Incidental Mutation 'R4901:Abcg4'
| ID |
376166 |
| Institutional Source |
Beutler Lab
|
| 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: 0.188)
|
| Stock # |
R4901 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44184485-44199912 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 44188954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034648]
[ENSMUST00000160384]
[ENSMUST00000161354]
[ENSMUST00000161354]
[ENSMUST00000162783]
[ENSMUST00000161408]
|
| AlphaFold |
Q91WA9 |
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161408
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arg2 |
T |
C |
12: 79,194,485 (GRCm39) |
V103A |
probably damaging |
Het |
| Bicra |
T |
A |
7: 15,721,526 (GRCm39) |
T664S |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 107,001,686 (GRCm39) |
Y475* |
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,857 (GRCm39) |
I445V |
probably benign |
Het |
| Ccdc110 |
G |
A |
8: 46,396,437 (GRCm39) |
R776Q |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,727,894 (GRCm39) |
N4S |
probably damaging |
Het |
| Ccni |
G |
A |
5: 93,331,003 (GRCm39) |
R323W |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,314,303 (GRCm39) |
M1241L |
possibly damaging |
Het |
| Cpd |
T |
C |
11: 76,681,707 (GRCm39) |
I1145M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,367,323 (GRCm39) |
D265V |
probably benign |
Het |
| Dennd2a |
T |
C |
6: 39,499,621 (GRCm39) |
T315A |
probably benign |
Het |
| Dgkz |
T |
A |
2: 91,767,076 (GRCm39) |
Q905L |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,059,688 (GRCm39) |
|
probably null |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Gm136 |
G |
A |
4: 34,746,580 (GRCm39) |
Q144* |
probably null |
Het |
| Gon4l |
T |
C |
3: 88,815,458 (GRCm39) |
V2008A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Isyna1 |
A |
T |
8: 71,049,246 (GRCm39) |
H414L |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,911,836 (GRCm39) |
Y233C |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,139 (GRCm39) |
I132F |
probably damaging |
Het |
| Klre1 |
A |
T |
6: 129,561,188 (GRCm39) |
H183L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,711,657 (GRCm39) |
T3188A |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,018,841 (GRCm39) |
L198* |
probably null |
Het |
| Mt4 |
A |
C |
8: 94,864,912 (GRCm39) |
T29P |
possibly damaging |
Het |
| Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,314,659 (GRCm39) |
Q269R |
possibly damaging |
Het |
| Or4p23 |
C |
G |
2: 88,577,231 (GRCm39) |
|
probably null |
Het |
| Or51e1 |
A |
G |
7: 102,359,405 (GRCm39) |
H313R |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,435,112 (GRCm39) |
I421V |
probably null |
Het |
| Pde3b |
A |
T |
7: 114,107,425 (GRCm39) |
T519S |
probably damaging |
Het |
| Phf21a |
T |
A |
2: 92,187,346 (GRCm39) |
C178* |
probably null |
Het |
| Phtf2 |
A |
G |
5: 21,010,722 (GRCm39) |
S88P |
possibly damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,435,982 (GRCm39) |
M394V |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,934,027 (GRCm39) |
P752S |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,822,037 (GRCm39) |
G343V |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,272 (GRCm39) |
I140V |
possibly damaging |
Het |
| Ppp6r3 |
C |
A |
19: 3,517,229 (GRCm39) |
V75L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,524,275 (GRCm39) |
H486L |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,877,056 (GRCm39) |
T807M |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,821,111 (GRCm39) |
Y439* |
probably null |
Het |
| Rbm44 |
A |
G |
1: 91,081,050 (GRCm39) |
T413A |
probably benign |
Het |
| Rnf135 |
T |
C |
11: 80,089,662 (GRCm39) |
C333R |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,680,226 (GRCm39) |
V309A |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,701 (GRCm39) |
S70G |
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,355,908 (GRCm39) |
K192* |
probably null |
Het |
| Sft2d1rt |
A |
G |
11: 45,942,656 (GRCm39) |
S156P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,506 (GRCm39) |
I756V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,648 (GRCm39) |
V516A |
probably damaging |
Het |
| Sult2a5 |
T |
A |
7: 13,359,188 (GRCm39) |
C55S |
probably benign |
Het |
| Tars3 |
C |
T |
7: 65,341,042 (GRCm39) |
T783M |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,172,805 (GRCm39) |
I1819N |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,086,631 (GRCm39) |
F1057L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,418 (GRCm39) |
I12835F |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,617,834 (GRCm39) |
D185E |
probably benign |
Het |
| Vmn2r74 |
G |
T |
7: 85,605,199 (GRCm39) |
S483* |
probably null |
Het |
| Xpo1 |
A |
T |
11: 23,231,327 (GRCm39) |
I304F |
possibly damaging |
Het |
| Zc3h11a |
A |
G |
1: 133,552,449 (GRCm39) |
S553P |
probably benign |
Het |
| Zdhhc1 |
A |
G |
8: 106,199,484 (GRCm39) |
S402P |
probably benign |
Het |
| Zwilch |
T |
C |
9: 64,070,028 (GRCm39) |
Y101C |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGTCTTGGCCAAGTAATAGGC -3'
(R):5'- ACTCCCTTGGCCTGAAACAC -3'
Sequencing Primer
(F):5'- AGGCTTTGAGAGTATACCAGTAGTTC -3'
(R):5'- TTGGCCTGAAACACACATTTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation