Incidental Mutation 'R5682:Abcc3'
| ID |
443140 |
| 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 |
043318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5682 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94283723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 7
(S7T)
|
| 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: S7T
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: S7T
| 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: ENSMUST00000126566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: S7T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: S7T
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
G |
A |
12: 84,085,576 (GRCm39) |
V98M |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,162,774 (GRCm39) |
N41I |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,255,758 (GRCm39) |
N1590I |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,729,347 (GRCm39) |
G714R |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,989,043 (GRCm39) |
D642G |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,914,914 (GRCm39) |
R1848Q |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,081,730 (GRCm39) |
Y141N |
probably damaging |
Het |
| Atxn3 |
A |
T |
12: 101,924,406 (GRCm39) |
I1N |
probably damaging |
Het |
| Avil |
A |
C |
10: 126,849,973 (GRCm39) |
Q608P |
probably damaging |
Het |
| Axin1 |
T |
C |
17: 26,406,775 (GRCm39) |
V456A |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,349,940 (GRCm39) |
L635P |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,888,666 (GRCm39) |
Q231* |
probably null |
Het |
| Ccdc162 |
G |
A |
10: 41,432,799 (GRCm39) |
R500* |
probably null |
Het |
| Cdh24 |
T |
C |
14: 54,874,805 (GRCm39) |
D400G |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,361,138 (GRCm39) |
L164P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,579,497 (GRCm39) |
S224P |
possibly damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,097,953 (GRCm39) |
Y371C |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,480 (GRCm39) |
E405V |
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,709,085 (GRCm39) |
M708K |
probably damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,268,429 (GRCm39) |
Y432F |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,800,883 (GRCm39) |
V113E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,067,383 (GRCm39) |
I88T |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,330 (GRCm39) |
F406L |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,125,592 (GRCm39) |
Q648* |
probably null |
Het |
| Fam171a1 |
G |
A |
2: 3,227,126 (GRCm39) |
R753Q |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,604 (GRCm39) |
V86E |
probably damaging |
Het |
| Galnt7 |
C |
A |
8: 58,036,967 (GRCm39) |
E141* |
probably null |
Het |
| Garnl3 |
A |
G |
2: 32,944,185 (GRCm39) |
Y125H |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,234,523 (GRCm39) |
D74G |
probably damaging |
Het |
| Grk1 |
A |
T |
8: 13,464,351 (GRCm39) |
I408F |
possibly damaging |
Het |
| Has1 |
A |
T |
17: 18,064,425 (GRCm39) |
W405R |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,104,749 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
A |
5: 100,933,170 (GRCm39) |
M555L |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,714,408 (GRCm39) |
N556S |
possibly damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,968,949 (GRCm39) |
S144P |
probably damaging |
Het |
| Itgb1 |
G |
A |
8: 129,453,549 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
T |
11: 100,640,628 (GRCm39) |
M466K |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,880,737 (GRCm39) |
N565K |
probably damaging |
Het |
| Limk1 |
A |
C |
5: 134,694,059 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
T |
C |
3: 106,639,884 (GRCm39) |
I323T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,552 (GRCm39) |
E1811G |
probably damaging |
Het |
| Mctp2 |
A |
C |
7: 71,895,207 (GRCm39) |
|
probably null |
Het |
| Mmp21 |
A |
G |
7: 133,276,358 (GRCm39) |
I495T |
probably benign |
Het |
| Mpz |
A |
T |
1: 170,986,463 (GRCm39) |
T126S |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,234,768 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,170,474 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,510,155 (GRCm39) |
E47G |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,424 (GRCm39) |
I146V |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,502 (GRCm39) |
K198E |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,040 (GRCm39) |
D594G |
probably damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,613 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,865,685 (GRCm39) |
S166T |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,516 (GRCm39) |
Y166C |
probably damaging |
Het |
| Prkch |
C |
T |
12: 73,744,724 (GRCm39) |
H246Y |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,413 (GRCm39) |
L562* |
probably null |
Het |
| Rab3ip |
C |
T |
10: 116,743,008 (GRCm39) |
W439* |
probably null |
Het |
| Rasef |
T |
A |
4: 73,659,208 (GRCm39) |
R435* |
probably null |
Het |
| Rnf103 |
C |
T |
6: 71,485,708 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,765 (GRCm39) |
F388L |
probably benign |
Het |
| Sds |
A |
C |
5: 120,621,784 (GRCm39) |
S309R |
possibly damaging |
Het |
| Sgip1 |
T |
A |
4: 102,824,847 (GRCm39) |
D736E |
possibly damaging |
Het |
| Sgms2 |
A |
G |
3: 131,118,611 (GRCm39) |
Y291H |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,895,661 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
T |
A |
2: 130,925,930 (GRCm39) |
I259F |
probably damaging |
Het |
| Sik2 |
G |
A |
9: 50,828,382 (GRCm39) |
P220L |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,551,991 (GRCm39) |
V351A |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,016,489 (GRCm39) |
S369P |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,640,919 (GRCm39) |
M649K |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,879 (GRCm39) |
E211G |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,733,207 (GRCm39) |
|
probably null |
Het |
| Tpgs1 |
G |
A |
10: 79,511,421 (GRCm39) |
V188M |
probably damaging |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,355 (GRCm39) |
V190F |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,622 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,791,252 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,031,125 (GRCm39) |
Y134C |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,412,521 (GRCm39) |
C3263* |
probably null |
Het |
| Zc3h12c |
G |
T |
9: 52,037,876 (GRCm39) |
D301E |
probably damaging |
Het |
| Zfp365 |
A |
C |
10: 67,745,637 (GRCm39) |
L47R |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 126,998,200 (GRCm39) |
P412L |
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 |
|
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'- TCCCAGGTCTGACTATGCAC -3'
(R):5'- TAGGTACCAGCACTTTTACCAAGG -3'
Sequencing Primer
(F):5'- AGGTCTGACTATGCACATCCG -3'
(R):5'- ACCAAGGCTGTGTTGCAATC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation