Cep131 |
CTGTTGTT |
CTGTTGTTGTT |
11: 119,963,794 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
GGAGGAGGAGGAG |
GGAGGAGGAGGAGGAG |
5: 123,392,305 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
TCTCA |
T |
5: 123,412,224 (GRCm39) |
|
probably benign |
Het |
Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
GACACA |
GACACAGTGCCCAAGGATGTGACATACACA |
9: 86,922,485 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CTGCCCAGGGA |
CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
Cyria |
T |
A |
12: 12,419,939 (GRCm39) |
S294R |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,895,141 (GRCm39) |
D3557N |
probably damaging |
Het |
Dnmt1 |
GGAGCACAGTTCCTACCTCGTT |
GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT |
9: 20,821,420 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
Gatad1 |
A |
T |
5: 3,697,523 (GRCm39) |
C33S |
possibly damaging |
Het |
H2-DMb1 |
A |
G |
17: 34,374,476 (GRCm39) |
Y42C |
probably damaging |
Het |
Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
Hsdl2 |
GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,640 (GRCm39) |
|
probably benign |
Het |
Irag2 |
AGCACATTG |
AGCACATTGCGCACATTG |
6: 145,119,509 (GRCm39) |
|
probably benign |
Het |
Lce1m |
TGCCAC |
TGCCACTGCTGCGGCCAC |
3: 92,925,455 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,447 (GRCm39) |
|
probably benign |
Het |
Mast4 |
GGACAAGCTGTGAGTTGGGGAACCCGGGAG |
GG |
13: 102,875,755 (GRCm39) |
|
probably null |
Het |
Mucl2 |
T |
A |
15: 103,927,696 (GRCm39) |
N87I |
probably benign |
Het |
Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
Nup214 |
T |
C |
2: 31,924,718 (GRCm39) |
V1749A |
probably benign |
Het |
Or52e5 |
A |
G |
7: 104,719,255 (GRCm39) |
I194V |
probably damaging |
Het |
Pcdhgb4 |
A |
T |
18: 37,854,855 (GRCm39) |
N417Y |
probably damaging |
Het |
Pclo |
G |
T |
5: 14,565,283 (GRCm39) |
L16F |
unknown |
Het |
Pik3c2g |
T |
A |
6: 139,700,497 (GRCm39) |
N262K |
|
Het |
Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
Rnf41 |
C |
T |
10: 128,271,279 (GRCm39) |
A63V |
probably benign |
Het |
Sirt1 |
C |
T |
10: 63,172,795 (GRCm39) |
A163T |
probably damaging |
Het |
Six3 |
GCG |
GCGTCG |
17: 85,928,798 (GRCm39) |
|
probably benign |
Het |
Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
Skor2 |
A |
G |
18: 76,948,483 (GRCm39) |
E735G |
probably damaging |
Het |
Slc26a8 |
TCTCTGGCTCTGGCTCTGGCTCTGGCTC |
TCTCTGGCTCTGGCTCTGGCTC |
17: 28,857,315 (GRCm39) |
|
probably benign |
Het |
Smco2 |
T |
TTCG |
6: 146,754,161 (GRCm39) |
|
probably benign |
Het |
Strada |
A |
G |
11: 106,061,846 (GRCm39) |
I172T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,252,248 (GRCm39) |
I2469V |
probably benign |
Het |
Tcof1 |
C |
CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA |
18: 60,966,656 (GRCm39) |
|
probably benign |
Het |
Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
Ttll7 |
T |
A |
3: 146,685,413 (GRCm39) |
F882L |
probably benign |
Het |
Usp2 |
TGTGACCTGTTCTTCACTTAC |
TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC |
9: 44,000,406 (GRCm39) |
|
probably benign |
Het |
Utp18 |
A |
G |
11: 93,776,287 (GRCm39) |
L66P |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,371,405 (GRCm39) |
E186K |
possibly damaging |
Het |
Zfp384 |
AGGCCCAGGCCC |
AGGCCCAGGCCCCGGCCCAGGCCC |
6: 125,013,444 (GRCm39) |
|
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,356,882 (GRCm39) |
I703V |
probably benign |
Het |
Zpld2 |
T |
C |
4: 133,920,338 (GRCm39) |
H609R |
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 |
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 |
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'- GTACTTGATGGCTGCCTTGC -3'
(R):5'- GTCTGTCTTGTGACTTAAAGCC -3'
Sequencing Primer
(F):5'- CTTGCAGCATGCTTGAAGC -3'
(R):5'- CGTTTACAATTAGGCAAACCATAGGC -3'
|
Posted On |
2019-12-04 |