Incidental Mutation 'R7187:Abcc1'
ID |
559386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc1
|
Ensembl Gene |
ENSMUSG00000023088 |
Gene Name |
ATP-binding cassette, sub-family C member 1 |
Synonyms |
Mdrap, Mrp1, MRP, Abcc1b, Abcc1a |
MMRRC Submission |
045377-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R7187 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14284861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1237
(I1237V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100167]
[ENSMUST00000130671]
[ENSMUST00000133454]
[ENSMUST00000147759]
|
AlphaFold |
O35379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100167
AA Change: I1237V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: I1237V
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 |
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,327,733 (GRCm39) |
Y716C |
probably damaging |
Het |
Adam34 |
C |
T |
8: 44,105,565 (GRCm39) |
A27T |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,257,478 (GRCm39) |
S415G |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,711,532 (GRCm39) |
Y390H |
probably benign |
Het |
Arap2 |
A |
C |
5: 62,826,396 (GRCm39) |
M1056R |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,923,945 (GRCm39) |
Y676C |
unknown |
Het |
Cachd1 |
T |
A |
4: 100,833,552 (GRCm39) |
H776Q |
possibly damaging |
Het |
Cacng7 |
T |
C |
7: 3,385,183 (GRCm39) |
V28A |
probably damaging |
Het |
Camk2g |
A |
T |
14: 20,792,780 (GRCm39) |
D359E |
probably benign |
Het |
Cd209b |
T |
C |
8: 3,976,638 (GRCm39) |
D16G |
probably benign |
Het |
Ceacam5 |
A |
G |
7: 17,493,410 (GRCm39) |
E811G |
possibly damaging |
Het |
Cecr2 |
T |
A |
6: 120,733,647 (GRCm39) |
S545T |
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,806 (GRCm39) |
|
probably null |
Het |
Ctif |
C |
A |
18: 75,770,290 (GRCm39) |
V32L |
probably damaging |
Het |
Cwc27 |
G |
A |
13: 104,797,900 (GRCm39) |
A353V |
probably benign |
Het |
Dclk3 |
T |
A |
9: 111,314,064 (GRCm39) |
S713R |
probably damaging |
Het |
Dlec1 |
C |
T |
9: 118,941,214 (GRCm39) |
H255Y |
probably benign |
Het |
Dlgap1 |
A |
G |
17: 70,823,093 (GRCm39) |
H26R |
possibly damaging |
Het |
Dydc1 |
C |
T |
14: 40,800,051 (GRCm39) |
T19I |
possibly damaging |
Het |
Efcab12 |
G |
A |
6: 115,800,474 (GRCm39) |
P183L |
not run |
Het |
Eif1ad19 |
T |
C |
12: 87,740,708 (GRCm39) |
|
probably benign |
Het |
Eri3 |
C |
A |
4: 117,446,343 (GRCm39) |
Q219K |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,083,295 (GRCm39) |
L310P |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,965,272 (GRCm39) |
S502T |
possibly damaging |
Het |
Fgf8 |
A |
G |
19: 45,730,106 (GRCm39) |
S57P |
probably benign |
Het |
Gls |
T |
C |
1: 52,259,139 (GRCm39) |
E154G |
probably damaging |
Het |
Gm28042 |
T |
C |
2: 119,870,176 (GRCm39) |
L705P |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,736,512 (GRCm39) |
Q1961K |
probably benign |
Het |
Herc3 |
C |
A |
6: 58,833,616 (GRCm39) |
Q168K |
probably benign |
Het |
Il31ra |
C |
A |
13: 112,682,845 (GRCm39) |
C168F |
probably benign |
Het |
Ino80 |
A |
T |
2: 119,257,072 (GRCm39) |
D860E |
probably benign |
Het |
Iqcm |
T |
G |
8: 76,480,044 (GRCm39) |
L334R |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,641,204 (GRCm39) |
D1587G |
possibly damaging |
Het |
Map4 |
T |
A |
9: 109,882,201 (GRCm39) |
V355E |
probably benign |
Het |
Mapk13 |
T |
A |
17: 28,995,361 (GRCm39) |
I194N |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
Naglu |
G |
T |
11: 100,961,158 (GRCm39) |
G70W |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,343,201 (GRCm39) |
M126K |
possibly damaging |
Het |
Or4c120 |
T |
C |
2: 89,001,714 (GRCm39) |
|
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,585 (GRCm39) |
V165E |
probably benign |
Het |
Pdia4 |
T |
C |
6: 47,790,193 (GRCm39) |
T16A |
unknown |
Het |
Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
Ripor1 |
A |
G |
8: 106,344,506 (GRCm39) |
T547A |
probably benign |
Het |
Rundc3b |
A |
G |
5: 8,542,506 (GRCm39) |
S389P |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats2 |
T |
C |
15: 99,110,054 (GRCm39) |
S484P |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,271,328 (GRCm39) |
T403I |
probably damaging |
Het |
Tacstd2 |
G |
A |
6: 67,512,180 (GRCm39) |
R171W |
probably damaging |
Het |
Taok2 |
A |
T |
7: 126,471,552 (GRCm39) |
F542L |
probably damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,801,459 (GRCm39) |
N331K |
possibly damaging |
Het |
Tff2 |
A |
T |
17: 31,361,200 (GRCm39) |
C118S |
probably damaging |
Het |
Tmprss7 |
G |
A |
16: 45,498,317 (GRCm39) |
T354I |
possibly damaging |
Het |
Tmtc3 |
A |
T |
10: 100,313,774 (GRCm39) |
F33I |
probably damaging |
Het |
Tpbpa |
G |
A |
13: 61,088,399 (GRCm39) |
|
probably benign |
Het |
Ube3a |
G |
T |
7: 58,925,653 (GRCm39) |
V165F |
probably benign |
Het |
Vmn2r4 |
T |
G |
3: 64,322,681 (GRCm39) |
T13P |
probably benign |
Het |
Wnt8b |
A |
G |
19: 44,500,121 (GRCm39) |
D236G |
probably benign |
Het |
Ythdf3 |
C |
A |
3: 16,258,451 (GRCm39) |
D210E |
probably benign |
Het |
Zfp110 |
T |
A |
7: 12,583,753 (GRCm39) |
Y800* |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCGTGTGGACCATGTGTC -3'
(R):5'- ATCCCAAGAGGTCCTGGAAG -3'
Sequencing Primer
(F):5'- ACCATGTGTCACCTTGGAAG -3'
(R):5'- TTAGCTCACCCTCCAAGTAGGTAGAG -3'
|
Posted On |
2019-06-26 |