Incidental Mutation 'R7320:Abcc3'
ID |
568159 |
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 |
045370-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7320 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94258471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 458
(I458T)
|
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: I458T
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: I458T
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 |
probably benign
Transcript: ENSMUST00000178136
AA Change: I458T
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: I458T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
A |
G |
8: 56,325,749 (GRCm39) |
I235T |
possibly damaging |
Het |
Afap1 |
G |
A |
5: 36,105,567 (GRCm39) |
V174I |
probably damaging |
Het |
Ak8 |
A |
T |
2: 28,703,004 (GRCm39) |
D456V |
probably damaging |
Het |
Alb |
T |
C |
5: 90,612,846 (GRCm39) |
|
probably null |
Het |
Alox12 |
C |
T |
11: 70,145,298 (GRCm39) |
A92T |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,342,371 (GRCm39) |
S218P |
probably benign |
Het |
Blm |
G |
A |
7: 80,105,102 (GRCm39) |
Q1389* |
probably null |
Het |
C1ql4 |
A |
T |
15: 98,985,605 (GRCm39) |
V2E |
unknown |
Het |
Casp12 |
A |
G |
9: 5,348,897 (GRCm39) |
|
probably null |
Het |
Ccdc73 |
A |
T |
2: 104,829,521 (GRCm39) |
I1065F |
possibly damaging |
Het |
Ccdc83 |
C |
T |
7: 89,873,242 (GRCm39) |
G371D |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,763 (GRCm39) |
S416P |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,319,012 (GRCm39) |
C1351S |
probably damaging |
Het |
Clcn4 |
A |
T |
7: 7,294,827 (GRCm39) |
H311Q |
probably benign |
Het |
Cldn13 |
T |
G |
5: 134,943,874 (GRCm39) |
I104L |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,821,835 (GRCm39) |
V1880A |
possibly damaging |
Het |
Ddx17 |
A |
T |
15: 79,416,105 (GRCm39) |
D407E |
probably damaging |
Het |
Ddx28 |
G |
A |
8: 106,737,957 (GRCm39) |
P34S |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,270,616 (GRCm39) |
N973Y |
probably null |
Het |
Dnai4 |
A |
T |
4: 102,907,384 (GRCm39) |
I634N |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,527,421 (GRCm39) |
|
probably null |
Het |
Dock3 |
T |
C |
9: 106,772,723 (GRCm39) |
D510G |
probably benign |
Het |
Dst |
T |
A |
1: 34,230,175 (GRCm39) |
D2589E |
probably benign |
Het |
E2f7 |
T |
C |
10: 110,599,991 (GRCm39) |
Y249H |
not run |
Het |
Eef2kmt |
T |
C |
16: 5,068,373 (GRCm39) |
Y69C |
possibly damaging |
Het |
Elapor1 |
T |
A |
3: 108,371,619 (GRCm39) |
K650* |
probably null |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Exog |
G |
T |
9: 119,291,544 (GRCm39) |
V274L |
possibly damaging |
Het |
Fam83e |
G |
A |
7: 45,371,896 (GRCm39) |
V98M |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,857,745 (GRCm39) |
T2013I |
probably benign |
Het |
Gart |
G |
T |
16: 91,418,569 (GRCm39) |
A970E |
probably benign |
Het |
Gga2 |
T |
A |
7: 121,601,326 (GRCm39) |
H259L |
probably benign |
Het |
Glis3 |
C |
A |
19: 28,508,998 (GRCm39) |
V329F |
probably damaging |
Het |
Gm6356 |
T |
A |
14: 6,972,923 (GRCm38) |
N53I |
probably damaging |
Het |
Golgb1 |
C |
A |
16: 36,736,313 (GRCm39) |
C1894* |
probably null |
Het |
Ifi203 |
T |
C |
1: 173,756,733 (GRCm39) |
N350S |
unknown |
Het |
Isy1 |
T |
A |
6: 87,810,688 (GRCm39) |
R55S |
unknown |
Het |
Itsn1 |
A |
T |
16: 91,636,587 (GRCm39) |
D678V |
unknown |
Het |
Lhcgr |
T |
A |
17: 89,049,506 (GRCm39) |
R673S |
probably benign |
Het |
Lnx2 |
C |
A |
5: 146,956,943 (GRCm39) |
R601L |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,910,585 (GRCm39) |
T1093A |
probably benign |
Het |
Minar1 |
A |
G |
9: 89,483,679 (GRCm39) |
S573P |
probably benign |
Het |
Mink1 |
A |
G |
11: 70,489,899 (GRCm39) |
K92E |
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,177,363 (GRCm39) |
I560V |
probably benign |
Het |
Mrc2 |
C |
A |
11: 105,220,061 (GRCm39) |
D327E |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,038,643 (GRCm39) |
E1262G |
possibly damaging |
Het |
Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,476,297 (GRCm39) |
L15S |
probably benign |
Het |
Or52d3 |
C |
A |
7: 104,229,645 (GRCm39) |
S264* |
probably null |
Het |
Or5an1 |
G |
A |
19: 12,261,180 (GRCm39) |
G256D |
possibly damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,544 (GRCm39) |
M279K |
possibly damaging |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Or5m13 |
A |
T |
2: 85,748,718 (GRCm39) |
I150F |
probably benign |
Het |
Or6c5b |
A |
T |
10: 129,245,654 (GRCm39) |
T140S |
possibly damaging |
Het |
Pcbp2 |
T |
A |
15: 102,381,782 (GRCm39) |
V5E |
probably damaging |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pgghg |
A |
T |
7: 140,522,953 (GRCm39) |
Y104F |
probably benign |
Het |
Plscr2 |
T |
C |
9: 92,173,193 (GRCm39) |
|
probably null |
Het |
Ppfibp1 |
C |
T |
6: 146,879,551 (GRCm39) |
A25V |
probably damaging |
Het |
Ptgfr |
C |
T |
3: 151,541,034 (GRCm39) |
G158D |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,978,446 (GRCm39) |
F186S |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,564,956 (GRCm39) |
E181G |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,368,673 (GRCm39) |
K291E |
possibly damaging |
Het |
Rtn4rl1 |
T |
C |
11: 75,085,122 (GRCm39) |
|
probably null |
Het |
Sema3b |
T |
A |
9: 107,478,141 (GRCm39) |
M415L |
probably benign |
Het |
Sh3bp4 |
A |
G |
1: 89,073,216 (GRCm39) |
E688G |
probably damaging |
Het |
Slco6c1 |
G |
A |
1: 97,055,887 (GRCm39) |
R5C |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,181,227 (GRCm39) |
F369L |
possibly damaging |
Het |
Sphk2 |
T |
C |
7: 45,361,894 (GRCm39) |
N181S |
possibly damaging |
Het |
Sqor |
A |
G |
2: 122,641,730 (GRCm39) |
T235A |
probably benign |
Het |
St13 |
A |
G |
15: 81,273,854 (GRCm39) |
L80P |
probably damaging |
Het |
St3gal6 |
A |
G |
16: 58,314,074 (GRCm39) |
Y20H |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,234,239 (GRCm39) |
Y899D |
probably damaging |
Het |
Synm |
C |
T |
7: 67,385,128 (GRCm39) |
E845K |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,566,633 (GRCm39) |
D1227V |
possibly damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,438 (GRCm39) |
N306D |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,414,357 (GRCm39) |
N51Y |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,265,505 (GRCm39) |
D856G |
probably benign |
Het |
Vil1 |
G |
A |
1: 74,457,603 (GRCm39) |
A79T |
probably damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,746,271 (GRCm39) |
H37L |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,816,316 (GRCm39) |
M69K |
probably benign |
Het |
Ywhaq |
A |
G |
12: 21,444,982 (GRCm39) |
L221P |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,609,167 (GRCm39) |
Q1543* |
probably null |
Het |
Zfp384 |
T |
A |
6: 125,001,793 (GRCm39) |
M146K |
possibly damaging |
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 |
R4696:Abcc3
|
UTSW |
11 |
94,241,817 (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 |
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'- TTTCCCCATTCAGTAGAGGGAG -3'
(R):5'- ATGCCAACACAACCAGTTTG -3'
Sequencing Primer
(F):5'- CCCATTCAGTAGAGGGAGTGGAG -3'
(R):5'- CTTCTCCAAGGGTGCTACTGG -3'
|
Posted On |
2019-06-26 |