Incidental Mutation 'IGL02498:Abcg8'
| ID |
295896 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcg8
|
| Ensembl Gene |
ENSMUSG00000024254 |
| Gene Name |
ATP binding cassette subfamily G member 8 |
| Synonyms |
Sterolin-2, 1300003C16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
84983730-85007761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84990693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 12
(W12R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045714]
[ENSMUST00000066175]
[ENSMUST00000163375]
[ENSMUST00000170725]
[ENSMUST00000171915]
|
| AlphaFold |
Q9DBM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045714
AA Change: W12R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: W12R
| 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 benign
Transcript: ENSMUST00000066175
|
| SMART Domains |
Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
79 |
271 |
2.28e-11 |
SMART |
|
Pfam:ABC2_membrane
|
367 |
581 |
1.3e-24 |
PFAM |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163375
|
| SMART Domains |
Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_tran
|
1 |
134 |
7.8e-17 |
PFAM |
|
Pfam:ABC2_membrane
|
195 |
409 |
1.4e-23 |
PFAM |
|
transmembrane domain
|
449 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170725
|
| SMART Domains |
Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
| 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 benign
Transcript: ENSMUST00000171915
AA Change: W12R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: W12R
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,617,265 (GRCm39) |
|
probably null |
Het |
| Ablim1 |
A |
T |
19: 57,140,751 (GRCm39) |
C155* |
probably null |
Het |
| Adam33 |
A |
G |
2: 130,895,157 (GRCm39) |
C658R |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,664,135 (GRCm39) |
H357R |
possibly damaging |
Het |
| Adamts2 |
G |
T |
11: 50,668,023 (GRCm39) |
K528N |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,893,339 (GRCm39) |
P955S |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,770,815 (GRCm39) |
I365F |
probably damaging |
Het |
| AW112010 |
T |
C |
19: 11,025,701 (GRCm39) |
|
noncoding transcript |
Het |
| AY358078 |
T |
C |
14: 52,040,944 (GRCm39) |
S88P |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,823 (GRCm39) |
L1504S |
probably benign |
Het |
| Cracdl |
T |
C |
1: 37,662,926 (GRCm39) |
T991A |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,367,441 (GRCm39) |
H593L |
probably damaging |
Het |
| Gm10463 |
T |
C |
5: 32,288,742 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,723 (GRCm39) |
L635Q |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,109,244 (GRCm39) |
C160R |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,142,821 (GRCm39) |
R252H |
probably damaging |
Het |
| Litaf |
A |
G |
16: 10,784,423 (GRCm39) |
V29A |
possibly damaging |
Het |
| Lmo7 |
G |
A |
14: 102,044,918 (GRCm39) |
V57I |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,593,412 (GRCm39) |
L253Q |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,870,235 (GRCm39) |
V458I |
probably benign |
Het |
| Ncstn |
G |
T |
1: 171,896,159 (GRCm39) |
F506L |
probably benign |
Het |
| Nedd8 |
T |
A |
14: 55,901,273 (GRCm39) |
D21V |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,591 (GRCm39) |
T183A |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,958,715 (GRCm39) |
S936P |
unknown |
Het |
| Pkd1 |
T |
C |
17: 24,804,753 (GRCm39) |
I3159T |
possibly damaging |
Het |
| Prrt3 |
C |
A |
6: 113,474,788 (GRCm39) |
V145F |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,217,497 (GRCm39) |
V666E |
probably damaging |
Het |
| Rapgef2 |
C |
T |
3: 78,974,060 (GRCm39) |
V1577M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,564 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
A |
19: 54,016,207 (GRCm39) |
L407* |
probably null |
Het |
| Slc6a12 |
A |
G |
6: 121,338,029 (GRCm39) |
M435V |
probably benign |
Het |
| Smarcc1 |
C |
T |
9: 110,020,002 (GRCm39) |
T623I |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,289,517 (GRCm39) |
L245S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,713 (GRCm39) |
M820K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Stoml2 |
C |
A |
4: 43,031,045 (GRCm39) |
V37L |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,444 (GRCm39) |
H465Q |
probably benign |
Het |
| Tmem164 |
T |
A |
X: 141,589,044 (GRCm39) |
V40D |
possibly damaging |
Het |
| Trim37 |
A |
G |
11: 87,075,876 (GRCm39) |
E494G |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,845,243 (GRCm39) |
D195G |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,137,837 (GRCm39) |
V2427M |
probably damaging |
Het |
| Usp27x |
T |
C |
X: 7,239,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
T |
A |
17: 23,177,349 (GRCm39) |
V711D |
probably damaging |
Het |
| Zfp940 |
T |
C |
7: 29,546,376 (GRCm39) |
T7A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation