Incidental Mutation 'R6518:Abcc12'
| ID |
543419 |
| 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 |
044645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
|
| DNA Base Change (assembly) |
A to G
at 87235718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
Q80WJ6 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,123,608 (GRCm39) |
D88G |
probably damaging |
Het |
| Angptl6 |
T |
C |
9: 20,786,656 (GRCm39) |
H330R |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,649,397 (GRCm39) |
V462E |
probably damaging |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,498,534 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
A |
17: 35,083,094 (GRCm39) |
I426F |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,179 (GRCm39) |
Y1049N |
probably damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,283 (GRCm39) |
M134K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,663,904 (GRCm39) |
D145G |
possibly damaging |
Het |
| Ckap2 |
A |
T |
8: 22,663,319 (GRCm39) |
I492K |
probably benign |
Het |
| Cog2 |
G |
A |
8: 125,253,842 (GRCm39) |
W67* |
probably null |
Het |
| Col7a1 |
T |
C |
9: 108,784,595 (GRCm39) |
F172L |
unknown |
Het |
| Dcaf1 |
T |
C |
9: 106,712,788 (GRCm39) |
I112T |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,741,081 (GRCm39) |
I518V |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,835,419 (GRCm39) |
L908P |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,479 (GRCm39) |
Y563H |
probably benign |
Het |
| Gm16686 |
A |
C |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,743,734 (GRCm39) |
F284I |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,428 (GRCm39) |
F553I |
possibly damaging |
Het |
| Igkv6-29 |
T |
A |
6: 70,115,497 (GRCm39) |
Q99L |
probably damaging |
Het |
| Lipt1 |
A |
G |
1: 37,914,856 (GRCm39) |
N304S |
probably benign |
Het |
| Lmo1 |
A |
C |
7: 108,742,783 (GRCm39) |
L39R |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,794,878 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,386,940 (GRCm39) |
T74A |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,716,501 (GRCm39) |
L624H |
probably damaging |
Het |
| Or11a4 |
G |
T |
17: 37,536,159 (GRCm39) |
A48S |
probably benign |
Het |
| Or13j1 |
A |
G |
4: 43,706,334 (GRCm39) |
V78A |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,077 (GRCm39) |
I115V |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,116 (GRCm39) |
Y153H |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,127,475 (GRCm39) |
*1064K |
probably null |
Het |
| Pias1 |
A |
G |
9: 62,859,142 (GRCm39) |
L113P |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,239,342 (GRCm39) |
I514N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,278 (GRCm39) |
T212A |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,900,691 (GRCm39) |
Y151C |
probably damaging |
Het |
| Samhd1 |
G |
A |
2: 156,956,217 (GRCm39) |
T325M |
possibly damaging |
Het |
| Seh1l |
A |
G |
18: 67,922,519 (GRCm39) |
T291A |
probably damaging |
Het |
| Smim24 |
A |
G |
10: 81,229,695 (GRCm39) |
M1V |
probably null |
Het |
| Sp140 |
TTTTTTTTTTTT |
TTTTTTTTTTTTTTTTT |
1: 85,572,291 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
A |
G |
4: 42,791,750 (GRCm39) |
I794T |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,845,462 (GRCm39) |
I165S |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,923,594 (GRCm39) |
|
probably null |
Het |
| Tmem17 |
A |
T |
11: 22,467,427 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Tmem86b |
A |
T |
7: 4,632,608 (GRCm39) |
C85* |
probably null |
Het |
| Try5 |
A |
G |
6: 41,291,613 (GRCm39) |
F6S |
probably benign |
Het |
| Vmn2r71 |
G |
T |
7: 85,270,436 (GRCm39) |
C534F |
probably damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,265,281 (GRCm39) |
D67E |
probably benign |
Het |
| Wars2 |
A |
T |
3: 99,124,116 (GRCm39) |
M326L |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,821 (GRCm39) |
S108R |
unknown |
Het |
| Zfp677 |
A |
G |
17: 21,618,392 (GRCm39) |
H483R |
probably 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 |
|
|
R0308:Abcc12
|
UTSW |
8 |
87,284,381 (GRCm39) |
splice site |
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 |
|
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'- TAGCTTCTGAAATACCAGCAAGG -3'
(R):5'- AGCTGATGAGGGAGTCACTG -3'
Sequencing Primer
(F):5'- AAGGCTCAGGACGCTGTTC -3'
(R):5'- AGGGAGTCACTGTTCCTGCTC -3'
|
| Posted On |
2018-11-29 |
Incidental Mutation