Incidental Mutation 'R1084:Abcg4'
ID |
84958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg4
|
Ensembl Gene |
ENSMUSG00000032131 |
Gene Name |
ATP binding cassette subfamily G member 4 |
Synonyms |
6430517O04Rik |
MMRRC Submission |
039170-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R1084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44188766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 476
(V476M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000161408]
[ENSMUST00000162783]
|
AlphaFold |
Q91WA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034648
AA Change: V476M
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034648 Gene: ENSMUSG00000032131 AA Change: V476M
Domain | Start | End | E-Value | Type |
AAA
|
94 |
285 |
4.46e-14 |
SMART |
Pfam:ABC2_membrane
|
372 |
583 |
1.6e-49 |
PFAM |
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000085979
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160323
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160384
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161354
AA Change: V476M
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124647 Gene: ENSMUSG00000032131 AA Change: V476M
Domain | Start | End | E-Value | Type |
AAA
|
94 |
285 |
4.46e-14 |
SMART |
Pfam:ABC2_membrane
|
372 |
583 |
4.8e-47 |
PFAM |
transmembrane domain
|
616 |
638 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161206
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161408
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162783
|
SMART Domains |
Protein: ENSMUSP00000123999 Gene: ENSMUSG00000032131
Domain | Start | End | E-Value | Type |
Blast:AAA
|
1 |
37 |
9e-20 |
BLAST |
SCOP:d1gcya2
|
33 |
64 |
1e-2 |
SMART |
|
Meta Mutation Damage Score |
0.1756 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
Validation Efficiency |
100% (39/39) |
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 ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017] PHENOTYPE: Mice homozygous for a report allele exhibit increased brain lathosterol 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 |
A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
Blvra |
A |
G |
2: 126,922,573 (GRCm39) |
T3A |
probably benign |
Het |
Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
probably damaging |
Het |
|
Other mutations in Abcg4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Abcg4
|
APN |
9 |
44,186,439 (GRCm39) |
splice site |
probably benign |
|
IGL00585:Abcg4
|
APN |
9 |
44,192,920 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02016:Abcg4
|
APN |
9 |
44,198,647 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02085:Abcg4
|
APN |
9 |
44,192,854 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02142:Abcg4
|
APN |
9 |
44,189,014 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02171:Abcg4
|
APN |
9 |
44,186,306 (GRCm39) |
unclassified |
probably benign |
|
IGL02309:Abcg4
|
APN |
9 |
44,193,125 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02882:Abcg4
|
APN |
9 |
44,188,786 (GRCm39) |
nonsense |
probably null |
|
R0009:Abcg4
|
UTSW |
9 |
44,188,946 (GRCm39) |
splice site |
probably benign |
|
R0023:Abcg4
|
UTSW |
9 |
44,186,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R0481:Abcg4
|
UTSW |
9 |
44,190,666 (GRCm39) |
missense |
probably benign |
0.07 |
R0513:Abcg4
|
UTSW |
9 |
44,192,984 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0644:Abcg4
|
UTSW |
9 |
44,185,996 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0649:Abcg4
|
UTSW |
9 |
44,189,330 (GRCm39) |
missense |
probably benign |
0.00 |
R1518:Abcg4
|
UTSW |
9 |
44,186,666 (GRCm39) |
missense |
probably benign |
0.05 |
R1528:Abcg4
|
UTSW |
9 |
44,186,020 (GRCm39) |
missense |
probably damaging |
0.99 |
R1702:Abcg4
|
UTSW |
9 |
44,186,370 (GRCm39) |
missense |
probably damaging |
0.99 |
R1932:Abcg4
|
UTSW |
9 |
44,190,691 (GRCm39) |
missense |
probably benign |
0.16 |
R4477:Abcg4
|
UTSW |
9 |
44,186,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Abcg4
|
UTSW |
9 |
44,198,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R4883:Abcg4
|
UTSW |
9 |
44,190,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Abcg4
|
UTSW |
9 |
44,188,954 (GRCm39) |
critical splice donor site |
probably null |
|
R5039:Abcg4
|
UTSW |
9 |
44,192,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5209:Abcg4
|
UTSW |
9 |
44,186,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R5329:Abcg4
|
UTSW |
9 |
44,190,842 (GRCm39) |
missense |
probably benign |
0.00 |
R5492:Abcg4
|
UTSW |
9 |
44,189,355 (GRCm39) |
missense |
probably benign |
0.01 |
R5521:Abcg4
|
UTSW |
9 |
44,190,980 (GRCm39) |
unclassified |
probably benign |
|
R5558:Abcg4
|
UTSW |
9 |
44,192,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R5625:Abcg4
|
UTSW |
9 |
44,189,333 (GRCm39) |
missense |
probably benign |
0.42 |
R6318:Abcg4
|
UTSW |
9 |
44,186,645 (GRCm39) |
missense |
probably benign |
|
R7060:Abcg4
|
UTSW |
9 |
44,186,425 (GRCm39) |
missense |
probably benign |
0.13 |
R7129:Abcg4
|
UTSW |
9 |
44,190,681 (GRCm39) |
missense |
probably benign |
0.03 |
R7431:Abcg4
|
UTSW |
9 |
44,185,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7452:Abcg4
|
UTSW |
9 |
44,190,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R8463:Abcg4
|
UTSW |
9 |
44,192,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R8960:Abcg4
|
UTSW |
9 |
44,186,063 (GRCm39) |
nonsense |
probably null |
|
R8978:Abcg4
|
UTSW |
9 |
44,192,395 (GRCm39) |
missense |
probably benign |
0.05 |
R9144:Abcg4
|
UTSW |
9 |
44,192,708 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0028:Abcg4
|
UTSW |
9 |
44,185,931 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATTCATGGCAGTCCTCCTGTCTC -3'
(R):5'- CGATGATGCCAGCAAAGTCTTCAAC -3'
Sequencing Primer
(F):5'- cagtcctcctgtctcagcAC -3'
(R):5'- ACCTGTGAGCTGATCTGCC -3'
|
Posted On |
2013-11-18 |