Incidental Mutation 'R7851:Abcc3'
| ID |
606946 |
| 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 |
045904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94234121-94283823 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 94250486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 905
(L905*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021231]
[ENSMUST00000178136]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021231
AA Change: L904*
|
| SMART Domains |
Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: L904*
| 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 null
Transcript: ENSMUST00000178136
AA Change: L905*
|
| SMART Domains |
Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: L905*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,300,838 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,687 (GRCm39) |
D401A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,799,444 (GRCm39) |
K918E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,468,034 (GRCm39) |
N1722S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,498,409 (GRCm39) |
I481V |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,650,279 (GRCm39) |
I756T |
possibly damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
A |
G |
17: 43,135,363 (GRCm39) |
|
probably null |
Het |
| Cnn3 |
T |
A |
3: 121,250,992 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,373,337 (GRCm39) |
S22L |
possibly damaging |
Het |
| Coq6 |
A |
T |
12: 84,418,929 (GRCm39) |
H311L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,137 (GRCm39) |
N350S |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,600 (GRCm39) |
N253K |
probably benign |
Het |
| Dok7 |
T |
A |
5: 35,214,280 (GRCm39) |
M1K |
probably null |
Het |
| Eogt |
T |
A |
6: 97,097,162 (GRCm39) |
E313D |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,951 (GRCm39) |
S430P |
probably damaging |
Het |
| Gfod2 |
T |
A |
8: 106,454,762 (GRCm39) |
E39D |
probably benign |
Het |
| Gfral |
T |
C |
9: 76,112,737 (GRCm39) |
N65D |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,595 (GRCm39) |
L62* |
probably null |
Het |
| Gyg1 |
T |
G |
3: 20,176,911 (GRCm39) |
M360L |
probably benign |
Het |
| Hsp90ab1 |
A |
T |
17: 45,881,378 (GRCm39) |
S255T |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,734,497 (GRCm39) |
D143E |
probably benign |
Het |
| Ipp |
C |
T |
4: 116,372,672 (GRCm39) |
Q234* |
probably null |
Het |
| Ism1 |
A |
T |
2: 139,599,185 (GRCm39) |
D386V |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,354 (GRCm39) |
T436A |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,003,494 (GRCm39) |
I125S |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,190,508 (GRCm39) |
E1003V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,043,076 (GRCm39) |
I6785F |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,436,655 (GRCm39) |
T10I |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,827 (GRCm39) |
T284A |
probably damaging |
Het |
| Or11h4b |
A |
G |
14: 50,918,915 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,428 (GRCm39) |
Y123* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,789 (GRCm39) |
V333A |
probably benign |
Het |
| Or6c5c |
G |
T |
10: 129,299,429 (GRCm39) |
V295L |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,416,945 (GRCm39) |
T86S |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,264,236 (GRCm39) |
M168K |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,227,613 (GRCm39) |
L259P |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,855 (GRCm39) |
S1350G |
probably damaging |
Het |
| Prickle1 |
G |
A |
15: 93,398,440 (GRCm39) |
T796I |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,879,843 (GRCm39) |
I138M |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,732,482 (GRCm39) |
E958G |
probably benign |
Het |
| Rcn3 |
A |
T |
7: 44,736,236 (GRCm39) |
D157E |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,412,540 (GRCm39) |
S534P |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,862 (GRCm39) |
T3371A |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,446,828 (GRCm39) |
V1399D |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,489,147 (GRCm39) |
T185A |
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,894,954 (GRCm39) |
V607M |
probably damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,752 (GRCm39) |
Y581C |
probably damaging |
Het |
| Snx8 |
C |
A |
5: 140,343,914 (GRCm39) |
V101L |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,634,647 (GRCm39) |
K180M |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,083,438 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
A |
G |
11: 116,576,764 (GRCm39) |
S86P |
probably benign |
Het |
| Sybu |
G |
A |
15: 44,609,852 (GRCm39) |
Q139* |
probably null |
Het |
| Tas2r114 |
T |
A |
6: 131,666,888 (GRCm39) |
I47F |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,747 (GRCm39) |
D19G |
probably benign |
Het |
| Terb2 |
T |
C |
2: 122,016,794 (GRCm39) |
F9L |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,307 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,255 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,014 (GRCm39) |
F1001S |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,539 (GRCm39) |
T99I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,853,398 (GRCm39) |
T33S |
probably benign |
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 |
|
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 |
|
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'- TCTTCATGATCCCGGGGAAC -3'
(R):5'- AATGAGCCAGCCATCTACGAG -3'
Sequencing Primer
(F):5'- GGAACCTAATCATCTACCCCAGG -3'
(R):5'- CAAGCAGTTCATGAGGTAGATTCCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation