Incidental Mutation 'R6006:Abcb4'
| ID |
479472 |
| 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 |
044183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8943717-9009231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 8996026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 894
(T894K)
|
| 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: T894K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: T894K
| 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
|
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,804 (GRCm39) |
I296T |
probably benign |
Het |
| Acad12 |
C |
T |
5: 121,737,299 (GRCm39) |
V491I |
possibly damaging |
Het |
| Actr8 |
T |
A |
14: 29,706,099 (GRCm39) |
|
probably null |
Het |
| Adam7 |
A |
C |
14: 68,748,845 (GRCm39) |
D467E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 114,433,606 (GRCm39) |
C1043S |
probably damaging |
Het |
| Adgrb3 |
T |
G |
1: 25,865,612 (GRCm39) |
D77A |
possibly damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,426 (GRCm39) |
D1056E |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,840,330 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
T |
13: 23,670,533 (GRCm39) |
W67R |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,666 (GRCm39) |
N269Y |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,045,933 (GRCm39) |
F991L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,835,597 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cd14 |
T |
C |
18: 36,859,335 (GRCm39) |
D40G |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,493,177 (GRCm39) |
F386I |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 5,299,211 (GRCm39) |
M1I |
probably null |
Het |
| Cnpy3 |
A |
C |
17: 47,047,790 (GRCm39) |
S220A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,845,685 (GRCm39) |
V359A |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,696,105 (GRCm39) |
C2654F |
unknown |
Het |
| Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
| Cpsf4l |
A |
G |
11: 113,590,753 (GRCm39) |
V199A |
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,908,836 (GRCm39) |
Q753* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,852,825 (GRCm39) |
S1307P |
unknown |
Het |
| Fer1l6 |
T |
C |
15: 58,518,893 (GRCm39) |
V1675A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,103 (GRCm39) |
L238P |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,832 (GRCm39) |
Y84H |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,998,854 (GRCm39) |
D318E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,359 (GRCm39) |
F715L |
probably damaging |
Het |
| Mlxip |
T |
C |
5: 123,583,721 (GRCm39) |
F428S |
possibly damaging |
Het |
| Morc3 |
T |
G |
16: 93,663,381 (GRCm39) |
I528R |
possibly damaging |
Het |
| Mtx1 |
C |
T |
3: 89,117,613 (GRCm39) |
G60D |
probably damaging |
Het |
| Mug2 |
G |
C |
6: 122,060,459 (GRCm39) |
Q1398H |
probably null |
Het |
| Mup8 |
T |
C |
4: 60,220,403 (GRCm39) |
I110V |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,309,522 (GRCm39) |
L12* |
probably null |
Het |
| Numa1 |
G |
A |
7: 101,641,926 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
T |
G |
7: 104,609,870 (GRCm39) |
E23A |
probably damaging |
Het |
| Pbk |
C |
T |
14: 66,054,094 (GRCm39) |
P213L |
probably damaging |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,431,905 (GRCm39) |
H224Q |
possibly damaging |
Het |
| Pkp1 |
C |
G |
1: 135,805,406 (GRCm39) |
|
probably null |
Het |
| Rela |
A |
G |
19: 5,689,967 (GRCm39) |
N139S |
probably damaging |
Het |
| Rgs3 |
G |
A |
4: 62,542,143 (GRCm39) |
R39Q |
probably damaging |
Het |
| S1pr3 |
A |
G |
13: 51,573,731 (GRCm39) |
E304G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Setmar |
T |
C |
6: 108,053,387 (GRCm39) |
S294P |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,459,024 (GRCm39) |
N473S |
probably benign |
Het |
| Ssr1 |
TCTCTTTC |
T |
13: 38,169,972 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
A |
G |
6: 59,187,762 (GRCm39) |
I210V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,719,555 (GRCm39) |
F93L |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,361,360 (GRCm39) |
Y633C |
probably damaging |
Het |
| Usp18 |
A |
T |
6: 121,239,781 (GRCm39) |
E292V |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,883,277 (GRCm39) |
|
probably null |
Het |
| Utp18 |
T |
C |
11: 93,776,449 (GRCm39) |
D12G |
probably benign |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,928 (GRCm39) |
H204N |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,241,372 (GRCm39) |
V626A |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,761,809 (GRCm39) |
V619E |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,780,100 (GRCm39) |
D285G |
probably damaging |
Het |
| Zfp3 |
A |
T |
11: 70,662,590 (GRCm39) |
Q183L |
probably benign |
Het |
| Zfp955a |
A |
G |
17: 33,460,660 (GRCm39) |
C491R |
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 |
|
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'- GTATTCGCTTCCATGAGCACC -3'
(R):5'- TTCCGAGCAGACACGTCTAAATG -3'
Sequencing Primer
(F):5'- AGAGACTTAGCTACTCTACTGTGC -3'
(R):5'- TGCTCTCAAGGAACAGTAGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation