Incidental Mutation 'R6950:Abcc1'
ID |
541237 |
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 |
045062-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R6950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14229480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 404
(V404D)
|
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: V404D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: V404D
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: V404D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116714 Gene: ENSMUSG00000023088 AA Change: V404D
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: V404D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122656 Gene: ENSMUSG00000023088 AA Change: V404D
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: V404D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115627 Gene: ENSMUSG00000023088 AA Change: V404D
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 |
0.9186 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
98% (59/60) |
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 |
Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
possibly 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 |
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 |
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'- GCCCCTACTGTATGTATCACAC -3'
(R):5'- TCACACTTGCCACTGAGAGC -3'
Sequencing Primer
(F):5'- CTGTATGTATCACACTTAAATCTCCC -3'
(R):5'- GCCACTGAGAGCCATTTTATTAAGAG -3'
|
Posted On |
2018-11-28 |