Incidental Mutation 'R4638:Abcg8'
ID |
350811 |
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 |
041900-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
84983730-85007761 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84999369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 155
(D155G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126675
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045714]
[ENSMUST00000170725]
[ENSMUST00000171915]
|
AlphaFold |
Q9DBM0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045714
AA Change: D156G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035246 Gene: ENSMUSG00000024254 AA Change: D156G
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: D29G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000127785 Gene: ENSMUSG00000024254 AA Change: D29G
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: D155G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126675 Gene: ENSMUSG00000024254 AA Change: D155G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
91% (40/44) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
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 |
|
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 |
R8231:Abcg8
|
UTSW |
17 |
85,000,213 (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'- TGGCTTCTGAAGAGCAGTTCC -3'
(R):5'- AGCTAGACTGGGTCTTCTGG -3'
Sequencing Primer
(F):5'- AGAGCAGTTCCGGCGCTTC -3'
(R):5'- CTAGACTGGGTCTTCTGGCAAAC -3'
|
Posted On |
2015-10-08 |