Incidental Mutation 'R0308:Abcc12'
ID |
24973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc12
|
Ensembl Gene |
ENSMUSG00000036872 |
Gene Name |
ATP-binding cassette, sub-family C member 12 |
Synonyms |
MRP9, 4930467B22Rik |
MMRRC Submission |
038518-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R0308 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 87284381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000152438]
[ENSMUST00000156610]
|
AlphaFold |
Q80WJ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080115
|
SMART Domains |
Protein: ENSMUSP00000079014 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
3.6e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
791 |
1079 |
1.3e-26 |
PFAM |
AAA
|
1153 |
1346 |
1.07e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129898
|
SMART Domains |
Protein: ENSMUSP00000122577 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131423
|
SMART Domains |
Protein: ENSMUSP00000122402 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.1e-21 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
792 |
1077 |
1.6e-34 |
PFAM |
AAA
|
1153 |
1346 |
1.07e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131806
|
SMART Domains |
Protein: ENSMUSP00000116866 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.3e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
low complexity region
|
739 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152438
|
SMART Domains |
Protein: ENSMUSP00000114582 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
1.2e-19 |
PFAM |
AAA
|
506 |
679 |
3.33e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156610
|
SMART Domains |
Protein: ENSMUSP00000123578 Gene: ENSMUSG00000036872
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
123 |
392 |
5.9e-20 |
PFAM |
AAA
|
506 |
661 |
1.07e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.5%
|
Validation Efficiency |
100% (82/82) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
T |
4: 39,450,989 (GRCm39) |
D65V |
probably damaging |
Het |
4933407L21Rik |
A |
T |
1: 85,859,007 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,311,646 (GRCm39) |
E1301G |
probably damaging |
Het |
Adh4 |
A |
T |
3: 138,129,863 (GRCm39) |
N230Y |
probably damaging |
Het |
Anapc15-ps |
T |
A |
10: 95,508,954 (GRCm39) |
M109L |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,141 (GRCm39) |
I472V |
possibly damaging |
Het |
Arhgef26 |
C |
A |
3: 62,247,820 (GRCm39) |
D301E |
probably benign |
Het |
Armc10 |
G |
A |
5: 21,852,295 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
C |
9: 53,365,773 (GRCm39) |
|
probably null |
Het |
Atp5f1b |
T |
C |
10: 127,921,908 (GRCm39) |
V265A |
probably benign |
Het |
Atp8b1 |
G |
T |
18: 64,678,315 (GRCm39) |
C860* |
probably null |
Het |
Atrnl1 |
T |
G |
19: 57,741,720 (GRCm39) |
S1160A |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,890,743 (GRCm39) |
I179F |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,048,659 (GRCm39) |
E105G |
possibly damaging |
Het |
Cfap54 |
C |
A |
10: 92,721,226 (GRCm39) |
D2502Y |
unknown |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,759,786 (GRCm39) |
D282G |
possibly damaging |
Het |
Csrp1 |
C |
A |
1: 135,673,024 (GRCm39) |
T47N |
probably damaging |
Het |
Cyp2c40 |
T |
A |
19: 39,766,432 (GRCm39) |
I388F |
probably damaging |
Het |
Dars1 |
C |
T |
1: 128,291,996 (GRCm39) |
R494H |
probably damaging |
Het |
Dna2 |
T |
C |
10: 62,792,753 (GRCm39) |
V256A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,873,051 (GRCm39) |
T1132A |
probably benign |
Het |
Dpcd |
T |
G |
19: 45,565,445 (GRCm39) |
F140V |
probably damaging |
Het |
Elk3 |
A |
T |
10: 93,101,067 (GRCm39) |
M228K |
probably benign |
Het |
Erich6 |
A |
G |
3: 58,543,525 (GRCm39) |
F182L |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,712,904 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,198,947 (GRCm39) |
|
probably benign |
Het |
Fzd9 |
A |
T |
5: 135,278,260 (GRCm39) |
C542S |
probably damaging |
Het |
Gba1 |
A |
G |
3: 89,115,671 (GRCm39) |
T460A |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,769,792 (GRCm39) |
A587T |
probably benign |
Het |
Gm11011 |
C |
T |
2: 169,424,614 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
G |
9: 107,927,033 (GRCm39) |
E68G |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,146,818 (GRCm39) |
N260S |
possibly damaging |
Het |
Hipk3 |
G |
A |
2: 104,263,552 (GRCm39) |
S900L |
probably damaging |
Het |
Idi2l |
T |
G |
13: 8,990,877 (GRCm39) |
|
probably benign |
Het |
Ints6l |
A |
T |
X: 55,526,715 (GRCm39) |
M215L |
possibly damaging |
Het |
Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,558,780 (GRCm39) |
S373P |
probably damaging |
Het |
Jak1 |
T |
C |
4: 101,011,732 (GRCm39) |
|
probably null |
Het |
Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
Katnal1 |
A |
T |
5: 148,815,734 (GRCm39) |
V401D |
possibly damaging |
Het |
Krbox5 |
A |
G |
13: 67,991,232 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,326 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,710,738 (GRCm39) |
H7R |
probably benign |
Het |
Mrgprx3-ps |
A |
G |
7: 46,959,766 (GRCm39) |
V75A |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,123,584 (GRCm39) |
A55T |
probably benign |
Het |
Opa1 |
G |
A |
16: 29,440,349 (GRCm39) |
R818Q |
probably damaging |
Het |
Opn4 |
T |
C |
14: 34,319,081 (GRCm39) |
Y168C |
possibly damaging |
Het |
Or8b35 |
A |
G |
9: 37,904,141 (GRCm39) |
I118V |
probably benign |
Het |
Phf21a |
T |
C |
2: 92,161,122 (GRCm39) |
V330A |
possibly damaging |
Het |
Phykpl |
A |
G |
11: 51,484,423 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
G |
2: 134,655,534 (GRCm39) |
V38G |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,214,703 (GRCm39) |
T593S |
probably benign |
Het |
Poll |
A |
T |
19: 45,544,404 (GRCm39) |
I339N |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,700,890 (GRCm39) |
I1796V |
probably benign |
Het |
Rnf103 |
G |
A |
6: 71,486,686 (GRCm39) |
R439H |
probably damaging |
Het |
Rrn3 |
G |
A |
16: 13,617,746 (GRCm39) |
|
probably benign |
Het |
Sec14l4 |
G |
A |
11: 3,991,726 (GRCm39) |
|
probably benign |
Het |
Sec23a |
A |
C |
12: 59,053,985 (GRCm39) |
Y4* |
probably null |
Het |
Senp6 |
T |
C |
9: 80,040,265 (GRCm39) |
|
probably null |
Het |
Serpinb6b |
A |
T |
13: 33,162,220 (GRCm39) |
N221Y |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,687,988 (GRCm39) |
E38G |
possibly damaging |
Het |
Smap1 |
A |
T |
1: 23,888,423 (GRCm39) |
L196I |
probably damaging |
Het |
Sorbs2 |
C |
T |
8: 46,248,167 (GRCm39) |
Q473* |
probably null |
Het |
Sphkap |
C |
A |
1: 83,254,690 (GRCm39) |
V1020F |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,614 (GRCm39) |
V225A |
probably benign |
Het |
Srprb |
G |
A |
9: 103,079,204 (GRCm39) |
P728S |
possibly damaging |
Het |
Tarm1 |
T |
C |
7: 3,545,187 (GRCm39) |
|
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,139,306 (GRCm39) |
I162N |
probably benign |
Het |
Tmem237 |
C |
A |
1: 59,146,676 (GRCm39) |
A292S |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,983,011 (GRCm39) |
F884L |
probably damaging |
Het |
Trim7 |
A |
G |
11: 48,740,328 (GRCm39) |
T142A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,616,024 (GRCm39) |
I14894F |
probably damaging |
Het |
Tubgcp6 |
T |
C |
15: 89,006,639 (GRCm39) |
R128G |
possibly damaging |
Het |
Ube2d2b |
A |
G |
5: 107,978,774 (GRCm39) |
T142A |
possibly damaging |
Het |
Unc13c |
G |
T |
9: 73,388,400 (GRCm39) |
L2129I |
probably benign |
Het |
Ushbp1 |
T |
C |
8: 71,843,697 (GRCm39) |
D247G |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,770,966 (GRCm39) |
A556V |
probably damaging |
Het |
Zfp438 |
T |
A |
18: 5,213,638 (GRCm39) |
H440L |
probably benign |
Het |
Zfp518b |
C |
T |
5: 38,830,113 (GRCm39) |
E631K |
possibly damaging |
Het |
|
Other mutations in Abcc12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Abcc12
|
APN |
8 |
87,261,322 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01504:Abcc12
|
APN |
8 |
87,284,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01593:Abcc12
|
APN |
8 |
87,284,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02164:Abcc12
|
APN |
8 |
87,254,033 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02173:Abcc12
|
APN |
8 |
87,293,071 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02175:Abcc12
|
APN |
8 |
87,261,642 (GRCm39) |
splice site |
probably null |
|
IGL02405:Abcc12
|
APN |
8 |
87,284,782 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02620:Abcc12
|
APN |
8 |
87,231,943 (GRCm39) |
splice site |
probably null |
|
IGL02635:Abcc12
|
APN |
8 |
87,236,311 (GRCm39) |
splice site |
probably benign |
|
IGL03241:Abcc12
|
APN |
8 |
87,236,436 (GRCm39) |
missense |
possibly damaging |
0.77 |
PIT4544001:Abcc12
|
UTSW |
8 |
87,231,875 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0023:Abcc12
|
UTSW |
8 |
87,264,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Abcc12
|
UTSW |
8 |
87,264,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Abcc12
|
UTSW |
8 |
87,261,627 (GRCm39) |
missense |
probably benign |
0.00 |
R0131:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0131:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0132:Abcc12
|
UTSW |
8 |
87,258,197 (GRCm39) |
missense |
probably benign |
|
R0589:Abcc12
|
UTSW |
8 |
87,287,101 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1451:Abcc12
|
UTSW |
8 |
87,284,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1564:Abcc12
|
UTSW |
8 |
87,244,115 (GRCm39) |
missense |
probably benign |
0.10 |
R1740:Abcc12
|
UTSW |
8 |
87,236,400 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1740:Abcc12
|
UTSW |
8 |
87,232,126 (GRCm39) |
nonsense |
probably null |
|
R1970:Abcc12
|
UTSW |
8 |
87,253,910 (GRCm39) |
missense |
probably benign |
0.27 |
R2017:Abcc12
|
UTSW |
8 |
87,290,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Abcc12
|
UTSW |
8 |
87,284,862 (GRCm39) |
missense |
probably benign |
0.30 |
R2402:Abcc12
|
UTSW |
8 |
87,235,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Abcc12
|
UTSW |
8 |
87,270,536 (GRCm39) |
splice site |
probably benign |
|
R3115:Abcc12
|
UTSW |
8 |
87,266,653 (GRCm39) |
critical splice donor site |
probably null |
|
R3176:Abcc12
|
UTSW |
8 |
87,233,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R3276:Abcc12
|
UTSW |
8 |
87,233,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Abcc12
|
UTSW |
8 |
87,280,020 (GRCm39) |
missense |
probably benign |
0.05 |
R3911:Abcc12
|
UTSW |
8 |
87,255,048 (GRCm39) |
splice site |
probably benign |
|
R4031:Abcc12
|
UTSW |
8 |
87,244,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R4297:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4298:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4299:Abcc12
|
UTSW |
8 |
87,258,154 (GRCm39) |
splice site |
probably null |
|
R4688:Abcc12
|
UTSW |
8 |
87,275,323 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4810:Abcc12
|
UTSW |
8 |
87,287,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Abcc12
|
UTSW |
8 |
87,265,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R4892:Abcc12
|
UTSW |
8 |
87,236,431 (GRCm39) |
missense |
probably benign |
0.28 |
R5288:Abcc12
|
UTSW |
8 |
87,293,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5303:Abcc12
|
UTSW |
8 |
87,236,415 (GRCm39) |
missense |
probably benign |
0.15 |
R5332:Abcc12
|
UTSW |
8 |
87,251,459 (GRCm39) |
splice site |
probably null |
|
R5386:Abcc12
|
UTSW |
8 |
87,244,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5457:Abcc12
|
UTSW |
8 |
87,236,473 (GRCm39) |
missense |
probably benign |
0.03 |
R5900:Abcc12
|
UTSW |
8 |
87,293,149 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6035:Abcc12
|
UTSW |
8 |
87,244,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R6035:Abcc12
|
UTSW |
8 |
87,244,033 (GRCm39) |
missense |
probably damaging |
0.98 |
R6291:Abcc12
|
UTSW |
8 |
87,293,173 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6518:Abcc12
|
UTSW |
8 |
87,235,718 (GRCm39) |
|
|
|
R6677:Abcc12
|
UTSW |
8 |
87,261,381 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7258:Abcc12
|
UTSW |
8 |
87,287,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7411:Abcc12
|
UTSW |
8 |
87,287,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7619:Abcc12
|
UTSW |
8 |
87,293,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Abcc12
|
UTSW |
8 |
87,234,568 (GRCm39) |
missense |
probably benign |
0.03 |
R7828:Abcc12
|
UTSW |
8 |
87,254,904 (GRCm39) |
missense |
probably benign |
0.08 |
R7834:Abcc12
|
UTSW |
8 |
87,284,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R7834:Abcc12
|
UTSW |
8 |
87,258,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7939:Abcc12
|
UTSW |
8 |
87,275,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Abcc12
|
UTSW |
8 |
87,232,108 (GRCm39) |
missense |
probably benign |
0.02 |
R8290:Abcc12
|
UTSW |
8 |
87,238,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R8681:Abcc12
|
UTSW |
8 |
87,231,908 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8795:Abcc12
|
UTSW |
8 |
87,258,213 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8811:Abcc12
|
UTSW |
8 |
87,280,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Abcc12
|
UTSW |
8 |
87,243,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Abcc12
|
UTSW |
8 |
87,287,440 (GRCm39) |
missense |
probably benign |
0.45 |
R9711:Abcc12
|
UTSW |
8 |
87,275,388 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Abcc12
|
UTSW |
8 |
87,279,920 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Abcc12
|
UTSW |
8 |
87,286,908 (GRCm39) |
splice site |
probably null |
|
Z1176:Abcc12
|
UTSW |
8 |
87,277,230 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcc12
|
UTSW |
8 |
87,254,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGAAGAACCCCTTAAGAGCACG -3'
(R):5'- TGACAGATTCCCAGTGGTTTCCTCC -3'
Sequencing Primer
(F):5'- GCTCCACCCATGTAAGTGC -3'
(R):5'- TGGTTTCCTCCAGGCCAAG -3'
|
Posted On |
2013-04-16 |