Incidental Mutation 'R5209:Abcg4'
| ID |
403046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg4
|
| Ensembl Gene |
ENSMUSG00000032131 |
| Gene Name |
ATP binding cassette subfamily G member 4 |
| Synonyms |
6430517O04Rik |
| MMRRC Submission |
042784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44186672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 491
(Y491H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000161354]
[ENSMUST00000162783]
|
| AlphaFold |
Q91WA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034648
AA Change: Y491H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: Y491H
| 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 damaging
Transcript: ENSMUST00000161354
AA Change: Y491H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: Y491H
| 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 |
|
| Meta Mutation Damage Score |
0.9139 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,130 (GRCm39) |
V500A |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,274,681 (GRCm39) |
V759L |
possibly damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,292,563 (GRCm39) |
K243* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 103,040,015 (GRCm39) |
D317E |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,634 (GRCm39) |
I462F |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Btbd18 |
A |
G |
2: 84,498,443 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ces1d |
A |
T |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Chmp2a |
C |
A |
7: 12,766,601 (GRCm39) |
V106F |
probably damaging |
Het |
| Cinp |
T |
C |
12: 110,840,494 (GRCm39) |
E219G |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,689,939 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,345,667 (GRCm39) |
S2271A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 77,994,497 (GRCm39) |
L376H |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,442 (GRCm39) |
T17A |
probably benign |
Het |
| Fgd2 |
T |
A |
17: 29,587,350 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
C |
T |
5: 137,955,533 (GRCm39) |
V251I |
probably benign |
Het |
| Gnaz |
T |
G |
10: 74,827,823 (GRCm39) |
F192V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
G |
T |
2: 25,456,935 (GRCm39) |
A614E |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,490 (GRCm39) |
Q713L |
probably damaging |
Het |
| Mettl1 |
T |
C |
10: 126,881,203 (GRCm39) |
V238A |
possibly damaging |
Het |
| Ms4a4c |
G |
A |
19: 11,393,802 (GRCm39) |
G74E |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,230,736 (GRCm39) |
Y113* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,742,995 (GRCm39) |
L1169P |
possibly damaging |
Het |
| Npr3 |
A |
G |
15: 11,848,689 (GRCm39) |
V426A |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,693,721 (GRCm39) |
S88P |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,410 (GRCm39) |
T53A |
probably benign |
Het |
| Or6c202 |
A |
C |
10: 128,996,801 (GRCm39) |
D17E |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,817 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,514 (GRCm39) |
F768S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,166,000 (GRCm39) |
N2077S |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,783,181 (GRCm39) |
P713L |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,043,295 (GRCm39) |
T333A |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,856 (GRCm39) |
T510S |
probably benign |
Het |
| Ptprr |
A |
T |
10: 115,998,514 (GRCm39) |
E208V |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,560 (GRCm39) |
Y194C |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,490,293 (GRCm39) |
|
probably null |
Het |
| Rexo5 |
T |
A |
7: 119,433,522 (GRCm39) |
Y493* |
probably null |
Het |
| Rgs9 |
T |
C |
11: 109,130,420 (GRCm39) |
|
probably null |
Het |
| Rps6ka1 |
A |
T |
4: 133,593,129 (GRCm39) |
V218D |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,116,235 (GRCm39) |
M16K |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,170,459 (GRCm39) |
F395S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,652 (GRCm39) |
T4453A |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,483 (GRCm39) |
I82F |
probably benign |
Het |
| Stam |
T |
A |
2: 14,151,158 (GRCm39) |
I505K |
probably benign |
Het |
| Tesk2 |
G |
A |
4: 116,581,895 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,793 (GRCm39) |
K430R |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,387,740 (GRCm39) |
N34D |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,279,350 (GRCm39) |
C686F |
probably damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,279 (GRCm39) |
T60I |
probably damaging |
Het |
| Zfp652 |
G |
C |
11: 95,654,491 (GRCm39) |
R478P |
possibly 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 |
|
|
R5039:Abcg4
|
UTSW |
9 |
44,192,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGAGCTTGGCTGTTACAGGG -3'
(R):5'- TCAGTCTACAAGGCGGCATG -3'
Sequencing Primer
(F):5'- ACCCCGTGGCAGTTCTTGATG -3'
(R):5'- TCTACAAGGCGGCATGAACAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation