Incidental Mutation 'R5492:Abcg4'
| ID |
432124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcg4
|
| Ensembl Gene |
ENSMUSG00000032131 |
| Gene Name |
ATP binding cassette subfamily G member 4 |
| Synonyms |
6430517O04Rik |
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44189355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 381
(T381A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000161408]
[ENSMUST00000162783]
|
| AlphaFold |
Q91WA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034648
AA Change: T381A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: T381A
| 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: T381A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: T381A
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
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 |
|
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 |
|
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'- TGTTTCAGGCCAAGGGAGTG -3'
(R):5'- AATTCAGAGCAGCTCAGGG -3'
Sequencing Primer
(F):5'- TGGGAGGTGGAGTAGAGGTCAC -3'
(R):5'- AGGCTCCTCCTTCTGCAGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation