Incidental Mutation 'IGL00094:Abcc1'
ID |
868 |
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 # |
IGL00094
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14288398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1341
(N1341S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100167]
[ENSMUST00000130671]
[ENSMUST00000133454]
[ENSMUST00000147759]
|
AlphaFold |
O35379 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100167
AA Change: N1341S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: N1341S
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 benign
Transcript: ENSMUST00000130671
|
SMART Domains |
Protein: ENSMUSP00000116714 Gene: ENSMUSG00000023088
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 benign
Transcript: ENSMUST00000133454
|
SMART Domains |
Protein: ENSMUSP00000122656 Gene: ENSMUSG00000023088
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: ENSMUST00000134960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146032
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147759
|
SMART Domains |
Protein: ENSMUSP00000115627 Gene: ENSMUSG00000023088
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 |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,591,254 (GRCm39) |
N547K |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,247,443 (GRCm39) |
T2397A |
probably benign |
Het |
Adcy9 |
T |
A |
16: 4,122,446 (GRCm39) |
I535L |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,187,763 (GRCm39) |
S1726G |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,577,813 (GRCm39) |
M5V |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,889,019 (GRCm39) |
N299K |
probably benign |
Het |
B3gnt2 |
C |
T |
11: 22,786,151 (GRCm39) |
V346I |
probably benign |
Het |
Ceacam14 |
G |
A |
7: 17,548,062 (GRCm39) |
V51I |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,634,682 (GRCm39) |
D812G |
probably damaging |
Het |
Cfap97d1 |
A |
G |
11: 101,881,646 (GRCm39) |
E114G |
possibly damaging |
Het |
Chrna9 |
T |
C |
5: 66,126,600 (GRCm39) |
V118A |
probably benign |
Het |
Cpsf7 |
A |
G |
19: 10,517,151 (GRCm39) |
R418G |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,052,075 (GRCm39) |
Y215H |
probably damaging |
Het |
Dcaf5 |
A |
C |
12: 80,386,097 (GRCm39) |
N676K |
probably benign |
Het |
Dld |
A |
T |
12: 31,385,576 (GRCm39) |
M255K |
probably benign |
Het |
Esr2 |
A |
T |
12: 76,180,670 (GRCm39) |
L417H |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,820,730 (GRCm39) |
S5488T |
probably benign |
Het |
Gatb |
A |
T |
3: 85,509,227 (GRCm39) |
I130L |
possibly damaging |
Het |
Gbp9 |
T |
C |
5: 105,229,130 (GRCm39) |
K506E |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,229,568 (GRCm39) |
N703S |
probably damaging |
Het |
Itgb3 |
T |
A |
11: 104,524,410 (GRCm39) |
V182E |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,617,426 (GRCm39) |
Y582F |
probably damaging |
Het |
Lancl2 |
T |
A |
6: 57,701,522 (GRCm39) |
|
probably benign |
Het |
Lgals3 |
A |
G |
14: 47,622,175 (GRCm39) |
K197R |
probably benign |
Het |
Lipe |
T |
C |
7: 25,082,977 (GRCm39) |
T767A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,338,123 (GRCm39) |
D1219V |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,806,698 (GRCm39) |
C116S |
probably benign |
Het |
Mcm5 |
T |
G |
8: 75,851,573 (GRCm39) |
|
probably null |
Het |
Mtpn |
G |
T |
6: 35,499,711 (GRCm39) |
T31K |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,460,486 (GRCm39) |
Y1494N |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,274,350 (GRCm39) |
E498* |
probably null |
Het |
Nos1 |
T |
G |
5: 118,048,165 (GRCm39) |
S657A |
probably damaging |
Het |
Nr3c1 |
A |
T |
18: 39,561,661 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,271 (GRCm39) |
V254E |
probably damaging |
Het |
Or13a17 |
A |
T |
7: 140,271,349 (GRCm39) |
H177L |
probably damaging |
Het |
Or4c127 |
T |
A |
2: 89,833,365 (GRCm39) |
I205N |
possibly damaging |
Het |
Or7g32 |
T |
A |
9: 19,408,155 (GRCm39) |
I37N |
probably damaging |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,299 (GRCm39) |
V36G |
possibly damaging |
Het |
Or9i1 |
A |
T |
19: 13,839,150 (GRCm39) |
|
probably benign |
Het |
Osbp2 |
T |
G |
11: 3,661,848 (GRCm39) |
S735R |
probably benign |
Het |
Otop3 |
A |
T |
11: 115,235,279 (GRCm39) |
T304S |
probably benign |
Het |
Pcdhac2 |
A |
T |
18: 37,278,128 (GRCm39) |
L369F |
probably damaging |
Het |
Pick1 |
T |
C |
15: 79,131,457 (GRCm39) |
|
probably benign |
Het |
Prlhr |
A |
T |
19: 60,456,119 (GRCm39) |
V149E |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,280,598 (GRCm39) |
|
probably benign |
Het |
Rab19 |
A |
T |
6: 39,365,132 (GRCm39) |
|
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,262,776 (GRCm39) |
W5R |
probably damaging |
Het |
Rfx4 |
T |
A |
10: 84,676,063 (GRCm39) |
L44Q |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,661 (GRCm39) |
T760A |
probably damaging |
Het |
Shcbp1 |
A |
C |
8: 4,804,258 (GRCm39) |
Y145* |
probably null |
Het |
Snx31 |
T |
A |
15: 36,545,761 (GRCm39) |
|
probably null |
Het |
Spopl |
A |
T |
2: 23,427,643 (GRCm39) |
V163E |
possibly damaging |
Het |
Sqor |
T |
C |
2: 122,629,463 (GRCm39) |
I107T |
probably damaging |
Het |
Tcte1 |
T |
C |
17: 45,845,854 (GRCm39) |
F153L |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,123,238 (GRCm39) |
H121L |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,643 (GRCm39) |
Y10* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,904,603 (GRCm39) |
G1123C |
probably damaging |
Het |
Wdr62 |
T |
C |
7: 29,942,948 (GRCm39) |
E515G |
probably benign |
Het |
Zfand1 |
A |
T |
3: 10,413,590 (GRCm39) |
D32E |
probably null |
Het |
Zfp112 |
A |
C |
7: 23,821,668 (GRCm39) |
T3P |
probably damaging |
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 |
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 |
IGL02902:Abcc1
|
APN |
16 |
14,240,991 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2011-07-12 |