Incidental Mutation 'R8231:Abcg8'
ID |
637165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg8
|
Ensembl Gene |
ENSMUSG00000024254 |
Gene Name |
ATP binding cassette subfamily G member 8 |
Synonyms |
Sterolin-2, 1300003C16Rik |
MMRRC Submission |
067663-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8231 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
84983730-85007761 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85000213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 258
(R258C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045714]
[ENSMUST00000170725]
[ENSMUST00000171915]
|
AlphaFold |
Q9DBM0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045714
AA Change: R258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035246 Gene: ENSMUSG00000024254 AA Change: R258C
Domain | Start | End | E-Value | Type |
Pfam:ABC_tran
|
89 |
242 |
2.1e-29 |
PFAM |
Pfam:ABC2_membrane
|
397 |
608 |
1.7e-36 |
PFAM |
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170725
AA Change: R131C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127785 Gene: ENSMUSG00000024254 AA Change: R131C
Domain | Start | End | E-Value | Type |
Pfam:ABC_tran
|
1 |
115 |
2.6e-18 |
PFAM |
Pfam:ABC2_membrane
|
270 |
481 |
7.4e-38 |
PFAM |
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171915
AA Change: R257C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126675 Gene: ENSMUSG00000024254 AA Change: R257C
Domain | Start | End | E-Value | Type |
Pfam:ABC_tran
|
88 |
241 |
7.5e-30 |
PFAM |
Pfam:ABC2_membrane
|
396 |
607 |
1.7e-37 |
PFAM |
transmembrane domain
|
639 |
661 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
Het |
|
Other mutations in Abcg8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Abcg8
|
APN |
17 |
84,995,957 (GRCm39) |
splice site |
probably null |
|
IGL01019:Abcg8
|
APN |
17 |
84,999,423 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02498:Abcg8
|
APN |
17 |
84,990,693 (GRCm39) |
missense |
probably benign |
|
IGL02506:Abcg8
|
APN |
17 |
84,999,916 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03077:Abcg8
|
APN |
17 |
84,999,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Abcg8
|
UTSW |
17 |
85,000,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R0130:Abcg8
|
UTSW |
17 |
84,994,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R0930:Abcg8
|
UTSW |
17 |
84,990,705 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Abcg8
|
UTSW |
17 |
84,994,155 (GRCm39) |
splice site |
probably benign |
|
R1493:Abcg8
|
UTSW |
17 |
85,004,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R1628:Abcg8
|
UTSW |
17 |
84,999,419 (GRCm39) |
nonsense |
probably null |
|
R1916:Abcg8
|
UTSW |
17 |
84,995,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1935:Abcg8
|
UTSW |
17 |
85,002,417 (GRCm39) |
splice site |
probably benign |
|
R1971:Abcg8
|
UTSW |
17 |
85,002,587 (GRCm39) |
splice site |
probably benign |
|
R4638:Abcg8
|
UTSW |
17 |
84,999,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R4693:Abcg8
|
UTSW |
17 |
85,004,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R5182:Abcg8
|
UTSW |
17 |
85,000,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Abcg8
|
UTSW |
17 |
84,999,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R5621:Abcg8
|
UTSW |
17 |
85,003,421 (GRCm39) |
missense |
probably damaging |
0.96 |
R5772:Abcg8
|
UTSW |
17 |
84,994,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7315:Abcg8
|
UTSW |
17 |
85,004,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R7709:Abcg8
|
UTSW |
17 |
84,999,919 (GRCm39) |
missense |
probably damaging |
0.99 |
R7951:Abcg8
|
UTSW |
17 |
85,004,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R8947:Abcg8
|
UTSW |
17 |
84,999,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R9004:Abcg8
|
UTSW |
17 |
85,004,790 (GRCm39) |
missense |
probably benign |
0.38 |
R9108:Abcg8
|
UTSW |
17 |
85,000,243 (GRCm39) |
missense |
probably benign |
|
R9396:Abcg8
|
UTSW |
17 |
85,000,282 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcg8
|
UTSW |
17 |
85,002,458 (GRCm39) |
nonsense |
probably null |
|
Z1177:Abcg8
|
UTSW |
17 |
84,999,434 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Abcg8
|
UTSW |
17 |
85,003,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCAGGTGGAAGACGTAATCG -3'
(R):5'- TTGCTATAGCGAGGACAAGG -3'
Sequencing Primer
(F):5'- AGACGTAATCGCCGAGCTG -3'
(R):5'- GGTGGCCAATGGATGTGAAGTAC -3'
|
Posted On |
2020-07-13 |