Incidental Mutation 'R4297:Abcc12'
| ID |
323392 |
| 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 |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 87258154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000152438]
[ENSMUST00000156610]
|
| AlphaFold |
Q80WJ6 |
| Predicted Effect |
probably null
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 null
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 null
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 |
silent
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
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 |
|
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'- GAACCTGGCAGCTTTAATGG -3'
(R):5'- CAAGGACCTTAGCAGTGGAG -3'
Sequencing Primer
(F):5'- CCATTTAAAGGGCTGTATTATCAGAC -3'
(R):5'- CCTTAGCAGTGGAGGGGAGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation