Incidental Mutation 'R1493:Abcg8'
| ID |
165587 |
| 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 |
039544-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1493 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
84983730-85007761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85004107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 472
(S472P)
|
| 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: S473P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035246
Gene: ENSMUSG00000024254
AA Change: S473P
| 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: S346P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254
AA Change: S346P
| 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: S472P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126675
Gene: ENSMUSG00000024254
AA Change: S472P
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
| Arhgap42 |
T |
G |
9: 9,030,798 (GRCm39) |
E339D |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
| Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
| Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
| Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 21,956,866 (GRCm39) |
E1204V |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
| Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
| Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
| Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
| Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
| Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
| Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
| Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
| Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
| Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
| Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,364,645 (GRCm39) |
H271R |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
| Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
| Zfp692 |
A |
T |
11: 58,204,866 (GRCm39) |
I409F |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGAACCCATAGCTTTGCGACG -3'
(R):5'- GAGTATCATTTCTGCCTCACAGCCC -3'
Sequencing Primer
(F):5'- cgacgagtgagcaagtatcc -3'
(R):5'- TCTGGGGACAGTTTAATGGC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation