Incidental Mutation 'R4696:Abcc3'
ID |
355718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc3
|
Ensembl Gene |
ENSMUSG00000020865 |
Gene Name |
ATP-binding cassette, sub-family C member 3 |
Synonyms |
1700019L09Rik, MRP3 |
MMRRC Submission |
041946-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4696 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94241817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1405
(S1405G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021231
AA Change: S1404G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: S1404G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
310 |
581 |
4.4e-43 |
PFAM |
AAA
|
652 |
827 |
2.77e-10 |
SMART |
Pfam:ABC_membrane
|
963 |
1235 |
3.2e-46 |
PFAM |
AAA
|
1310 |
1495 |
2.66e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: S1405G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: S1405G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
transmembrane domain
|
172 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
310 |
581 |
4.8e-34 |
PFAM |
AAA
|
652 |
827 |
2.77e-10 |
SMART |
coiled coil region
|
854 |
883 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
967 |
1236 |
8.6e-48 |
PFAM |
AAA
|
1311 |
1496 |
2.66e-12 |
SMART |
|
Meta Mutation Damage Score |
0.1444 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (74/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,171,261 (GRCm39) |
V1165A |
possibly damaging |
Het |
Acin1 |
C |
A |
14: 54,880,474 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,340,312 (GRCm39) |
V159I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,597,504 (GRCm39) |
Y777H |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,530,407 (GRCm39) |
G101C |
probably damaging |
Het |
Cdc42ep5 |
G |
A |
7: 4,154,614 (GRCm39) |
P58L |
possibly damaging |
Het |
Cic |
A |
G |
7: 24,987,908 (GRCm39) |
N1532S |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,714 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,617,146 (GRCm39) |
I835V |
probably benign |
Het |
Cntrob |
C |
T |
11: 69,211,714 (GRCm39) |
G170D |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,235,998 (GRCm39) |
Q304R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,777,364 (GRCm39) |
T1181A |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,413,834 (GRCm39) |
F994L |
probably damaging |
Het |
Ddx42 |
C |
A |
11: 106,138,529 (GRCm39) |
A776D |
probably benign |
Het |
Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
Dmpk |
A |
T |
7: 18,822,139 (GRCm39) |
N366Y |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,580,674 (GRCm39) |
Y362C |
possibly damaging |
Het |
Dock10 |
C |
T |
1: 80,493,330 (GRCm39) |
G1880D |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,545,664 (GRCm39) |
R638G |
possibly damaging |
Het |
Dzip3 |
T |
A |
16: 48,746,332 (GRCm39) |
|
probably benign |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Eno4 |
T |
C |
19: 58,934,068 (GRCm39) |
S90P |
probably damaging |
Het |
Epn2 |
C |
G |
11: 61,426,129 (GRCm39) |
A283P |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,397,543 (GRCm39) |
Y67* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,175,841 (GRCm39) |
N1624S |
probably benign |
Het |
Fez1 |
T |
A |
9: 36,781,766 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
T |
C |
8: 26,053,504 (GRCm39) |
S260P |
probably damaging |
Het |
Glb1 |
A |
G |
9: 114,293,220 (GRCm39) |
S532G |
probably benign |
Het |
Gm15455 |
A |
T |
1: 33,876,874 (GRCm39) |
|
noncoding transcript |
Het |
Grid2ip |
A |
G |
5: 143,377,131 (GRCm39) |
|
probably benign |
Het |
Guca2b |
C |
A |
4: 119,513,996 (GRCm39) |
G129V |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,372,124 (GRCm39) |
E65G |
probably damaging |
Het |
Itgbl1 |
T |
C |
14: 124,204,120 (GRCm39) |
C404R |
probably damaging |
Het |
Kansl1 |
C |
T |
11: 104,247,593 (GRCm39) |
V586I |
possibly damaging |
Het |
Krt18 |
A |
G |
15: 101,940,293 (GRCm39) |
D390G |
probably benign |
Het |
Laptm5 |
T |
C |
4: 130,660,982 (GRCm39) |
|
probably benign |
Het |
Lgals3bp |
C |
T |
11: 118,288,977 (GRCm39) |
E116K |
probably benign |
Het |
Lrrc39 |
C |
T |
3: 116,363,769 (GRCm39) |
S114F |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,419,117 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,899,931 (GRCm39) |
H481R |
probably benign |
Het |
Ntm |
T |
C |
9: 29,090,501 (GRCm39) |
T73A |
possibly damaging |
Het |
Or5m13b |
T |
A |
2: 85,749,215 (GRCm39) |
|
probably null |
Het |
Or8g4 |
T |
A |
9: 39,662,024 (GRCm39) |
M114K |
probably damaging |
Het |
Pbk |
G |
A |
14: 66,049,386 (GRCm39) |
C21Y |
probably benign |
Het |
Pglyrp1 |
A |
G |
7: 18,618,871 (GRCm39) |
E74G |
probably benign |
Het |
R3hdm1 |
G |
T |
1: 128,164,503 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,633,375 (GRCm39) |
T599A |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,203,798 (GRCm39) |
|
probably benign |
Het |
Rims1 |
A |
T |
1: 22,358,836 (GRCm39) |
M1273K |
probably damaging |
Het |
Sbf1 |
G |
A |
15: 89,187,315 (GRCm39) |
R721* |
probably null |
Het |
Slc17a1 |
T |
C |
13: 24,064,700 (GRCm39) |
I388T |
probably damaging |
Het |
Sprn |
A |
C |
7: 139,733,469 (GRCm39) |
|
probably benign |
Het |
Tango6 |
T |
C |
8: 107,426,863 (GRCm39) |
V459A |
possibly damaging |
Het |
Tert |
C |
T |
13: 73,775,939 (GRCm39) |
T230I |
probably benign |
Het |
Thada |
T |
C |
17: 84,733,614 (GRCm39) |
D1011G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,851,549 (GRCm39) |
N838K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,597,997 (GRCm39) |
W19639R |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,135,983 (GRCm39) |
S924T |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,250,861 (GRCm39) |
E110G |
probably benign |
Het |
Vegfa |
C |
T |
17: 46,339,272 (GRCm39) |
|
probably null |
Het |
Vmn1r231 |
T |
C |
17: 21,110,901 (GRCm39) |
K5E |
possibly damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,487,168 (GRCm39) |
I130F |
probably benign |
Het |
Wscd2 |
T |
A |
5: 113,689,240 (GRCm39) |
V82E |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,612 (GRCm39) |
T193A |
probably benign |
Het |
Zfp467 |
A |
G |
6: 48,416,291 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
T |
C |
7: 39,186,412 (GRCm39) |
L814P |
probably benign |
Het |
|
Other mutations in Abcc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Abcc3
|
APN |
11 |
94,234,611 (GRCm39) |
splice site |
probably benign |
|
IGL01154:Abcc3
|
APN |
11 |
94,250,058 (GRCm39) |
splice site |
probably benign |
|
IGL01353:Abcc3
|
APN |
11 |
94,242,934 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02553:Abcc3
|
APN |
11 |
94,242,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02795:Abcc3
|
APN |
11 |
94,252,468 (GRCm39) |
splice site |
probably benign |
|
IGL02928:Abcc3
|
APN |
11 |
94,252,132 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02964:Abcc3
|
APN |
11 |
94,242,636 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03006:Abcc3
|
APN |
11 |
94,259,421 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03345:Abcc3
|
APN |
11 |
94,250,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Abcc3
|
UTSW |
11 |
94,245,900 (GRCm39) |
missense |
probably damaging |
0.96 |
R0377:Abcc3
|
UTSW |
11 |
94,265,922 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0812:Abcc3
|
UTSW |
11 |
94,266,028 (GRCm39) |
splice site |
probably benign |
|
R1269:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R1270:Abcc3
|
UTSW |
11 |
94,248,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R1375:Abcc3
|
UTSW |
11 |
94,243,042 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1506:Abcc3
|
UTSW |
11 |
94,248,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1525:Abcc3
|
UTSW |
11 |
94,252,062 (GRCm39) |
missense |
probably benign |
0.00 |
R1842:Abcc3
|
UTSW |
11 |
94,250,438 (GRCm39) |
missense |
probably benign |
0.00 |
R1868:Abcc3
|
UTSW |
11 |
94,254,889 (GRCm39) |
missense |
probably benign |
0.06 |
R2069:Abcc3
|
UTSW |
11 |
94,255,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Abcc3
|
UTSW |
11 |
94,258,426 (GRCm39) |
missense |
probably benign |
0.18 |
R2257:Abcc3
|
UTSW |
11 |
94,254,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R2395:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2930:Abcc3
|
UTSW |
11 |
94,252,636 (GRCm39) |
missense |
probably damaging |
0.99 |
R3081:Abcc3
|
UTSW |
11 |
94,247,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R3824:Abcc3
|
UTSW |
11 |
94,259,446 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4385:Abcc3
|
UTSW |
11 |
94,259,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R4425:Abcc3
|
UTSW |
11 |
94,236,870 (GRCm39) |
missense |
probably damaging |
0.98 |
R4464:Abcc3
|
UTSW |
11 |
94,249,612 (GRCm39) |
missense |
probably benign |
0.01 |
R4877:Abcc3
|
UTSW |
11 |
94,258,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R5172:Abcc3
|
UTSW |
11 |
94,266,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Abcc3
|
UTSW |
11 |
94,255,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Abcc3
|
UTSW |
11 |
94,283,723 (GRCm39) |
missense |
probably benign |
0.31 |
R5719:Abcc3
|
UTSW |
11 |
94,241,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R5816:Abcc3
|
UTSW |
11 |
94,234,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R5919:Abcc3
|
UTSW |
11 |
94,248,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6222:Abcc3
|
UTSW |
11 |
94,259,431 (GRCm39) |
missense |
probably benign |
0.21 |
R6264:Abcc3
|
UTSW |
11 |
94,264,824 (GRCm39) |
missense |
probably damaging |
0.99 |
R6526:Abcc3
|
UTSW |
11 |
94,250,198 (GRCm39) |
missense |
probably benign |
0.21 |
R6782:Abcc3
|
UTSW |
11 |
94,249,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6889:Abcc3
|
UTSW |
11 |
94,266,381 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6953:Abcc3
|
UTSW |
11 |
94,265,661 (GRCm39) |
missense |
probably benign |
0.03 |
R7054:Abcc3
|
UTSW |
11 |
94,256,051 (GRCm39) |
missense |
probably benign |
0.01 |
R7131:Abcc3
|
UTSW |
11 |
94,255,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7210:Abcc3
|
UTSW |
11 |
94,264,767 (GRCm39) |
missense |
probably benign |
0.03 |
R7283:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
R7284:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
R7285:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
R7287:Abcc3
|
UTSW |
11 |
94,247,873 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Abcc3
|
UTSW |
11 |
94,258,471 (GRCm39) |
missense |
probably benign |
0.33 |
R7450:Abcc3
|
UTSW |
11 |
94,252,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Abcc3
|
UTSW |
11 |
94,259,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Abcc3
|
UTSW |
11 |
94,249,697 (GRCm39) |
missense |
probably benign |
0.12 |
R7851:Abcc3
|
UTSW |
11 |
94,250,486 (GRCm39) |
nonsense |
probably null |
|
R7861:Abcc3
|
UTSW |
11 |
94,248,075 (GRCm39) |
missense |
probably null |
1.00 |
R8036:Abcc3
|
UTSW |
11 |
94,236,818 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8214:Abcc3
|
UTSW |
11 |
94,254,344 (GRCm39) |
missense |
probably damaging |
0.96 |
R8447:Abcc3
|
UTSW |
11 |
94,254,886 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8558:Abcc3
|
UTSW |
11 |
94,242,623 (GRCm39) |
critical splice donor site |
probably null |
|
R8733:Abcc3
|
UTSW |
11 |
94,249,627 (GRCm39) |
missense |
probably damaging |
0.97 |
R8821:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R8831:Abcc3
|
UTSW |
11 |
94,241,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Abcc3
|
UTSW |
11 |
94,255,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9315:Abcc3
|
UTSW |
11 |
94,265,576 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9519:Abcc3
|
UTSW |
11 |
94,264,805 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9658:Abcc3
|
UTSW |
11 |
94,263,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9686:Abcc3
|
UTSW |
11 |
94,247,867 (GRCm39) |
missense |
probably benign |
0.30 |
R9722:Abcc3
|
UTSW |
11 |
94,250,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R9723:Abcc3
|
UTSW |
11 |
94,250,725 (GRCm39) |
missense |
probably benign |
0.03 |
X0064:Abcc3
|
UTSW |
11 |
94,254,324 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Abcc3
|
UTSW |
11 |
94,252,101 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Abcc3
|
UTSW |
11 |
94,247,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTGCAAGTTTGGCTGAG -3'
(R):5'- AAGTCCTCCTTCTGGTGAACGG -3'
Sequencing Primer
(F):5'- AGGTGCATGCCGTATGGATC -3'
(R):5'- TCCTTCTGGTGAACGGAGGAC -3'
|
Posted On |
2015-10-21 |