Incidental Mutation 'R3176:Abcc12'
| ID |
475999 |
| 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 |
040614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3176 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87233495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1269
(R1269H)
|
| 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: R1269H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: R1269H
| 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: R1269H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: R1269H
| 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 |
|
| Meta Mutation Damage Score |
0.8122 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (28/28) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,867,528 (GRCm39) |
E164G |
probably null |
Het |
| Als2 |
A |
T |
1: 59,209,167 (GRCm39) |
V1464E |
possibly damaging |
Het |
| Atox1 |
A |
G |
11: 55,341,379 (GRCm39) |
L52P |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,813,216 (GRCm39) |
K282E |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 47,008,934 (GRCm39) |
|
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,466,010 (GRCm39) |
|
probably benign |
Het |
| Col16a1 |
A |
G |
4: 129,951,792 (GRCm39) |
K72E |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,429 (GRCm39) |
H36R |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,483,047 (GRCm39) |
N415D |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
G |
T |
9: 64,796,275 (GRCm39) |
R767L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,418,436 (GRCm39) |
F25L |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,587,805 (GRCm39) |
F584S |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,689,801 (GRCm39) |
T715A |
probably benign |
Het |
| Dtx3l |
A |
G |
16: 35,752,543 (GRCm39) |
S688P |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,108,355 (GRCm39) |
I229F |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,780,187 (GRCm39) |
T164A |
possibly damaging |
Het |
| Fam133b |
A |
T |
5: 3,608,522 (GRCm39) |
N84I |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,684,935 (GRCm39) |
Y346* |
probably null |
Het |
| Fcgbp |
C |
A |
7: 27,791,086 (GRCm39) |
H782Q |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,644 (GRCm39) |
|
probably benign |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,537,377 (GRCm39) |
N1119S |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,816,905 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,063 (GRCm39) |
I207V |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lhfpl5 |
T |
C |
17: 28,798,920 (GRCm39) |
I143T |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,955,269 (GRCm39) |
K431E |
possibly damaging |
Het |
| Mag |
C |
T |
7: 30,601,073 (GRCm39) |
|
probably null |
Het |
| Maml3 |
A |
T |
3: 51,764,351 (GRCm39) |
N204K |
possibly damaging |
Het |
| Mmut |
A |
G |
17: 41,269,763 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
T |
C |
6: 81,941,047 (GRCm39) |
S115G |
probably damaging |
Het |
| Mthfd1l |
G |
C |
10: 4,098,025 (GRCm39) |
G954A |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,783,001 (GRCm39) |
I172V |
probably benign |
Het |
| Naca |
T |
C |
10: 127,876,530 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,465,955 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,348,914 (GRCm39) |
N638D |
possibly damaging |
Het |
| Or52r1c |
C |
A |
7: 102,734,957 (GRCm39) |
D72E |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,939 (GRCm39) |
C141S |
probably damaging |
Het |
| Or9s27 |
A |
G |
1: 92,516,535 (GRCm39) |
N161S |
probably benign |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,581,058 (GRCm39) |
S57F |
probably damaging |
Het |
| Prcd |
A |
G |
11: 116,550,637 (GRCm39) |
E103G |
possibly damaging |
Het |
| Prkx |
A |
T |
X: 76,814,881 (GRCm39) |
F260I |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,631,142 (GRCm39) |
|
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,590 (GRCm39) |
M1003K |
probably benign |
Het |
| Scap |
A |
T |
9: 110,203,093 (GRCm39) |
M256L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,588,960 (GRCm39) |
R722H |
possibly damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,070 (GRCm39) |
V148A |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spata7 |
A |
G |
12: 98,603,857 (GRCm39) |
N75D |
possibly damaging |
Het |
| Tmem120b |
T |
A |
5: 123,252,167 (GRCm39) |
I146N |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,318 (GRCm39) |
F99L |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,926,267 (GRCm39) |
C348* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,149,166 (GRCm39) |
D1777E |
probably benign |
Het |
| Unc79 |
C |
A |
12: 103,079,476 (GRCm39) |
D1880E |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,585 (GRCm39) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
|
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 |
|
| Posted On |
2017-05-11 |
Incidental Mutation