Incidental Mutation 'R7834:Abcc12'
| ID |
605860 |
| 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 |
045888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87258179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 779
(Y779F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000152438]
[ENSMUST00000156610]
|
| AlphaFold |
Q80WJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080115
AA Change: Y779F
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: Y779F
| 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 |
possibly damaging
Transcript: ENSMUST00000131423
AA Change: Y779F
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: Y779F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: Y64F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,115,068 (GRCm39) |
I626N |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,180,535 (GRCm39) |
C521S |
probably damaging |
Het |
| Adcy5 |
C |
A |
16: 34,977,570 (GRCm39) |
H368N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,390 (GRCm39) |
I2411N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,294,347 (GRCm39) |
F339S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,746,005 (GRCm39) |
R153W |
probably damaging |
Het |
| Bmp6 |
T |
C |
13: 38,653,643 (GRCm39) |
F237L |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,587,542 (GRCm39) |
S1628P |
|
Het |
| Ccdc141 |
T |
C |
2: 76,889,889 (GRCm39) |
R468G |
possibly damaging |
Het |
| Cdc40 |
A |
T |
10: 40,758,945 (GRCm39) |
S43T |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,886,542 (GRCm39) |
M48T |
probably benign |
Het |
| Clec4g |
A |
T |
8: 3,766,500 (GRCm39) |
M267K |
probably damaging |
Het |
| Col6a1 |
G |
T |
10: 76,545,762 (GRCm39) |
S903R |
unknown |
Het |
| Creg2 |
A |
G |
1: 39,689,802 (GRCm39) |
F103L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,836,630 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,774 (GRCm39) |
A756V |
probably benign |
Het |
| Diaph1 |
G |
A |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,054,044 (GRCm39) |
G2550D |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,233,186 (GRCm39) |
R3396I |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,118,953 (GRCm39) |
T2171A |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,583,925 (GRCm39) |
T113M |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,611,984 (GRCm39) |
S219R |
probably damaging |
Het |
| Gbp6 |
T |
A |
5: 105,421,131 (GRCm39) |
E558V |
probably benign |
Het |
| Gnas |
A |
T |
2: 174,140,783 (GRCm39) |
K377* |
probably null |
Het |
| Hars2 |
T |
C |
18: 36,922,634 (GRCm39) |
I389T |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,091 (GRCm39) |
I123V |
possibly damaging |
Het |
| Igkv6-14 |
A |
T |
6: 70,411,992 (GRCm39) |
N97K |
possibly damaging |
Het |
| Isg20 |
T |
C |
7: 78,569,867 (GRCm39) |
L168P |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,703 (GRCm39) |
D206N |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,428,661 (GRCm39) |
I296V |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,127,119 (GRCm39) |
R351H |
probably damaging |
Het |
| Klra5 |
A |
T |
6: 129,876,253 (GRCm39) |
|
probably null |
Het |
| Krt9 |
T |
C |
11: 100,083,492 (GRCm39) |
T180A |
probably benign |
Het |
| Lhx8 |
T |
C |
3: 154,017,174 (GRCm39) |
S323G |
probably null |
Het |
| Lpcat2 |
T |
A |
8: 93,644,729 (GRCm39) |
L506H |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,647 (GRCm39) |
E1447G |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,345,576 (GRCm39) |
I779F |
probably damaging |
Het |
| Mcmdc2 |
G |
A |
1: 9,982,399 (GRCm39) |
|
probably null |
Het |
| Mrps15 |
G |
A |
4: 125,949,182 (GRCm39) |
E217K |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,412,807 (GRCm39) |
G1918R |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,013,241 (GRCm39) |
I336T |
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,676,652 (GRCm39) |
V878A |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,706,162 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
T |
A |
14: 32,062,666 (GRCm39) |
I584N |
probably benign |
Het |
| Pdzrn3 |
G |
A |
6: 101,128,156 (GRCm39) |
R837C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,382,273 (GRCm39) |
M2626T |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,591 (GRCm39) |
S399P |
probably benign |
Het |
| Prelp |
T |
C |
1: 133,842,510 (GRCm39) |
T212A |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,610,014 (GRCm39) |
S4T |
probably damaging |
Het |
| Ptprb |
A |
C |
10: 116,175,329 (GRCm39) |
E821A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,419 (GRCm39) |
|
probably benign |
Het |
| Reln |
C |
T |
5: 22,244,633 (GRCm39) |
V782M |
possibly damaging |
Het |
| Rpl3l |
T |
C |
17: 24,952,437 (GRCm39) |
V52A |
possibly damaging |
Het |
| Rrp1b |
T |
C |
17: 32,270,698 (GRCm39) |
V219A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,350,806 (GRCm39) |
I468F |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,900,881 (GRCm39) |
M129K |
unknown |
Het |
| Sall1 |
C |
A |
8: 89,760,002 (GRCm39) |
S34I |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,866,919 (GRCm39) |
G227D |
probably damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,107,470 (GRCm39) |
V295L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,278 (GRCm39) |
Q525L |
possibly damaging |
Het |
| Speg |
C |
T |
1: 75,361,571 (GRCm39) |
T195M |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,014,021 (GRCm39) |
T3071S |
probably benign |
Het |
| Syngr1 |
G |
T |
15: 79,995,818 (GRCm39) |
W119L |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,681 (GRCm39) |
L1951P |
probably damaging |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,465,637 (GRCm39) |
W2735* |
probably null |
Het |
| Usp17lb |
T |
A |
7: 104,490,718 (GRCm39) |
T70S |
probably damaging |
Het |
| Vmn2r6 |
T |
G |
3: 64,445,443 (GRCm39) |
N761H |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,835,143 (GRCm39) |
I2741K |
|
Het |
| Wdr38 |
A |
T |
2: 38,890,196 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,406 (GRCm39) |
K295R |
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 |
|
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 |
|
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'- ACCTGGCAGCTTTAATGGAG -3'
(R):5'- CAAGGACCTTAGCAGTGGAG -3'
Sequencing Primer
(F):5'- AAGGGCTGTATTATCAGACTTTAGG -3'
(R):5'- CCTTAGCAGTGGAGGGGAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation