Incidental Mutation 'IGL02309:Abcg4'
| ID |
287715 |
| 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 # |
IGL02309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44193125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 111
(F111S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000162783]
[ENSMUST00000161408]
|
| AlphaFold |
Q91WA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034648
AA Change: F111S
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: F111S
| 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: ENSMUST00000161354
AA Change: F111S
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: F111S
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
C |
A |
10: 42,330,374 (GRCm39) |
V98F |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,353,210 (GRCm39) |
D191E |
possibly damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,629 (GRCm39) |
K354E |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,078,979 (GRCm39) |
M323K |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,356,827 (GRCm39) |
|
probably benign |
Het |
| Asl |
A |
G |
5: 130,048,622 (GRCm39) |
Y30H |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,510 (GRCm39) |
H1173Q |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,327 (GRCm39) |
R2472H |
probably damaging |
Het |
| Clip1 |
T |
A |
5: 123,755,763 (GRCm39) |
H950L |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,660 (GRCm39) |
T222S |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,829 (GRCm39) |
N273Y |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,839,304 (GRCm39) |
S214T |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,284 (GRCm39) |
M318K |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,790,351 (GRCm39) |
D1E |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,480,928 (GRCm39) |
T443I |
probably benign |
Het |
| Gm2381 |
C |
T |
7: 42,472,033 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,975 (GRCm39) |
I178F |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,713,470 (GRCm39) |
E804K |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,465,812 (GRCm39) |
L421P |
probably damaging |
Het |
| Haghl |
T |
G |
17: 26,003,638 (GRCm39) |
H56P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,893,700 (GRCm39) |
L489P |
probably damaging |
Het |
| Ighv6-6 |
A |
T |
12: 114,398,534 (GRCm39) |
H77Q |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,085,883 (GRCm39) |
S243P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,616 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,880 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,091,385 (GRCm39) |
Q308R |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,361,491 (GRCm39) |
E223K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,310,352 (GRCm39) |
F407L |
probably damaging |
Het |
| Mndal |
C |
T |
1: 173,702,021 (GRCm39) |
G94R |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,175 (GRCm39) |
N101S |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,234,705 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,206 (GRCm39) |
I293K |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,729 (GRCm39) |
N52S |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,348 (GRCm39) |
N294D |
probably damaging |
Het |
| Pknox1 |
T |
G |
17: 31,809,683 (GRCm39) |
F96V |
probably benign |
Het |
| Psg25 |
T |
G |
7: 18,260,349 (GRCm39) |
Q183P |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,307 (GRCm39) |
Y530C |
probably damaging |
Het |
| Sema3e |
T |
A |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,266 (GRCm39) |
G46R |
unknown |
Het |
| Sidt1 |
T |
C |
16: 44,075,343 (GRCm39) |
I672V |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,275,166 (GRCm39) |
T238A |
possibly damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,618,007 (GRCm39) |
S486T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,750,898 (GRCm39) |
H340R |
probably benign |
Het |
| Smoc2 |
C |
A |
17: 14,595,789 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,801 (GRCm39) |
Y102C |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,821,744 (GRCm39) |
R20G |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,466 (GRCm39) |
|
noncoding transcript |
Het |
| Trim12c |
T |
A |
7: 103,994,163 (GRCm39) |
E230D |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,173,006 (GRCm39) |
N796K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,443 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
A |
T |
11: 44,349,155 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,021,026 (GRCm39) |
T11M |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,113 (GRCm39) |
M95K |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,466,820 (GRCm39) |
T1160A |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation