Incidental Mutation 'R5816:Abcc3'
ID |
449056 |
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 |
043214-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5816 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94234563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1501
(D1501G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021227]
[ENSMUST00000021231]
[ENSMUST00000051221]
[ENSMUST00000107818]
[ENSMUST00000178136]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021227
|
SMART Domains |
Protein: ENSMUSP00000021227 Gene: ENSMUSG00000020864
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
7.29e2 |
SMART |
ANK
|
43 |
72 |
3.57e-6 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
low complexity region
|
234 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021231
AA Change: D1500G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000021231 Gene: ENSMUSG00000020865 AA Change: D1500G
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: ENSMUST00000051221
|
SMART Domains |
Protein: ENSMUSP00000061637 Gene: ENSMUSG00000020864
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
7.29e2 |
SMART |
ANK
|
43 |
72 |
3.57e-6 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
low complexity region
|
234 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107818
|
SMART Domains |
Protein: ENSMUSP00000103448 Gene: ENSMUSG00000020864
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
7.29e2 |
SMART |
ANK
|
43 |
72 |
3.57e-6 |
SMART |
low complexity region
|
144 |
168 |
N/A |
INTRINSIC |
low complexity region
|
234 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140985
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178136
AA Change: D1501G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136343 Gene: ENSMUSG00000020865 AA Change: D1501G
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,749,143 (GRCm39) |
E87K |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,757,710 (GRCm39) |
R251G |
probably benign |
Het |
Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
Kcng1 |
C |
T |
2: 168,110,643 (GRCm39) |
E174K |
possibly damaging |
Het |
Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
Mllt6 |
A |
G |
11: 97,563,400 (GRCm39) |
K328E |
probably damaging |
Het |
Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,413,162 (GRCm39) |
V742E |
possibly damaging |
Het |
S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
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 |
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 |
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'- AGAGCGTGGCTTTGAACTG -3'
(R):5'- AAGTGTGCATGTGTGGCCTATC -3'
Sequencing Primer
(F):5'- TGAACTGGCTGTGATCTCTAAC -3'
(R):5'- GCATGTGTGGCCTATCAGTTG -3'
|
Posted On |
2016-12-20 |