Incidental Mutation 'R5227:Abcg8'
ID |
402709 |
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 |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5227 (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 84999249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 115
(L115P)
|
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: L116P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035246 Gene: ENSMUSG00000024254 AA Change: L116P
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: 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 damaging
Transcript: ENSMUST00000171915
AA Change: L115P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126675 Gene: ENSMUSG00000024254 AA Change: L115P
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: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
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 |
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'- GTCCCCAATCACTCAAGATGGC -3'
(R):5'- CAATGAAAGCCAGGGTCTCTC -3'
Sequencing Primer
(F):5'- ATCACTCAAGATGGCCTTAGG -3'
(R):5'- AAAGCCAGGGTCTCTCTGACG -3'
|
Posted On |
2016-07-22 |