Incidental Mutation 'R5275:Abcc1'
| ID |
403907 |
| 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 |
042838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R5275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14284050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1222
(L1222F)
|
| 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: L1222F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: L1222F
| 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 |
|
| Meta Mutation Damage Score |
0.4306 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Apold1 |
G |
T |
6: 134,960,763 (GRCm39) |
L72F |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,336 (GRCm39) |
H134R |
probably benign |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,811,283 (GRCm39) |
L1440P |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,519,340 (GRCm39) |
S279P |
probably damaging |
Het |
| Cma1 |
A |
T |
14: 56,179,157 (GRCm39) |
I233N |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,219,229 (GRCm39) |
S1890P |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
A |
8: 32,229,595 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T5 |
T |
C |
17: 36,472,567 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,430,397 (GRCm39) |
T451I |
probably damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,015 (GRCm39) |
T39S |
probably benign |
Het |
| Or4f15 |
T |
A |
2: 111,814,174 (GRCm39) |
I82F |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,953 (GRCm39) |
I48F |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,417,154 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,801,069 (GRCm39) |
Y115* |
probably null |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Ptpn20 |
A |
G |
14: 33,353,149 (GRCm39) |
H296R |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,478,819 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
T |
12: 51,462,372 (GRCm39) |
H409L |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Slc24a5 |
C |
T |
2: 124,927,781 (GRCm39) |
T360I |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,830,807 (GRCm39) |
H51R |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,942,198 (GRCm39) |
V1009D |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Tlk1 |
C |
T |
2: 70,582,549 (GRCm39) |
|
probably benign |
Het |
| Tnc |
G |
A |
4: 63,882,967 (GRCm39) |
Q1885* |
probably null |
Het |
| Vcl |
T |
C |
14: 21,060,146 (GRCm39) |
V595A |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,095,741 (GRCm39) |
N305K |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTTCTCTAGAAGTGCTG -3'
(R):5'- CAGAATTCCCATGCTGGCAC -3'
Sequencing Primer
(F):5'- TGCTCAGCTATCAGAAGGGC -3'
(R):5'- ATGCTGGCACCAGGCTCTATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation