Incidental Mutation 'R0594:Abcc1'
ID |
56170 |
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 |
038784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R0594 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14207744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100167]
[ENSMUST00000130671]
[ENSMUST00000133454]
[ENSMUST00000134776]
[ENSMUST00000144676]
[ENSMUST00000147759]
[ENSMUST00000154748]
|
AlphaFold |
O35379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100167
AA Change: V41A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097743 Gene: ENSMUSG00000023088 AA Change: V41A
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
AA Change: V41A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116714 Gene: ENSMUSG00000023088 AA Change: V41A
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
AA Change: V41A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000122656 Gene: ENSMUSG00000023088 AA Change: V41A
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: ENSMUST00000134776
AA Change: V41A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000120933 Gene: ENSMUSG00000023088 AA Change: V41A
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
|
131 |
153 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144676
AA Change: V27A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000116726 Gene: ENSMUSG00000023088 AA Change: V27A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147759
AA Change: V41A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000115627 Gene: ENSMUSG00000023088 AA Change: V41A
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: ENSMUST00000154748
AA Change: V41A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115763 Gene: ENSMUSG00000023088 AA Change: V41A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0662 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
Validation Efficiency |
99% (119/120) |
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: 116 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 103,972,762 (GRCm39) |
Q367R |
probably benign |
Het |
Ackr4 |
A |
G |
9: 103,976,203 (GRCm39) |
V248A |
possibly damaging |
Het |
Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,959,728 (GRCm39) |
M663V |
probably damaging |
Het |
Apc2 |
T |
A |
10: 80,142,090 (GRCm39) |
C336* |
probably null |
Het |
Arhgap17 |
A |
G |
7: 122,893,741 (GRCm39) |
S560P |
probably benign |
Het |
Arl5a |
T |
C |
2: 52,295,026 (GRCm39) |
D128G |
probably damaging |
Het |
Atp6v0a2 |
C |
A |
5: 124,795,046 (GRCm39) |
R678S |
probably benign |
Het |
B4galnt2 |
C |
A |
11: 95,782,735 (GRCm39) |
A26S |
probably benign |
Het |
C1qtnf1 |
A |
T |
11: 118,337,454 (GRCm39) |
T95S |
possibly damaging |
Het |
Ccdc188 |
T |
A |
16: 18,036,784 (GRCm39) |
F241L |
probably benign |
Het |
Cdh19 |
A |
T |
1: 110,853,597 (GRCm39) |
D281E |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
Cherp |
A |
T |
8: 73,216,246 (GRCm39) |
|
probably null |
Het |
Cpne9 |
T |
A |
6: 113,267,361 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
A |
T |
15: 38,940,537 (GRCm39) |
R47W |
possibly damaging |
Het |
Dcaf13 |
A |
G |
15: 38,986,663 (GRCm39) |
E145G |
probably benign |
Het |
Dcaf4 |
T |
A |
12: 83,584,817 (GRCm39) |
|
probably null |
Het |
Dgka |
A |
C |
10: 128,568,979 (GRCm39) |
|
probably benign |
Het |
Dhrs13 |
T |
A |
11: 77,925,351 (GRCm39) |
F157L |
probably damaging |
Het |
Dnajb5 |
A |
T |
4: 42,956,577 (GRCm39) |
Y88F |
probably damaging |
Het |
Dpp8 |
A |
G |
9: 64,944,280 (GRCm39) |
T16A |
probably damaging |
Het |
Dscc1 |
A |
T |
15: 54,952,448 (GRCm39) |
I91K |
possibly damaging |
Het |
Efemp2 |
T |
A |
19: 5,525,091 (GRCm39) |
|
probably benign |
Het |
Elf2 |
T |
C |
3: 51,163,874 (GRCm39) |
T504A |
possibly damaging |
Het |
Elk3 |
G |
A |
10: 93,101,022 (GRCm39) |
S243F |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,898,112 (GRCm39) |
D93G |
probably damaging |
Het |
Eln |
G |
T |
5: 134,741,252 (GRCm39) |
|
probably benign |
Het |
Eme1 |
C |
T |
11: 94,541,256 (GRCm39) |
D189N |
possibly damaging |
Het |
Epb41l2 |
A |
G |
10: 25,319,668 (GRCm39) |
E167G |
possibly damaging |
Het |
Exoc5 |
A |
T |
14: 49,273,544 (GRCm39) |
|
probably benign |
Het |
Fam170b |
A |
G |
14: 32,558,271 (GRCm39) |
K369E |
unknown |
Het |
Fam187b |
T |
A |
7: 30,676,579 (GRCm39) |
C29* |
probably null |
Het |
Fam20c |
T |
C |
5: 138,752,392 (GRCm39) |
S260P |
possibly damaging |
Het |
Fam216b |
G |
A |
14: 78,324,114 (GRCm39) |
A21V |
possibly damaging |
Het |
Fam98a |
A |
T |
17: 75,845,482 (GRCm39) |
Y421* |
probably null |
Het |
Farp2 |
T |
C |
1: 93,504,222 (GRCm39) |
V333A |
probably damaging |
Het |
Fcgr1 |
T |
C |
3: 96,199,628 (GRCm39) |
Y93C |
probably damaging |
Het |
Fgd2 |
A |
T |
17: 29,584,526 (GRCm39) |
I157F |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,302,387 (GRCm39) |
|
probably benign |
Het |
Fut9 |
T |
C |
4: 25,620,526 (GRCm39) |
D96G |
possibly damaging |
Het |
Glt8d1 |
G |
A |
14: 30,732,367 (GRCm39) |
|
probably null |
Het |
Gm7579 |
T |
A |
7: 141,766,121 (GRCm39) |
C176S |
unknown |
Het |
Gmpr2 |
A |
G |
14: 55,915,445 (GRCm39) |
E272G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,927 (GRCm39) |
H873R |
probably damaging |
Het |
Gtf2i |
C |
T |
5: 134,271,027 (GRCm39) |
|
probably benign |
Het |
Htr3b |
A |
T |
9: 48,858,931 (GRCm39) |
V69E |
probably benign |
Het |
Icam5 |
A |
G |
9: 20,946,894 (GRCm39) |
N474S |
probably benign |
Het |
Itgal |
T |
A |
7: 126,913,232 (GRCm39) |
S610T |
probably damaging |
Het |
Jag1 |
T |
A |
2: 136,929,000 (GRCm39) |
I819L |
probably damaging |
Het |
Kif9 |
A |
T |
9: 110,340,408 (GRCm39) |
E467V |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,873,694 (GRCm39) |
L491P |
possibly damaging |
Het |
Lipo2 |
T |
G |
19: 33,724,302 (GRCm39) |
I155L |
possibly damaging |
Het |
Lmbr1 |
A |
G |
5: 29,497,207 (GRCm39) |
F65L |
possibly damaging |
Het |
Lsp1 |
G |
A |
7: 142,042,687 (GRCm39) |
|
probably benign |
Het |
Mgat5 |
T |
A |
1: 127,339,985 (GRCm39) |
D455E |
probably damaging |
Het |
Mical2 |
A |
T |
7: 111,917,657 (GRCm39) |
Y338F |
probably damaging |
Het |
Mre11a |
T |
G |
9: 14,726,505 (GRCm39) |
S396A |
probably benign |
Het |
Mrtfa |
G |
A |
15: 80,901,375 (GRCm39) |
T372I |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,536 (GRCm39) |
N121D |
probably benign |
Het |
Myo3a |
C |
T |
2: 22,436,370 (GRCm39) |
|
probably benign |
Het |
Naca |
T |
C |
10: 127,876,224 (GRCm39) |
|
probably benign |
Het |
Nav1 |
A |
T |
1: 135,395,381 (GRCm39) |
I996K |
possibly damaging |
Het |
Ncbp1 |
A |
G |
4: 46,170,551 (GRCm39) |
N742S |
probably benign |
Het |
Ndufaf3 |
G |
A |
9: 108,444,122 (GRCm39) |
A2V |
probably benign |
Het |
Niban3 |
C |
A |
8: 72,051,779 (GRCm39) |
A38E |
probably benign |
Het |
Ntn5 |
G |
T |
7: 45,336,105 (GRCm39) |
A47S |
probably damaging |
Het |
Or10ag57 |
T |
A |
2: 87,218,298 (GRCm39) |
I83N |
probably damaging |
Het |
Or1e25 |
G |
A |
11: 73,494,218 (GRCm39) |
E271K |
probably benign |
Het |
Or1e32 |
T |
C |
11: 73,705,443 (GRCm39) |
H155R |
probably benign |
Het |
Or2a7 |
T |
A |
6: 43,151,541 (GRCm39) |
V207E |
possibly damaging |
Het |
Or6c207 |
T |
C |
10: 129,105,021 (GRCm39) |
Y57C |
possibly damaging |
Het |
Or9i1 |
G |
T |
19: 13,839,643 (GRCm39) |
C162F |
probably benign |
Het |
Otud7a |
T |
A |
7: 63,377,220 (GRCm39) |
L203* |
probably null |
Het |
Pakap |
A |
G |
4: 57,856,752 (GRCm39) |
T694A |
probably benign |
Het |
Pcdhb13 |
A |
G |
18: 37,576,984 (GRCm39) |
Y454C |
probably damaging |
Het |
Pdzph1 |
C |
T |
17: 59,261,474 (GRCm39) |
V853M |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
Pm20d2 |
C |
T |
4: 33,181,746 (GRCm39) |
E286K |
probably damaging |
Het |
Polr2i |
T |
A |
7: 29,932,170 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
A |
G |
1: 134,704,217 (GRCm39) |
L879P |
probably damaging |
Het |
Prf1 |
C |
A |
10: 61,139,501 (GRCm39) |
Y486* |
probably null |
Het |
Qsox2 |
T |
G |
2: 26,104,056 (GRCm39) |
T325P |
probably damaging |
Het |
Rab1b |
G |
T |
19: 5,150,684 (GRCm39) |
|
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,266,381 (GRCm39) |
|
probably null |
Het |
Rhobtb2 |
A |
G |
14: 70,031,397 (GRCm39) |
V576A |
probably benign |
Het |
Rnps1 |
G |
A |
17: 24,643,411 (GRCm39) |
V215M |
probably damaging |
Het |
Rps11 |
A |
G |
7: 44,773,706 (GRCm39) |
|
probably benign |
Het |
Serpinb3d |
C |
T |
1: 107,007,077 (GRCm39) |
M210I |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,458,428 (GRCm39) |
T17A |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,686,761 (GRCm39) |
T43A |
probably damaging |
Het |
Sox4 |
C |
G |
13: 29,136,887 (GRCm39) |
A40P |
probably damaging |
Het |
Spry2 |
A |
T |
14: 106,130,744 (GRCm39) |
D147E |
possibly damaging |
Het |
Stpg1 |
A |
G |
4: 135,246,742 (GRCm39) |
N157D |
possibly damaging |
Het |
Sumf1 |
T |
C |
6: 108,150,375 (GRCm39) |
D152G |
probably benign |
Het |
Tbr1 |
T |
C |
2: 61,641,964 (GRCm39) |
S410P |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,274 (GRCm39) |
V258A |
probably damaging |
Het |
Tirap |
C |
T |
9: 35,100,057 (GRCm39) |
G209D |
probably damaging |
Het |
Tnfrsf8 |
A |
T |
4: 145,023,431 (GRCm39) |
V134D |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,677,905 (GRCm39) |
T97A |
probably benign |
Het |
Tspan32 |
T |
A |
7: 142,569,347 (GRCm39) |
F135L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,619,400 (GRCm39) |
K16021E |
probably damaging |
Het |
Tusc3 |
T |
A |
8: 39,564,122 (GRCm39) |
I251N |
probably damaging |
Het |
Usp38 |
A |
T |
8: 81,731,995 (GRCm39) |
I305N |
probably damaging |
Het |
Usp4 |
T |
A |
9: 108,248,080 (GRCm39) |
|
probably null |
Het |
Usp5 |
A |
T |
6: 124,794,387 (GRCm39) |
D764E |
probably damaging |
Het |
Vangl2 |
A |
T |
1: 171,832,224 (GRCm39) |
V544E |
probably damaging |
Het |
Vldlr |
G |
A |
19: 27,212,219 (GRCm39) |
V78M |
probably damaging |
Het |
Vmn1r29 |
T |
C |
6: 58,284,757 (GRCm39) |
V159A |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 102,054,051 (GRCm39) |
I1590F |
possibly damaging |
Het |
Xpo1 |
T |
A |
11: 23,230,402 (GRCm39) |
V263E |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,568,007 (GRCm39) |
S1026P |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,580,692 (GRCm39) |
D140E |
possibly damaging |
Het |
Zfp637 |
T |
A |
6: 117,822,647 (GRCm39) |
Y258* |
probably null |
Het |
Zfp951 |
T |
A |
5: 104,962,438 (GRCm39) |
Q376L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGCTGCTGCACTAGGATCAC -3'
(R):5'- CGGCCCTGAAAACATTTCCAAAGTC -3'
Sequencing Primer
(F):5'- ATATACTTGTGTTGAGAGATCCCTG -3'
(R):5'- tggggaaactgaggaaatgg -3'
|
Posted On |
2013-07-11 |