Incidental Mutation 'R5521:Abcg4'
ID |
431553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcg4
|
Ensembl Gene |
ENSMUSG00000032131 |
Gene Name |
ATP binding cassette subfamily G member 4 |
Synonyms |
6430517O04Rik |
MMRRC Submission |
043080-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R5521 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 44190980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161408]
[ENSMUST00000161354]
[ENSMUST00000162783]
|
AlphaFold |
Q91WA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034648
|
SMART Domains |
Protein: ENSMUSP00000034648 Gene: ENSMUSG00000032131
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 benign
Transcript: ENSMUST00000161408
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161354
|
SMART Domains |
Protein: ENSMUSP00000124647 Gene: ENSMUSG00000032131
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
Validation Efficiency |
94% (72/77) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
Zfp780b |
C |
A |
7: 27,674,173 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- ACCCAGGGATACGATACTGAC -3'
(R):5'- CACATCTGAACCACAGGAGG -3'
Sequencing Primer
(F):5'- CAGGGATACGATACTGACCTTGTC -3'
(R):5'- TGGAGGAATGCCATTTACCC -3'
|
Posted On |
2016-10-05 |