Incidental Mutation 'IGL02553:Abcc3'
| ID |
298546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcc3
|
| Ensembl Gene |
ENSMUSG00000020865 |
| Gene Name |
ATP-binding cassette, sub-family C member 3 |
| Synonyms |
1700019L09Rik, MRP3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94242750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1326
(S1326P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021231
AA Change: S1325P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: S1325P
| 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 damaging
Transcript: ENSMUST00000178136
AA Change: S1326P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: S1326P
| 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 |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
| Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
| Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
| Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
| Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
| Clk2 |
G |
A |
3: 89,083,020 (GRCm39) |
R432H |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
| Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,725,467 (GRCm39) |
D526G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
| Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
| Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
| Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,288,615 (GRCm39) |
T874A |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
| Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,220,914 (GRCm39) |
I398N |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
| Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
| Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
| Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
| Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
| Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
| Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
| Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
| Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
| Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
| Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
| Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,838 (GRCm39) |
N357S |
possibly damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation