Incidental Mutation 'R5039:Abcg4'
ID |
395709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg4
|
Ensembl Gene |
ENSMUSG00000032131 |
Gene Name |
ATP binding cassette subfamily G member 4 |
Synonyms |
6430517O04Rik |
MMRRC Submission |
042629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R5039 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 44192863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 161
(A161V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000161408]
[ENSMUST00000162783]
|
AlphaFold |
Q91WA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034648
AA Change: A161V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034648 Gene: ENSMUSG00000032131 AA Change: A161V
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 damaging
Transcript: ENSMUST00000161354
AA Change: A161V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124647 Gene: ENSMUSG00000032131 AA Change: A161V
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 |
0.1779 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (61/61) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
T |
C |
2: 25,164,808 (GRCm39) |
I64T |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,269,961 (GRCm39) |
D396G |
probably benign |
Het |
Ark2c |
A |
G |
18: 77,550,608 (GRCm39) |
S107P |
probably damaging |
Het |
Axl |
C |
T |
7: 25,485,340 (GRCm39) |
V163M |
probably damaging |
Het |
Blm |
G |
A |
7: 80,155,621 (GRCm39) |
P353S |
possibly damaging |
Het |
Btaf1 |
T |
C |
19: 36,968,162 (GRCm39) |
Y1116H |
probably benign |
Het |
Ccdc18 |
T |
A |
5: 108,306,514 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
C |
19: 4,890,429 (GRCm39) |
|
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
Ctr9 |
C |
A |
7: 110,642,064 (GRCm39) |
H297Q |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dnmt3l |
T |
C |
10: 77,888,734 (GRCm39) |
|
probably null |
Het |
Dock4 |
C |
A |
12: 40,867,745 (GRCm39) |
N1440K |
probably damaging |
Het |
Etnk1 |
T |
A |
6: 143,141,043 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
T |
13: 49,063,726 (GRCm39) |
|
probably null |
Het |
Fanca |
T |
C |
8: 124,010,785 (GRCm39) |
D908G |
probably benign |
Het |
Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
Gm3633 |
A |
C |
14: 42,461,161 (GRCm39) |
N42K |
possibly damaging |
Het |
Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Gpr139 |
A |
G |
7: 118,744,165 (GRCm39) |
V140A |
probably benign |
Het |
Ighv1-62-3 |
G |
T |
12: 115,425,014 (GRCm39) |
T13K |
probably benign |
Het |
Itgb2l |
T |
C |
16: 96,226,205 (GRCm39) |
T629A |
possibly damaging |
Het |
Kcnb2 |
T |
C |
1: 15,779,724 (GRCm39) |
S199P |
probably damaging |
Het |
Kdm1b |
G |
A |
13: 47,230,962 (GRCm39) |
G663D |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,052,888 (GRCm39) |
D407G |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,405,013 (GRCm39) |
K391R |
probably damaging |
Het |
Magi3 |
A |
T |
3: 104,013,107 (GRCm39) |
S127T |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,477,955 (GRCm39) |
D1759V |
probably damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Myrfl |
T |
C |
10: 116,658,616 (GRCm39) |
D447G |
probably damaging |
Het |
Ndufb7 |
A |
G |
8: 84,298,094 (GRCm39) |
|
probably benign |
Het |
Nt5e |
T |
A |
9: 88,245,634 (GRCm39) |
N301K |
probably benign |
Het |
Or10d4b |
A |
T |
9: 39,534,856 (GRCm39) |
T146S |
possibly damaging |
Het |
Or8g27 |
T |
A |
9: 39,129,410 (GRCm39) |
Y252* |
probably null |
Het |
Pcdh10 |
A |
G |
3: 45,336,296 (GRCm39) |
N870S |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,709,305 (GRCm39) |
V670A |
probably benign |
Het |
Phf8-ps |
A |
C |
17: 33,286,734 (GRCm39) |
C23G |
probably damaging |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Ric3 |
G |
C |
7: 108,637,930 (GRCm39) |
S274R |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,031,195 (GRCm39) |
T1540A |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,268,805 (GRCm39) |
M1464L |
probably benign |
Het |
Slc41a3 |
A |
G |
6: 90,603,399 (GRCm39) |
Y140C |
probably damaging |
Het |
Ssb |
A |
T |
2: 69,696,581 (GRCm39) |
E38D |
possibly damaging |
Het |
Syt14 |
A |
T |
1: 192,709,292 (GRCm39) |
I16N |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,352,878 (GRCm39) |
T973A |
probably damaging |
Het |
Tial1 |
T |
C |
7: 128,045,692 (GRCm39) |
|
probably benign |
Het |
Tnfrsf1a |
A |
G |
6: 125,337,675 (GRCm39) |
T89A |
possibly damaging |
Het |
Trpv5 |
T |
C |
6: 41,652,879 (GRCm39) |
Y98C |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,062,267 (GRCm39) |
S265T |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,089,013 (GRCm39) |
D1006G |
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 |
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 |
|
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'- TAAAGCATTGCCCCTGAAGC -3'
(R):5'- AACGTGGCTTTGGTGCTCAC -3'
Sequencing Primer
(F):5'- ATTGCCCCTGAAGCCCATG -3'
(R):5'- TGGTGCTCACTGCCAAC -3'
|
Posted On |
2016-06-21 |