Incidental Mutation 'R5490:Abcc1'
ID |
432061 |
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 |
043051-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R5490 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 14228781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 343
(G343C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100167]
[ENSMUST00000130671]
[ENSMUST00000133454]
[ENSMUST00000147759]
|
AlphaFold |
O35379 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100167
AA Change: G343C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: G343C
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: G343C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116714 Gene: ENSMUSG00000023088 AA Change: G343C
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: G343C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122656 Gene: ENSMUSG00000023088 AA Change: G343C
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: G343C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115627 Gene: ENSMUSG00000023088 AA Change: G343C
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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCAAGCCTAAGGGAAGTTC -3'
(R):5'- TGAGATCTACCTGCACCCTTG -3'
Sequencing Primer
(F):5'- AAGTTCCCAGTTGGATGTGAATGAG -3'
(R):5'- ATCCTCCTAACTTTGGATTCAGGAGG -3'
|
Posted On |
2016-10-05 |