Incidental Mutation 'R8939:Abcc12'
| ID |
680854 |
| 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 |
068712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87231197-87307317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87243947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1069
(Y1069H)
|
| 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: Y1069H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: Y1069H
| 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: Y1069H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: Y1069H
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: Y354H
| 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: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,225,162 (GRCm39) |
V12A |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,624,977 (GRCm39) |
T473A |
probably damaging |
Het |
| Acsm1 |
A |
T |
7: 119,239,868 (GRCm39) |
T271S |
probably benign |
Het |
| Adh6b |
T |
C |
3: 138,055,397 (GRCm39) |
I49T |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,263,231 (GRCm39) |
T84S |
probably benign |
Het |
| Angptl7 |
G |
A |
4: 148,580,956 (GRCm39) |
R280* |
probably null |
Het |
| Bhlhe23 |
T |
A |
2: 180,418,099 (GRCm39) |
K146N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,014,544 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
C |
G |
1: 172,372,834 (GRCm39) |
R510G |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,642,868 (GRCm39) |
Y202C |
probably damaging |
Het |
| Chrna6 |
T |
A |
8: 27,896,870 (GRCm39) |
T336S |
probably benign |
Het |
| Clpx |
A |
G |
9: 65,231,519 (GRCm39) |
K535E |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,376,512 (GRCm39) |
M1581V |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,758,823 (GRCm39) |
I246K |
probably benign |
Het |
| F7 |
G |
T |
8: 13,078,724 (GRCm39) |
G52C |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,177,223 (GRCm39) |
Q701R |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,456 (GRCm39) |
M605L |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,883 (GRCm39) |
F293S |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,618,170 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsto2 |
T |
C |
19: 47,873,203 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,299 (GRCm39) |
W231R |
probably damaging |
Het |
| Igflr1 |
CAGAG |
CAG |
7: 30,266,888 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
C |
T |
12: 115,876,113 (GRCm39) |
G68R |
probably damaging |
Het |
| Il10ra |
A |
G |
9: 45,177,802 (GRCm39) |
V69A |
unknown |
Het |
| Klhdc1 |
C |
T |
12: 69,300,537 (GRCm39) |
A159V |
probably damaging |
Het |
| Krtap4-6 |
A |
G |
11: 99,556,229 (GRCm39) |
I166T |
unknown |
Het |
| Lce1h |
A |
T |
3: 92,670,976 (GRCm39) |
C59S |
unknown |
Het |
| Magi3 |
T |
C |
3: 103,996,748 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,892,837 (GRCm39) |
S806* |
probably null |
Het |
| Map3k6 |
T |
A |
4: 132,979,954 (GRCm39) |
|
probably benign |
Het |
| Mgam |
G |
A |
6: 40,740,137 (GRCm39) |
|
probably null |
Het |
| Mtx1 |
A |
G |
3: 89,120,033 (GRCm39) |
V207A |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,347,091 (GRCm39) |
N356Y |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,524,679 (GRCm39) |
F810S |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,166,761 (GRCm39) |
L774P |
probably damaging |
Het |
| Nr1i2 |
C |
T |
16: 38,086,382 (GRCm39) |
V28I |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,488,589 (GRCm39) |
K297R |
probably damaging |
Het |
| Or5b122 |
A |
C |
19: 13,562,860 (GRCm39) |
N64T |
probably damaging |
Het |
| Pcmtd2 |
T |
C |
2: 181,496,863 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,730,347 (GRCm39) |
L102P |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,571,319 (GRCm39) |
E114G |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,926 (GRCm39) |
V70A |
probably damaging |
Het |
| Psd2 |
G |
A |
18: 36,121,292 (GRCm39) |
V421M |
probably damaging |
Het |
| Qng1 |
C |
T |
13: 58,532,875 (GRCm39) |
A32T |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,160,025 (GRCm39) |
E343K |
possibly damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,160,093 (GRCm39) |
A136V |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,995,337 (GRCm39) |
E231D |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,552,231 (GRCm39) |
E690G |
probably damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,776 (GRCm39) |
E88G |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,411,137 (GRCm39) |
|
probably null |
Het |
| Sgcb |
A |
T |
5: 73,801,661 (GRCm39) |
I68N |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,364,433 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
C |
T |
13: 56,611,519 (GRCm39) |
P209S |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,311,895 (GRCm39) |
H614Q |
possibly damaging |
Het |
| Slurp1 |
G |
A |
15: 74,598,763 (GRCm39) |
S76L |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,202,969 (GRCm39) |
E1886G |
possibly damaging |
Het |
| Sqor |
C |
T |
2: 122,649,549 (GRCm39) |
P151S |
possibly damaging |
Het |
| Sstr4 |
C |
A |
2: 148,238,228 (GRCm39) |
L280M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,847 (GRCm39) |
Y117C |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,968,574 (GRCm39) |
|
probably null |
Het |
| Stim2 |
G |
T |
5: 54,262,673 (GRCm39) |
R305L |
possibly damaging |
Het |
| Syt14 |
G |
A |
1: 192,612,896 (GRCm39) |
R635C |
probably damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,381,483 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,575,695 (GRCm39) |
N23320S |
possibly damaging |
Het |
| Ubqln4 |
A |
G |
3: 88,473,023 (GRCm39) |
T493A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,158 (GRCm39) |
L501P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,068,700 (GRCm39) |
I449V |
probably damaging |
Het |
| Vmn2r51 |
C |
A |
7: 9,833,953 (GRCm39) |
D362Y |
possibly damaging |
Het |
| Xirp2 |
A |
C |
2: 67,346,488 (GRCm39) |
T2910P |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,315 (GRCm39) |
S28P |
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 |
|
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 |
|
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'- AGAGACTTGTCTGGTACCCAC -3'
(R):5'- GGTTTAAGACACTCAACGACG -3'
Sequencing Primer
(F):5'- TCTGGTACCCACTGCACAATGATG -3'
(R):5'- GGTTTAAGACACTCAACGACGAAAAC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation