Incidental Mutation 'R7619:Abcc1'
| ID |
589074 |
| 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 |
045686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
14179317-14292743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 14263283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 748
(P748A)
|
| 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: P748A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: P748A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,293,182 (GRCm39) |
V2A |
probably damaging |
Het |
| Anxa3 |
T |
C |
5: 96,978,263 (GRCm39) |
Y216H |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,041,668 (GRCm39) |
T317K |
probably benign |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,483 (GRCm39) |
L34S |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,504 (GRCm39) |
F172S |
probably damaging |
Het |
| Ccl27a |
G |
A |
4: 41,774,166 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,752,342 (GRCm39) |
N480D |
|
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,076 (GRCm39) |
S603P |
possibly damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,443 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,323,475 (GRCm39) |
I626V |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,416,930 (GRCm39) |
N821S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,238,509 (GRCm39) |
L1723S |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,492,399 (GRCm39) |
M245K |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,501,967 (GRCm39) |
T536A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,213,299 (GRCm39) |
R963S |
possibly damaging |
Het |
| Fbxo42 |
T |
G |
4: 140,927,673 (GRCm39) |
I651S |
possibly damaging |
Het |
| Ggnbp1 |
T |
A |
17: 27,237,105 (GRCm39) |
M1K |
probably null |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grid2 |
T |
C |
6: 63,908,085 (GRCm39) |
F242L |
possibly damaging |
Het |
| Igf2r |
A |
G |
17: 12,917,160 (GRCm39) |
V1580A |
possibly damaging |
Het |
| Marchf4 |
A |
G |
1: 72,574,148 (GRCm39) |
V50A |
possibly damaging |
Het |
| Mettl15 |
T |
A |
2: 108,923,220 (GRCm39) |
R401* |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,301,106 (GRCm39) |
H1309Q |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,252 (GRCm39) |
Y412H |
probably damaging |
Het |
| Myef2 |
C |
T |
2: 124,965,396 (GRCm39) |
G15S |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,880,846 (GRCm39) |
I183N |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,454,886 (GRCm39) |
E2644G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,186,438 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or52l1 |
A |
G |
7: 104,829,956 (GRCm39) |
V203A |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,202 (GRCm39) |
H398L |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,805 (GRCm39) |
S545G |
probably damaging |
Het |
| Pramel19 |
T |
G |
4: 101,798,497 (GRCm39) |
F156C |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,991 (GRCm39) |
S4G |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,557,175 (GRCm39) |
E420G |
probably benign |
Het |
| Sap30l |
G |
A |
11: 57,698,887 (GRCm39) |
R120H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,247 (GRCm39) |
F937L |
probably damaging |
Het |
| Sdf2 |
G |
A |
11: 78,141,989 (GRCm39) |
G108D |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,381,305 (GRCm39) |
S1263G |
unknown |
Het |
| Stab1 |
A |
G |
14: 30,867,194 (GRCm39) |
I1722T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Tcp11l2 |
T |
C |
10: 84,430,622 (GRCm39) |
F249S |
probably damaging |
Het |
| Thoc7 |
T |
A |
14: 13,961,819 (GRCm38) |
|
probably null |
Het |
| Tvp23a |
C |
A |
16: 10,246,602 (GRCm39) |
C61F |
probably damaging |
Het |
| Ubfd1 |
G |
A |
7: 121,666,606 (GRCm39) |
G34D |
probably benign |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,967 (GRCm39) |
T107S |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,457 (GRCm39) |
K133I |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,436,190 (GRCm39) |
|
probably null |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfp354c |
C |
T |
11: 50,708,635 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
G |
T |
9: 20,260,206 (GRCm39) |
Q219K |
probably benign |
Het |
| Zfp691 |
C |
T |
4: 119,028,181 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,661,810 (GRCm39) |
M1K |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,169 (GRCm39) |
F454S |
probably benign |
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 |
|
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 |
|
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'- AGTTGGTTCTTTTCACAGGCAG -3'
(R):5'- TGGCCAGACTTACATAGCATGG -3'
Sequencing Primer
(F):5'- TCTTTTCACAGGCAGGTGTC -3'
(R):5'- CCAGACTTACATAGCATGGCAAAAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation