Incidental Mutation 'R6035:Abcc12'
ID |
479152 |
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 |
044207-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R6035 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87244033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1040
(M1040T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000156610]
|
AlphaFold |
Q80WJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080115
AA Change: M1040T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079014 Gene: ENSMUSG00000036872 AA Change: M1040T
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 damaging
Transcript: ENSMUST00000131423
AA Change: M1040T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122402 Gene: ENSMUSG00000036872 AA Change: M1040T
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 |
unknown
Transcript: ENSMUST00000156066
AA Change: M325T
|
SMART Domains |
Protein: ENSMUSP00000120282 Gene: ENSMUSG00000036872 AA Change: M325T
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 |
|
Meta Mutation Damage Score |
0.1779 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 98.9%
- 10x: 91.8%
- 20x: 70.9%
|
Validation Efficiency |
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
T |
6: 121,615,353 (GRCm39) |
G76W |
probably damaging |
Het |
Abca17 |
A |
T |
17: 24,500,219 (GRCm39) |
F1324Y |
possibly damaging |
Het |
Abca8b |
A |
T |
11: 109,862,686 (GRCm39) |
|
probably null |
Het |
Abtb1 |
A |
G |
6: 88,818,788 (GRCm39) |
F7L |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,122,377 (GRCm39) |
T558A |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,412,292 (GRCm39) |
T424S |
possibly damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ankrd31 |
C |
A |
13: 96,968,721 (GRCm39) |
P786Q |
probably benign |
Het |
Arhgap39 |
G |
T |
15: 76,621,424 (GRCm39) |
Y392* |
probably null |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Carmil2 |
G |
T |
8: 106,419,195 (GRCm39) |
W749L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,587,564 (GRCm39) |
Y867H |
unknown |
Het |
Cdh13 |
A |
G |
8: 119,232,437 (GRCm39) |
D47G |
probably benign |
Het |
Chst9 |
T |
A |
18: 15,585,910 (GRCm39) |
T218S |
probably benign |
Het |
Clec2i |
G |
A |
6: 128,870,587 (GRCm39) |
V67I |
probably benign |
Het |
Cox7a2 |
T |
A |
9: 79,667,028 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,519,030 (GRCm39) |
|
probably null |
Het |
Cpz |
A |
G |
5: 35,674,929 (GRCm39) |
C107R |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,909,013 (GRCm39) |
C1209S |
possibly damaging |
Het |
Ddx41 |
T |
C |
13: 55,681,781 (GRCm39) |
M307V |
probably benign |
Het |
Defa24 |
A |
G |
8: 22,224,565 (GRCm39) |
I5V |
probably benign |
Het |
Dgcr8 |
A |
T |
16: 18,076,178 (GRCm39) |
N2K |
probably damaging |
Het |
Ebf2 |
A |
G |
14: 67,476,423 (GRCm39) |
D131G |
probably damaging |
Het |
Fam149b |
C |
T |
14: 20,427,985 (GRCm39) |
R424C |
probably damaging |
Het |
Fbln2 |
G |
A |
6: 91,240,335 (GRCm39) |
V714M |
probably damaging |
Het |
Fgf5 |
T |
C |
5: 98,423,385 (GRCm39) |
Y257H |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,791,605 (GRCm39) |
V224G |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,338,450 (GRCm39) |
I394T |
possibly damaging |
Het |
Glmn |
T |
A |
5: 107,741,746 (GRCm39) |
|
probably null |
Het |
Greb1l |
T |
C |
18: 10,501,025 (GRCm39) |
I385T |
possibly damaging |
Het |
Grhl1 |
C |
A |
12: 24,658,449 (GRCm39) |
Q365K |
probably benign |
Het |
Gsdme |
G |
A |
6: 50,206,306 (GRCm39) |
T179M |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,018,962 (GRCm39) |
T349A |
probably benign |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Il5ra |
G |
A |
6: 106,718,226 (GRCm39) |
T76I |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnh6 |
G |
A |
11: 105,909,978 (GRCm39) |
|
probably null |
Het |
Krt26 |
C |
T |
11: 99,224,415 (GRCm39) |
E368K |
probably benign |
Het |
Lhx9 |
T |
C |
1: 138,766,281 (GRCm39) |
D169G |
possibly damaging |
Het |
Lmod3 |
A |
G |
6: 97,224,234 (GRCm39) |
L529P |
probably damaging |
Het |
Mroh2a |
G |
A |
1: 88,158,390 (GRCm39) |
V146M |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,173,577 (GRCm39) |
T891A |
probably benign |
Het |
Or11g24 |
A |
G |
14: 50,661,984 (GRCm39) |
T3A |
probably benign |
Het |
Or1e1 |
T |
C |
11: 73,244,582 (GRCm39) |
M1T |
probably null |
Het |
Or1j13 |
T |
A |
2: 36,369,996 (GRCm39) |
I49F |
probably damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,208,285 (GRCm39) |
*145R |
probably null |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
C |
12: 83,821,454 (GRCm39) |
G262A |
probably damaging |
Het |
Pdcd1lg2 |
G |
A |
19: 29,423,435 (GRCm39) |
V160I |
probably benign |
Het |
Pde8b |
A |
G |
13: 95,164,105 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
G |
A |
7: 100,004,002 (GRCm39) |
R68* |
probably null |
Het |
Ptprn2 |
A |
T |
12: 117,219,215 (GRCm39) |
N949Y |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,468 (GRCm39) |
D1115Y |
probably damaging |
Het |
Rad54l |
G |
T |
4: 115,954,666 (GRCm39) |
D674E |
probably damaging |
Het |
Ripk4 |
T |
A |
16: 97,545,387 (GRCm39) |
D420V |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,954,067 (GRCm39) |
S1857R |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,311,316 (GRCm39) |
E682G |
probably benign |
Het |
Samd4 |
G |
A |
14: 47,325,329 (GRCm39) |
R515H |
probably damaging |
Het |
Selp |
T |
A |
1: 163,969,079 (GRCm39) |
W560R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,468 (GRCm39) |
L163Q |
probably damaging |
Het |
Shh |
G |
A |
5: 28,666,397 (GRCm39) |
A163V |
probably damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,937 (GRCm39) |
R113G |
possibly damaging |
Het |
Slc5a6 |
C |
A |
5: 31,206,168 (GRCm39) |
|
probably benign |
Het |
Smarcd2 |
A |
G |
11: 106,157,715 (GRCm39) |
|
probably null |
Het |
Sytl3 |
A |
G |
17: 6,995,664 (GRCm39) |
D148G |
probably damaging |
Het |
Tnks |
G |
T |
8: 35,385,615 (GRCm39) |
H297Q |
possibly damaging |
Het |
Trbv21 |
A |
T |
6: 41,179,568 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,806,161 (GRCm39) |
F268L |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,287,541 (GRCm39) |
I209V |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,818,082 (GRCm39) |
N140S |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,919,606 (GRCm39) |
Y226C |
probably damaging |
Het |
Vmn1r129 |
T |
A |
7: 21,094,534 (GRCm39) |
Q228L |
probably damaging |
Het |
Vmn1r209 |
T |
A |
13: 22,990,202 (GRCm39) |
N163Y |
probably benign |
Het |
Vmn1r85 |
A |
G |
7: 12,818,854 (GRCm39) |
S97P |
probably damaging |
Het |
Vmn2r30 |
C |
T |
7: 7,337,350 (GRCm39) |
M95I |
probably benign |
Het |
Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
Wdr70 |
G |
A |
15: 7,916,830 (GRCm39) |
T529I |
possibly damaging |
Het |
Zfp532 |
T |
G |
18: 65,757,005 (GRCm39) |
S313A |
possibly damaging |
Het |
Zhx3 |
A |
T |
2: 160,621,463 (GRCm39) |
N901K |
probably benign |
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 |
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 |
|
Posted On |
2017-06-26 |