Incidental Mutation 'R1842:Abcc3'
| ID |
205831 |
| 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 |
039867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94250438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 921
(T921I)
|
| 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: T920I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: T920I
| 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: ENSMUST00000155253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178136
AA Change: T921I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: T921I
| 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: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,087,865 (GRCm39) |
N1087K |
probably benign |
Het |
| Abr |
T |
A |
11: 76,399,812 (GRCm39) |
I4F |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,330,812 (GRCm39) |
V25D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,231 (GRCm39) |
M1505K |
probably damaging |
Het |
| Alms1-ps2 |
T |
C |
6: 85,773,231 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
C |
G |
12: 8,061,559 (GRCm39) |
T3347S |
probably damaging |
Het |
| Arhgap27 |
C |
A |
11: 103,230,822 (GRCm39) |
G11W |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,393,605 (GRCm39) |
I106F |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,806 (GRCm39) |
D101V |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,188,324 (GRCm39) |
E566G |
probably benign |
Het |
| Cenpm |
T |
C |
15: 82,123,565 (GRCm39) |
S111G |
probably benign |
Het |
| Cep55 |
A |
G |
19: 38,046,348 (GRCm39) |
I34V |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,585 (GRCm39) |
L190S |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,203,200 (GRCm39) |
N703S |
probably null |
Het |
| E030025P04Rik |
G |
A |
11: 109,030,396 (GRCm39) |
L164F |
unknown |
Het |
| Efcab5 |
A |
G |
11: 77,025,701 (GRCm39) |
V538A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,422 (GRCm39) |
S177P |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,775,958 (GRCm39) |
C31S |
probably damaging |
Het |
| Eif2d |
C |
A |
1: 131,098,797 (GRCm39) |
Q532K |
probably damaging |
Het |
| Elf3 |
T |
C |
1: 135,184,531 (GRCm39) |
D175G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,012,129 (GRCm39) |
V449A |
probably damaging |
Het |
| Fam110a |
A |
T |
2: 151,811,954 (GRCm39) |
I272N |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,768,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,058 (GRCm39) |
L132P |
probably damaging |
Het |
| Frg2f1 |
A |
T |
4: 119,388,277 (GRCm39) |
V74D |
possibly damaging |
Het |
| Gad1 |
G |
T |
2: 70,404,597 (GRCm39) |
E162D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,177,104 (GRCm39) |
V444A |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,076 (GRCm39) |
T147I |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,425,602 (GRCm39) |
I276V |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,244 (GRCm39) |
H1314R |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,112,544 (GRCm39) |
I836T |
probably damaging |
Het |
| Hspa5 |
A |
G |
2: 34,665,815 (GRCm39) |
D553G |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,410,631 (GRCm39) |
I194N |
probably damaging |
Het |
| Kansl3 |
A |
G |
1: 36,390,825 (GRCm39) |
V304A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,798 (GRCm39) |
S716L |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,409,337 (GRCm39) |
I1594T |
possibly damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,464,152 (GRCm39) |
D15G |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,686,588 (GRCm39) |
L170P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,037 (GRCm39) |
F1108L |
possibly damaging |
Het |
| Mettl5 |
G |
T |
2: 69,715,686 (GRCm39) |
L6I |
unknown |
Het |
| Mfsd14a |
A |
T |
3: 116,426,057 (GRCm39) |
F447I |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,228,546 (GRCm39) |
I642V |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,851,547 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,258 (GRCm39) |
E723K |
probably damaging |
Het |
| Nsun3 |
A |
T |
16: 62,596,755 (GRCm39) |
L121H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,288 (GRCm39) |
M284K |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,603,242 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
T |
18: 7,223,551 (GRCm39) |
D497E |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,759,601 (GRCm39) |
N8Y |
probably damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,471 (GRCm39) |
M286K |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,912 (GRCm39) |
E288G |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,381 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
G |
A |
7: 88,099,730 (GRCm39) |
E82K |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,675,543 (GRCm39) |
E206V |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,533,668 (GRCm39) |
F295L |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,384,063 (GRCm39) |
V521I |
probably damaging |
Het |
| Sgpp1 |
C |
T |
12: 75,762,982 (GRCm39) |
V400M |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,681,891 (GRCm39) |
S152P |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,709,477 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
T |
C |
13: 59,890,320 (GRCm39) |
Y82C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,513 (GRCm39) |
K640R |
probably benign |
Het |
| Svil |
A |
G |
18: 5,062,373 (GRCm39) |
T898A |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,510 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,447,650 (GRCm39) |
S127P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,649 (GRCm39) |
V493D |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,989,988 (GRCm39) |
V288A |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,558 (GRCm39) |
R2239W |
probably damaging |
Het |
| Zscan2 |
A |
C |
7: 80,525,301 (GRCm39) |
K341Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACCTGTAAGGAGTGGCC -3'
(R):5'- CAAGCAGTTCATGAGGTAGATTCC -3'
Sequencing Primer
(F):5'- GGCCACACCATCTTCATGATC -3'
(R):5'- GAGGTAGATTCCCAAGAGTTCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation