Incidental Mutation 'IGL01363:Abcg3'
ID |
75815 |
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: 0.061)
|
Stock # |
IGL01363
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
105082923-105130584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105096228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 528
(V528A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031239]
[ENSMUST00000130644]
|
AlphaFold |
Q99P81 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031239
AA Change: V528A
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031239 Gene: ENSMUSG00000029299 AA Change: V528A
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: V498A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120179 Gene: ENSMUSG00000029299 AA Change: V498A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,483 (GRCm39) |
F23S |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,705,184 (GRCm39) |
V1542A |
probably damaging |
Het |
Alkbh3 |
A |
G |
2: 93,833,396 (GRCm39) |
|
probably null |
Het |
Ang4 |
G |
T |
14: 52,001,636 (GRCm39) |
T104K |
probably benign |
Het |
Arhgef3 |
T |
A |
14: 27,123,876 (GRCm39) |
C532* |
probably null |
Het |
Bnip3 |
G |
A |
7: 138,499,777 (GRCm39) |
T70I |
probably benign |
Het |
Cast |
T |
C |
13: 74,852,311 (GRCm39) |
E644G |
possibly damaging |
Het |
Cenpc1 |
A |
T |
5: 86,194,390 (GRCm39) |
C125* |
probably null |
Het |
Crb2 |
C |
A |
2: 37,683,845 (GRCm39) |
R1116S |
probably benign |
Het |
Cyp2c67 |
T |
G |
19: 39,628,411 (GRCm39) |
I178L |
probably damaging |
Het |
Cyp2c68 |
T |
A |
19: 39,691,871 (GRCm39) |
M351L |
probably benign |
Het |
Dusp1 |
G |
A |
17: 26,725,264 (GRCm39) |
P365L |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,559,652 (GRCm39) |
L492P |
probably damaging |
Het |
Igkv8-19 |
T |
C |
6: 70,318,083 (GRCm39) |
S48G |
probably damaging |
Het |
Isyna1 |
G |
A |
8: 71,047,372 (GRCm39) |
V32I |
probably damaging |
Het |
Itgb6 |
T |
A |
2: 60,441,726 (GRCm39) |
N695Y |
possibly damaging |
Het |
Klra8 |
T |
C |
6: 130,092,561 (GRCm39) |
T247A |
probably benign |
Het |
Mak |
G |
A |
13: 41,206,853 (GRCm39) |
|
probably benign |
Het |
Minar2 |
G |
A |
18: 59,205,380 (GRCm39) |
G98D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,685,022 (GRCm39) |
T516S |
possibly damaging |
Het |
Mphosph9 |
G |
T |
5: 124,400,084 (GRCm39) |
T939K |
probably damaging |
Het |
Nfrkb |
A |
G |
9: 31,325,667 (GRCm39) |
T1037A |
possibly damaging |
Het |
Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
Or8c9 |
A |
G |
9: 38,240,999 (GRCm39) |
T39A |
probably benign |
Het |
Pard3b |
A |
G |
1: 62,676,799 (GRCm39) |
Y1011C |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,760,877 (GRCm39) |
V250M |
probably damaging |
Het |
Pgap2 |
T |
G |
7: 101,875,489 (GRCm39) |
M1R |
probably null |
Het |
Phlpp2 |
T |
C |
8: 110,663,729 (GRCm39) |
F923L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,925,470 (GRCm39) |
M739K |
probably benign |
Het |
Pramel1 |
A |
G |
4: 143,123,955 (GRCm39) |
Y210C |
probably benign |
Het |
Pramel27 |
A |
T |
4: 143,579,846 (GRCm39) |
Y477F |
probably benign |
Het |
Raver2 |
A |
G |
4: 100,977,780 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,320,333 (GRCm39) |
L1251F |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,042,238 (GRCm39) |
Y238F |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,088,852 (GRCm39) |
L534P |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,952,713 (GRCm39) |
F1540L |
possibly damaging |
Het |
Tmem200b |
C |
A |
4: 131,649,704 (GRCm39) |
P208Q |
probably benign |
Het |
Tmem236 |
T |
C |
2: 14,179,441 (GRCm39) |
L14P |
probably damaging |
Het |
Tubgcp6 |
A |
T |
15: 88,991,728 (GRCm39) |
I623N |
probably damaging |
Het |
Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,286,020 (GRCm39) |
N173D |
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 |
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 |
IGL03058:Abcg3
|
APN |
5 |
105,109,112 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-10-07 |