Incidental Mutation 'IGL01654:Abcg2'
ID |
102932 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcg2
|
Ensembl Gene |
ENSMUSG00000029802 |
Gene Name |
ATP binding cassette subfamily G member 2 (Junior blood group) |
Synonyms |
4930430M16Rik, Bcrp |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01654
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
58561476-58669436 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 58660306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109933
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031822]
[ENSMUST00000114294]
[ENSMUST00000143752]
[ENSMUST00000203146]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031822
|
SMART Domains |
Protein: ENSMUSP00000031822 Gene: ENSMUSG00000029802
Domain | Start | End | E-Value | Type |
AAA
|
71 |
269 |
9.08e-6 |
SMART |
Pfam:ABC2_membrane
|
375 |
586 |
5.4e-42 |
PFAM |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114294
|
SMART Domains |
Protein: ENSMUSP00000109933 Gene: ENSMUSG00000029802
Domain | Start | End | E-Value | Type |
AAA
|
71 |
269 |
9.08e-6 |
SMART |
Pfam:ABC2_membrane
|
375 |
586 |
1.2e-40 |
PFAM |
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143752
|
SMART Domains |
Protein: ENSMUSP00000138608 Gene: ENSMUSG00000029802
Domain | Start | End | E-Value | Type |
AAA
|
71 |
269 |
9.08e-6 |
SMART |
Pfam:ABC2_membrane
|
375 |
573 |
7.2e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145685
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203146
|
SMART Domains |
Protein: ENSMUSP00000145435 Gene: ENSMUSG00000029802
Domain | Start | End | E-Value | Type |
SCOP:d1jj7a_
|
33 |
129 |
7e-8 |
SMART |
Blast:AAA
|
71 |
125 |
3e-32 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is included in 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. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,838 (GRCm39) |
E68V |
probably damaging |
Het |
Abcb1a |
T |
C |
5: 8,765,065 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,762,061 (GRCm39) |
I1252T |
possibly damaging |
Het |
Apol10b |
A |
T |
15: 77,472,996 (GRCm39) |
D19E |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,402,238 (GRCm39) |
|
probably null |
Het |
Bod1l |
T |
C |
5: 41,975,519 (GRCm39) |
T1932A |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 143,027,133 (GRCm39) |
V124A |
probably benign |
Het |
Cd151 |
T |
A |
7: 141,050,275 (GRCm39) |
I170N |
probably benign |
Het |
Ckap5 |
C |
T |
2: 91,407,954 (GRCm39) |
H827Y |
probably benign |
Het |
Clk3 |
C |
T |
9: 57,659,046 (GRCm39) |
V572M |
probably damaging |
Het |
Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
Enpp5 |
A |
G |
17: 44,392,066 (GRCm39) |
D165G |
possibly damaging |
Het |
Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
Fbxw14 |
T |
C |
9: 109,115,648 (GRCm39) |
|
probably benign |
Het |
Fes |
C |
T |
7: 80,036,558 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
T |
11: 76,104,224 (GRCm39) |
L179H |
probably damaging |
Het |
Gm3327 |
A |
G |
14: 44,362,317 (GRCm39) |
E72G |
unknown |
Het |
Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
Lonp2 |
T |
C |
8: 87,440,714 (GRCm39) |
V357A |
probably damaging |
Het |
Mc2r |
A |
G |
18: 68,541,143 (GRCm39) |
I50T |
probably benign |
Het |
Mmp19 |
C |
T |
10: 128,634,389 (GRCm39) |
A310V |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,435,853 (GRCm39) |
R890Q |
probably benign |
Het |
Npdc1 |
T |
C |
2: 25,297,649 (GRCm39) |
S101P |
possibly damaging |
Het |
Phldb1 |
T |
C |
9: 44,629,654 (GRCm39) |
|
probably null |
Het |
Pkd2l1 |
T |
C |
19: 44,142,662 (GRCm39) |
N460S |
probably damaging |
Het |
Pnpo |
A |
G |
11: 96,834,555 (GRCm39) |
|
probably null |
Het |
Prkcq |
A |
T |
2: 11,288,654 (GRCm39) |
T536S |
probably damaging |
Het |
Rft1 |
T |
A |
14: 30,398,837 (GRCm39) |
V269E |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,977,254 (GRCm39) |
I215F |
probably damaging |
Het |
Slc12a5 |
G |
A |
2: 164,815,675 (GRCm39) |
D41N |
possibly damaging |
Het |
Srp68 |
T |
C |
11: 116,138,638 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
T |
C |
8: 55,115,914 (GRCm39) |
T623A |
probably damaging |
Het |
Zfand2a |
A |
G |
5: 139,467,823 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,783,796 (GRCm39) |
Y917C |
probably damaging |
Het |
Zmym6 |
C |
T |
4: 127,017,519 (GRCm39) |
S1008L |
probably damaging |
Het |
|
Other mutations in Abcg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01489:Abcg2
|
APN |
6 |
58,662,808 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02646:Abcg2
|
APN |
6 |
58,662,681 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03342:Abcg2
|
APN |
6 |
58,642,120 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4519001:Abcg2
|
UTSW |
6 |
58,651,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R0092:Abcg2
|
UTSW |
6 |
58,662,762 (GRCm39) |
missense |
probably benign |
0.14 |
R0313:Abcg2
|
UTSW |
6 |
58,649,082 (GRCm39) |
missense |
probably benign |
|
R0742:Abcg2
|
UTSW |
6 |
58,655,311 (GRCm39) |
missense |
probably benign |
0.00 |
R1165:Abcg2
|
UTSW |
6 |
58,655,285 (GRCm39) |
missense |
probably benign |
0.21 |
R1302:Abcg2
|
UTSW |
6 |
58,662,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R1476:Abcg2
|
UTSW |
6 |
58,655,322 (GRCm39) |
missense |
probably benign |
0.06 |
R1523:Abcg2
|
UTSW |
6 |
58,662,679 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2056:Abcg2
|
UTSW |
6 |
58,667,525 (GRCm39) |
missense |
probably benign |
0.20 |
R2057:Abcg2
|
UTSW |
6 |
58,667,525 (GRCm39) |
missense |
probably benign |
0.20 |
R2153:Abcg2
|
UTSW |
6 |
58,661,307 (GRCm39) |
splice site |
probably null |
|
R5636:Abcg2
|
UTSW |
6 |
58,649,041 (GRCm39) |
missense |
probably damaging |
0.98 |
R5723:Abcg2
|
UTSW |
6 |
58,655,336 (GRCm39) |
nonsense |
probably null |
|
R5972:Abcg2
|
UTSW |
6 |
58,649,070 (GRCm39) |
missense |
probably benign |
0.00 |
R6319:Abcg2
|
UTSW |
6 |
58,651,723 (GRCm39) |
missense |
probably benign |
0.03 |
R6896:Abcg2
|
UTSW |
6 |
58,660,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7136:Abcg2
|
UTSW |
6 |
58,661,325 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7387:Abcg2
|
UTSW |
6 |
58,666,609 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8208:Abcg2
|
UTSW |
6 |
58,642,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8414:Abcg2
|
UTSW |
6 |
58,646,221 (GRCm39) |
missense |
probably benign |
0.40 |
R8552:Abcg2
|
UTSW |
6 |
58,646,210 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8919:Abcg2
|
UTSW |
6 |
58,661,326 (GRCm39) |
missense |
probably benign |
0.08 |
R9789:Abcg2
|
UTSW |
6 |
58,641,533 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Abcg2
|
UTSW |
6 |
58,655,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-01-21 |