Incidental Mutation 'IGL03058:Abcg3'
| ID |
409328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcg3
|
| Ensembl Gene |
ENSMUSG00000029299 |
| Gene Name |
ATP binding cassette subfamily G member 3 |
| Synonyms |
Abcp2, Mxr2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL03058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
105082923-105130584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105109112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 395
(V395A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
| AlphaFold |
Q99P81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031239
AA Change: V395A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: V395A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_tran
|
64 |
207 |
5.9e-9 |
PFAM |
|
Pfam:ABC2_membrane
|
367 |
578 |
1.8e-29 |
PFAM |
|
transmembrane domain
|
623 |
642 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130644
AA Change: V395A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: V395A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_tran
|
64 |
207 |
7.6e-9 |
PFAM |
|
transmembrane domain
|
386 |
408 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane
|
414 |
548 |
1.9e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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). This protein is a member of the White subfamily. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
| Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
| B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
| Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
| Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
| Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
| Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
| Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
| Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
| Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
| Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
| Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
| Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
| Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
probably benign |
Het |
|
| Other mutations in Abcg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Abcg3
|
APN |
5 |
105,083,878 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01363:Abcg3
|
APN |
5 |
105,096,228 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02097:Abcg3
|
APN |
5 |
105,109,052 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02554:Abcg3
|
APN |
5 |
105,117,318 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02561:Abcg3
|
APN |
5 |
105,125,536 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02974:Abcg3
|
APN |
5 |
105,116,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03153:Abcg3
|
APN |
5 |
105,122,631 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Abcg3
|
APN |
5 |
105,096,256 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0110:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0469:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0510:Abcg3
|
UTSW |
5 |
105,125,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0530:Abcg3
|
UTSW |
5 |
105,083,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0579:Abcg3
|
UTSW |
5 |
105,121,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Abcg3
|
UTSW |
5 |
105,096,223 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1505:Abcg3
|
UTSW |
5 |
105,099,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Abcg3
|
UTSW |
5 |
105,083,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:Abcg3
|
UTSW |
5 |
105,111,421 (GRCm39) |
nonsense |
probably null |
|
|
R1797:Abcg3
|
UTSW |
5 |
105,087,030 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1899:Abcg3
|
UTSW |
5 |
105,086,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1974:Abcg3
|
UTSW |
5 |
105,111,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2136:Abcg3
|
UTSW |
5 |
105,114,680 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2285:Abcg3
|
UTSW |
5 |
105,087,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Abcg3
|
UTSW |
5 |
105,086,046 (GRCm39) |
splice site |
probably benign |
|
|
R4242:Abcg3
|
UTSW |
5 |
105,109,079 (GRCm39) |
missense |
probably benign |
|
|
R4738:Abcg3
|
UTSW |
5 |
105,121,849 (GRCm39) |
missense |
probably benign |
|
|
R5225:Abcg3
|
UTSW |
5 |
105,114,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Abcg3
|
UTSW |
5 |
105,084,465 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5704:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5705:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5785:Abcg3
|
UTSW |
5 |
105,116,036 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6155:Abcg3
|
UTSW |
5 |
105,111,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6309:Abcg3
|
UTSW |
5 |
105,117,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6814:Abcg3
|
UTSW |
5 |
105,083,860 (GRCm39) |
missense |
probably benign |
|
|
R6872:Abcg3
|
UTSW |
5 |
105,083,860 (GRCm39) |
missense |
probably benign |
|
|
R6916:Abcg3
|
UTSW |
5 |
105,122,601 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7217:Abcg3
|
UTSW |
5 |
105,087,094 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7310:Abcg3
|
UTSW |
5 |
105,114,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7343:Abcg3
|
UTSW |
5 |
105,116,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Abcg3
|
UTSW |
5 |
105,114,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7531:Abcg3
|
UTSW |
5 |
105,125,507 (GRCm39) |
missense |
probably benign |
|
|
R7685:Abcg3
|
UTSW |
5 |
105,116,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Abcg3
|
UTSW |
5 |
105,083,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Abcg3
|
UTSW |
5 |
105,125,594 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7942:Abcg3
|
UTSW |
5 |
105,087,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Abcg3
|
UTSW |
5 |
105,100,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9181:Abcg3
|
UTSW |
5 |
105,121,962 (GRCm39) |
missense |
probably benign |
|
|
R9529:Abcg3
|
UTSW |
5 |
105,121,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Abcg3
|
UTSW |
5 |
105,084,483 (GRCm39) |
missense |
probably benign |
|
|
X0022:Abcg3
|
UTSW |
5 |
105,096,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0026:Abcg3
|
UTSW |
5 |
105,086,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation