Incidental Mutation 'R3911:Abcc12'
| ID |
309396 |
| 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 |
040909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 87255048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[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: ENSMUST00000156066
|
| SMART Domains |
Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
78 |
363 |
3.8e-35 |
PFAM |
|
Pfam:ABC_tran
|
430 |
508 |
5.7e-16 |
PFAM |
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (71/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
A |
5: 124,227,909 (GRCm39) |
I111F |
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,754,860 (GRCm39) |
V653L |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,593,707 (GRCm39) |
D230E |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Casp8 |
A |
T |
1: 58,872,864 (GRCm39) |
S267C |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cd2ap |
T |
A |
17: 43,126,980 (GRCm39) |
|
probably null |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,728,897 (GRCm39) |
E1155D |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,866,375 (GRCm39) |
E841G |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,010,061 (GRCm39) |
R245H |
probably damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,842 (GRCm39) |
S128T |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,712,579 (GRCm39) |
I196N |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
A |
T |
9: 57,655,686 (GRCm39) |
I479F |
possibly damaging |
Het |
| Emg1 |
T |
A |
6: 124,682,009 (GRCm39) |
M172L |
probably benign |
Het |
| Epha7 |
G |
A |
4: 28,938,680 (GRCm39) |
V512I |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,197,731 (GRCm39) |
D27G |
probably benign |
Het |
| Fasl |
C |
A |
1: 161,615,760 (GRCm39) |
C32F |
probably benign |
Het |
| Flg |
A |
T |
3: 93,187,307 (GRCm39) |
H253L |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm17067 |
T |
A |
7: 42,360,104 (GRCm39) |
I43L |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,146,305 (GRCm39) |
Y183C |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,516,392 (GRCm39) |
P327T |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,494,477 (GRCm39) |
M1T |
probably null |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
A |
12: 119,131,740 (GRCm39) |
E635V |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,245,982 (GRCm39) |
V469A |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,329 (GRCm39) |
T317I |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
T |
9: 110,265,151 (GRCm39) |
L285Q |
probably damaging |
Het |
| Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,670,863 (GRCm39) |
C203S |
unknown |
Het |
| Lsp1 |
C |
T |
7: 142,040,098 (GRCm39) |
S75F |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,567,580 (GRCm39) |
S1714P |
unknown |
Het |
| Mcm2 |
A |
G |
6: 88,865,234 (GRCm39) |
I481T |
probably damaging |
Het |
| Mcpt9 |
T |
C |
14: 56,265,136 (GRCm39) |
T122A |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,422,465 (GRCm39) |
R947W |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,586,616 (GRCm39) |
N10Y |
possibly damaging |
Het |
| Pank4 |
A |
G |
4: 155,054,058 (GRCm39) |
Y79C |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,670,171 (GRCm39) |
N386K |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,022,928 (GRCm39) |
M362V |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Pou4f1 |
C |
T |
14: 104,703,611 (GRCm39) |
A274T |
unknown |
Het |
| Proc |
A |
G |
18: 32,256,758 (GRCm39) |
L303P |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,517 (GRCm39) |
G821D |
possibly damaging |
Het |
| Rlim |
T |
C |
X: 103,006,267 (GRCm39) |
T545A |
probably benign |
Het |
| Serpinb6c |
T |
C |
13: 34,077,888 (GRCm39) |
N161D |
probably benign |
Het |
| Sf3b1 |
G |
A |
1: 55,058,548 (GRCm39) |
Q14* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,014,534 (GRCm39) |
V442M |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,185,097 (GRCm39) |
I140V |
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Strap |
T |
G |
6: 137,712,380 (GRCm39) |
C10G |
probably damaging |
Het |
| Tcf7 |
C |
A |
11: 52,173,793 (GRCm39) |
|
probably benign |
Het |
| Tmem114 |
A |
T |
16: 8,230,054 (GRCm39) |
M116K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,988,884 (GRCm39) |
S113P |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
T |
C |
15: 102,022,272 (GRCm39) |
|
probably null |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,151 (GRCm39) |
V791D |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,635 (GRCm39) |
F785S |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,036,077 (GRCm39) |
I283F |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,672,219 (GRCm39) |
A166E |
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 |
|
|
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 |
|
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'- ACGCCATCAGTGTAGTGTTGG -3'
(R):5'- TGCATGTATGTAGGCACTTGC -3'
Sequencing Primer
(F):5'- TAGTGTTGGTGAAGGTAAAGCC -3'
(R):5'- CCAAGTCTTCATACTGGGGTTACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation