Incidental Mutation 'IGL02902:Abcc1'
ID |
363640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcc1
|
Ensembl Gene |
ENSMUSG00000023088 |
Gene Name |
ATP-binding cassette, sub-family C member 1 |
Synonyms |
Mdrap, Mrp1, MRP, Abcc1b, Abcc1a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
IGL02902
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14240991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 516
(L516P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100167]
[ENSMUST00000130671]
[ENSMUST00000133454]
[ENSMUST00000147759]
|
AlphaFold |
O35379 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100167
AA Change: L516P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: L516P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
94 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
low complexity region
|
279 |
290 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
326 |
597 |
7.8e-44 |
PFAM |
AAA
|
670 |
845 |
4.07e-8 |
SMART |
Pfam:ABC_membrane
|
971 |
1243 |
3e-52 |
PFAM |
AAA
|
1316 |
1501 |
5.8e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130671
AA Change: L516P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116714 Gene: ENSMUSG00000023088 AA Change: L516P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
94 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
low complexity region
|
279 |
290 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
326 |
597 |
1.6e-48 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133454
AA Change: L516P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122656 Gene: ENSMUSG00000023088 AA Change: L516P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
94 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
low complexity region
|
279 |
290 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
326 |
597 |
1.6e-48 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147759
AA Change: L516P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115627 Gene: ENSMUSG00000023088 AA Change: L516P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
77 |
94 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
low complexity region
|
279 |
290 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
326 |
597 |
1.6e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156089
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The membrane-associated 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein plays an essential role in the defense against toxic compounds and serves as the major high-affinity transporter of leukotriene C4. The encoded protein may also play an essential role in steroid hormone homeostasis as a transporter for steroid hormones and their metabolites. [provided by RefSeq, Nov 2011] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
G |
T |
1: 85,974,087 (GRCm39) |
V135F |
possibly damaging |
Het |
Aatk |
T |
C |
11: 119,902,603 (GRCm39) |
T541A |
probably benign |
Het |
Actl6a |
T |
A |
3: 32,776,791 (GRCm39) |
V350E |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,674,222 (GRCm39) |
K245E |
possibly damaging |
Het |
Agr3 |
T |
C |
12: 35,996,915 (GRCm39) |
V63A |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,083,383 (GRCm39) |
M1162K |
probably damaging |
Het |
Casq2 |
T |
A |
3: 101,994,113 (GRCm39) |
C53* |
probably null |
Het |
Ccdc181 |
T |
C |
1: 164,107,470 (GRCm39) |
V51A |
probably benign |
Het |
Cd101 |
A |
G |
3: 100,926,310 (GRCm39) |
|
probably benign |
Het |
Csdc2 |
T |
C |
15: 81,832,801 (GRCm39) |
V69A |
probably benign |
Het |
Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
Dnph1 |
A |
G |
17: 46,809,427 (GRCm39) |
|
probably benign |
Het |
Egf |
T |
C |
3: 129,474,796 (GRCm39) |
T1124A |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,371 (GRCm39) |
E338G |
possibly damaging |
Het |
Grb14 |
A |
C |
2: 64,768,762 (GRCm39) |
L98R |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,026,224 (GRCm39) |
S77G |
possibly damaging |
Het |
Helb |
A |
G |
10: 119,925,390 (GRCm39) |
S996P |
probably benign |
Het |
Huwe1 |
A |
G |
X: 150,669,762 (GRCm39) |
E1405G |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,617 (GRCm39) |
I128T |
probably benign |
Het |
Ift140 |
T |
A |
17: 25,309,736 (GRCm39) |
Y1089N |
probably damaging |
Het |
Ift56 |
A |
C |
6: 38,402,097 (GRCm39) |
S530R |
probably benign |
Het |
Il1r1 |
A |
T |
1: 40,341,569 (GRCm39) |
H324L |
probably benign |
Het |
Irx1 |
C |
T |
13: 72,107,974 (GRCm39) |
R236H |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,323,530 (GRCm39) |
V1185A |
probably benign |
Het |
Kif19a |
T |
C |
11: 114,676,396 (GRCm39) |
V450A |
possibly damaging |
Het |
Krtap21-1 |
G |
T |
16: 89,200,446 (GRCm39) |
Y65* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,176,693 (GRCm39) |
N1704K |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,047,335 (GRCm39) |
|
probably benign |
Het |
Meis2 |
T |
A |
2: 115,893,804 (GRCm39) |
H36L |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,385,456 (GRCm39) |
N124S |
probably damaging |
Het |
Mmp20 |
A |
G |
9: 7,654,171 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
G |
16: 32,569,212 (GRCm39) |
T91A |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 70,119,745 (GRCm39) |
V935E |
probably benign |
Het |
Ndufa7 |
T |
C |
17: 34,048,632 (GRCm39) |
|
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,405 (GRCm39) |
E366G |
possibly damaging |
Het |
Nobox |
A |
T |
6: 43,282,617 (GRCm39) |
N263K |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,018,890 (GRCm39) |
D684G |
probably damaging |
Het |
Odr4 |
C |
A |
1: 150,260,179 (GRCm39) |
|
probably null |
Het |
Or2t1 |
A |
G |
14: 14,328,789 (GRCm38) |
H226R |
probably benign |
Het |
Or4c12b |
T |
A |
2: 89,647,508 (GRCm39) |
Y273* |
probably null |
Het |
Or5p69 |
C |
A |
7: 107,967,336 (GRCm39) |
T213K |
probably damaging |
Het |
Or5w13 |
T |
C |
2: 87,523,344 (GRCm39) |
N294S |
probably damaging |
Het |
Or6aa1 |
T |
C |
7: 86,043,743 (GRCm39) |
|
probably benign |
Het |
Plau |
A |
C |
14: 20,889,965 (GRCm39) |
D270A |
possibly damaging |
Het |
Pof1b |
T |
C |
X: 111,558,809 (GRCm39) |
|
probably null |
Het |
Pramel23 |
A |
G |
4: 143,424,913 (GRCm39) |
C177R |
probably damaging |
Het |
Prtn3 |
A |
T |
10: 79,717,767 (GRCm39) |
|
probably null |
Het |
Ptges3 |
T |
A |
10: 127,904,616 (GRCm39) |
D26E |
probably benign |
Het |
Pxmp2 |
T |
C |
5: 110,429,160 (GRCm39) |
E99G |
probably benign |
Het |
Rasgef1a |
A |
G |
6: 118,060,068 (GRCm39) |
R106G |
probably benign |
Het |
Rnf208 |
T |
C |
2: 25,133,774 (GRCm39) |
V156A |
probably benign |
Het |
Rps6ka1 |
A |
T |
4: 133,599,292 (GRCm39) |
I45N |
possibly damaging |
Het |
Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
Rsbn1 |
G |
T |
3: 103,860,972 (GRCm39) |
C466F |
possibly damaging |
Het |
Shkbp1 |
A |
T |
7: 27,042,141 (GRCm39) |
C605S |
probably damaging |
Het |
Slc2a10 |
G |
A |
2: 165,360,142 (GRCm39) |
D531N |
probably benign |
Het |
Sox13 |
A |
G |
1: 133,317,204 (GRCm39) |
L143P |
probably damaging |
Het |
Stx2 |
C |
T |
5: 129,069,285 (GRCm39) |
R142Q |
probably damaging |
Het |
Tanc1 |
T |
A |
2: 59,623,431 (GRCm39) |
|
probably benign |
Het |
Tubgcp5 |
C |
T |
7: 55,456,355 (GRCm39) |
Q316* |
probably null |
Het |
Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
Unc5d |
G |
A |
8: 29,365,634 (GRCm39) |
T117I |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,314,337 (GRCm39) |
I126V |
probably benign |
Het |
Zfp410 |
T |
A |
12: 84,378,594 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Abcc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Abcc1
|
APN |
16 |
14,278,847 (GRCm39) |
missense |
probably benign |
0.34 |
IGL00094:Abcc1
|
APN |
16 |
14,288,398 (GRCm39) |
missense |
probably null |
0.00 |
IGL00475:Abcc1
|
APN |
16 |
14,254,437 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00516:Abcc1
|
APN |
16 |
14,231,176 (GRCm39) |
nonsense |
probably null |
|
IGL00765:Abcc1
|
APN |
16 |
14,229,372 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00792:Abcc1
|
APN |
16 |
14,228,790 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01678:Abcc1
|
APN |
16 |
14,222,883 (GRCm39) |
missense |
probably null |
0.96 |
IGL01683:Abcc1
|
APN |
16 |
14,214,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01955:Abcc1
|
APN |
16 |
14,228,659 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02048:Abcc1
|
APN |
16 |
14,229,383 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02345:Abcc1
|
APN |
16 |
14,214,215 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02366:Abcc1
|
APN |
16 |
14,285,843 (GRCm39) |
splice site |
probably benign |
|
IGL02431:Abcc1
|
APN |
16 |
14,237,598 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02480:Abcc1
|
APN |
16 |
14,221,869 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02651:Abcc1
|
APN |
16 |
14,283,990 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03101:Abcc1
|
APN |
16 |
14,207,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03230:Abcc1
|
APN |
16 |
14,275,811 (GRCm39) |
missense |
probably benign |
|
IGL03308:Abcc1
|
APN |
16 |
14,288,475 (GRCm39) |
missense |
possibly damaging |
0.55 |
gloom
|
UTSW |
16 |
14,229,480 (GRCm39) |
missense |
probably damaging |
1.00 |
loom
|
UTSW |
16 |
14,290,794 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4544001:Abcc1
|
UTSW |
16 |
14,222,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Abcc1
|
UTSW |
16 |
14,228,791 (GRCm39) |
missense |
probably damaging |
0.98 |
R0594:Abcc1
|
UTSW |
16 |
14,207,744 (GRCm39) |
missense |
probably benign |
0.05 |
R0894:Abcc1
|
UTSW |
16 |
14,283,001 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0928:Abcc1
|
UTSW |
16 |
14,207,849 (GRCm39) |
critical splice donor site |
probably null |
|
R1367:Abcc1
|
UTSW |
16 |
14,261,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R1496:Abcc1
|
UTSW |
16 |
14,266,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Abcc1
|
UTSW |
16 |
14,231,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Abcc1
|
UTSW |
16 |
14,283,001 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1834:Abcc1
|
UTSW |
16 |
14,240,981 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1847:Abcc1
|
UTSW |
16 |
14,263,313 (GRCm39) |
missense |
probably benign |
0.02 |
R1959:Abcc1
|
UTSW |
16 |
14,214,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Abcc1
|
UTSW |
16 |
14,214,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Abcc1
|
UTSW |
16 |
14,279,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R2224:Abcc1
|
UTSW |
16 |
14,289,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Abcc1
|
UTSW |
16 |
14,285,787 (GRCm39) |
missense |
probably damaging |
0.97 |
R2513:Abcc1
|
UTSW |
16 |
14,290,873 (GRCm39) |
splice site |
probably null |
|
R2876:Abcc1
|
UTSW |
16 |
14,275,824 (GRCm39) |
missense |
probably benign |
|
R3003:Abcc1
|
UTSW |
16 |
14,254,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R3941:Abcc1
|
UTSW |
16 |
14,214,263 (GRCm39) |
missense |
probably benign |
0.00 |
R4119:Abcc1
|
UTSW |
16 |
14,211,877 (GRCm39) |
missense |
probably benign |
0.43 |
R4191:Abcc1
|
UTSW |
16 |
14,207,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Abcc1
|
UTSW |
16 |
14,278,857 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4428:Abcc1
|
UTSW |
16 |
14,263,164 (GRCm39) |
missense |
probably damaging |
0.97 |
R4589:Abcc1
|
UTSW |
16 |
14,211,895 (GRCm39) |
missense |
probably benign |
0.00 |
R4779:Abcc1
|
UTSW |
16 |
14,228,635 (GRCm39) |
missense |
probably benign |
0.35 |
R5027:Abcc1
|
UTSW |
16 |
14,221,917 (GRCm39) |
critical splice donor site |
probably null |
|
R5275:Abcc1
|
UTSW |
16 |
14,284,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Abcc1
|
UTSW |
16 |
14,278,996 (GRCm39) |
missense |
probably benign |
0.02 |
R5490:Abcc1
|
UTSW |
16 |
14,228,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Abcc1
|
UTSW |
16 |
14,278,842 (GRCm39) |
missense |
probably benign |
0.18 |
R5641:Abcc1
|
UTSW |
16 |
14,289,877 (GRCm39) |
missense |
probably benign |
0.00 |
R5642:Abcc1
|
UTSW |
16 |
14,261,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Abcc1
|
UTSW |
16 |
14,284,901 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5916:Abcc1
|
UTSW |
16 |
14,283,006 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6112:Abcc1
|
UTSW |
16 |
14,278,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Abcc1
|
UTSW |
16 |
14,282,920 (GRCm39) |
missense |
probably damaging |
0.97 |
R6464:Abcc1
|
UTSW |
16 |
14,265,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R6950:Abcc1
|
UTSW |
16 |
14,229,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R7024:Abcc1
|
UTSW |
16 |
14,231,247 (GRCm39) |
critical splice donor site |
probably null |
|
R7115:Abcc1
|
UTSW |
16 |
14,255,589 (GRCm39) |
missense |
probably benign |
0.11 |
R7187:Abcc1
|
UTSW |
16 |
14,284,861 (GRCm39) |
missense |
probably benign |
|
R7298:Abcc1
|
UTSW |
16 |
14,214,336 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7342:Abcc1
|
UTSW |
16 |
14,283,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R7474:Abcc1
|
UTSW |
16 |
14,290,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7488:Abcc1
|
UTSW |
16 |
14,207,763 (GRCm39) |
nonsense |
probably null |
|
R7583:Abcc1
|
UTSW |
16 |
14,221,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R7619:Abcc1
|
UTSW |
16 |
14,263,283 (GRCm39) |
missense |
probably damaging |
0.96 |
R7971:Abcc1
|
UTSW |
16 |
14,266,443 (GRCm39) |
missense |
probably benign |
|
R8048:Abcc1
|
UTSW |
16 |
14,228,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R8138:Abcc1
|
UTSW |
16 |
14,290,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R8159:Abcc1
|
UTSW |
16 |
14,290,794 (GRCm39) |
missense |
probably damaging |
0.96 |
R8319:Abcc1
|
UTSW |
16 |
14,214,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Abcc1
|
UTSW |
16 |
14,214,225 (GRCm39) |
missense |
probably benign |
0.00 |
R8980:Abcc1
|
UTSW |
16 |
14,278,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R9480:Abcc1
|
UTSW |
16 |
14,211,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9519:Abcc1
|
UTSW |
16 |
14,207,681 (GRCm39) |
missense |
probably benign |
|
R9653:Abcc1
|
UTSW |
16 |
14,214,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Abcc1
|
UTSW |
16 |
14,254,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R9725:Abcc1
|
UTSW |
16 |
14,290,797 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9786:Abcc1
|
UTSW |
16 |
14,222,927 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Abcc1
|
UTSW |
16 |
14,277,766 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Abcc1
|
UTSW |
16 |
14,228,673 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Abcc1
|
UTSW |
16 |
14,229,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |