Incidental Mutation 'IGL02882:Abcg4'
ID |
362844 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcg4
|
Ensembl Gene |
ENSMUSG00000032131 |
Gene Name |
ATP binding cassette subfamily G member 4 |
Synonyms |
6430517O04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
IGL02882
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 44188786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 469
(L469*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000162783]
[ENSMUST00000161408]
|
AlphaFold |
Q91WA9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034648
AA Change: L469*
|
SMART Domains |
Protein: ENSMUSP00000034648 Gene: ENSMUSG00000032131 AA Change: L469*
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 |
noncoding transcript
Transcript: ENSMUST00000161206
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161354
AA Change: L469*
|
SMART Domains |
Protein: ENSMUSP00000124647 Gene: ENSMUSG00000032131 AA Change: L469*
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 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161408
|
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 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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
Plekhd1 |
G |
A |
12: 80,765,781 (GRCm39) |
|
probably null |
Het |
Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
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 |
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 |
R1084:Abcg4
|
UTSW |
9 |
44,188,766 (GRCm39) |
missense |
probably benign |
0.27 |
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 |
|
|
Posted On |
2015-12-18 |