Incidental Mutation 'R7828:Abcc12'
| ID |
602443 |
| 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 |
045882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7828 (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 C
at 87254904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 869
(T869A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080115]
[ENSMUST00000129898]
[ENSMUST00000131423]
[ENSMUST00000131806]
[ENSMUST00000156610]
|
| AlphaFold |
Q80WJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080115
AA Change: T869A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: T869A
| 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 benign
Transcript: ENSMUST00000131423
AA Change: T869A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: T869A
| 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: T154A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,147,943 (GRCm39) |
P615Q |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,168,753 (GRCm39) |
Q410K |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,313,214 (GRCm39) |
E335G |
possibly damaging |
Het |
| AU041133 |
C |
T |
10: 81,987,054 (GRCm39) |
H236Y |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,754,156 (GRCm39) |
Y351F |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,501 (GRCm39) |
S610P |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,737,159 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
T |
5: 107,120,816 (GRCm39) |
Q146L |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,044,642 (GRCm39) |
H328R |
possibly damaging |
Het |
| Cdsn |
T |
C |
17: 35,865,878 (GRCm39) |
S136P |
unknown |
Het |
| Ces3b |
T |
A |
8: 105,813,228 (GRCm39) |
L203Q |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,676,489 (GRCm39) |
V840A |
probably damaging |
Het |
| Ctse |
T |
C |
1: 131,590,491 (GRCm39) |
L71P |
probably damaging |
Het |
| Ears2 |
G |
T |
7: 121,647,563 (GRCm39) |
S240R |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,687,386 (GRCm39) |
I756V |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,135,127 (GRCm39) |
Y587H |
probably benign |
Het |
| Fcamr |
G |
T |
1: 130,739,443 (GRCm39) |
A248S |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,171 (GRCm39) |
W51* |
probably null |
Het |
| Hfm1 |
A |
T |
5: 107,029,657 (GRCm39) |
|
probably null |
Het |
| Hhip |
T |
C |
8: 80,724,837 (GRCm39) |
I312V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,295,887 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Iars1 |
T |
A |
13: 49,878,748 (GRCm39) |
M948K |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,758,187 (GRCm39) |
L521S |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,892 (GRCm39) |
D2062G |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,876,800 (GRCm39) |
R784S |
probably benign |
Het |
| Maea |
T |
A |
5: 33,517,722 (GRCm39) |
D87E |
probably benign |
Het |
| Man2a2 |
A |
G |
7: 80,016,674 (GRCm39) |
I380T |
probably damaging |
Het |
| Mprip |
G |
T |
11: 59,627,915 (GRCm39) |
G253W |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,366,979 (GRCm39) |
I342F |
probably damaging |
Het |
| Oosp1 |
C |
A |
19: 11,668,369 (GRCm39) |
V5L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,169 (GRCm39) |
M137K |
probably damaging |
Het |
| Or5b113 |
G |
A |
19: 13,342,510 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c74 |
A |
G |
10: 129,869,756 (GRCm39) |
D87G |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,216 (GRCm39) |
S311P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,752,848 (GRCm39) |
M95T |
probably damaging |
Het |
| Pcdh17 |
C |
G |
14: 84,770,425 (GRCm39) |
R968G |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,476,915 (GRCm39) |
S684A |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,947,200 (GRCm39) |
I175R |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,535 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 33,001,735 (GRCm39) |
|
probably benign |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Sbspon |
T |
G |
1: 15,930,543 (GRCm39) |
K148Q |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,444,078 (GRCm39) |
|
probably null |
Het |
| Sh2d5 |
C |
A |
4: 137,984,108 (GRCm39) |
P85T |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,008,602 (GRCm39) |
V204D |
possibly damaging |
Het |
| Slc2a8 |
G |
A |
2: 32,870,080 (GRCm39) |
R154* |
probably null |
Het |
| Slc36a3 |
C |
T |
11: 55,042,024 (GRCm39) |
G42S |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,296 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,768 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,852,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,805,381 (GRCm39) |
S153P |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,221,615 (GRCm39) |
L228Q |
probably benign |
Het |
| Upk3b |
G |
A |
5: 136,068,993 (GRCm39) |
G121S |
possibly damaging |
Het |
| Usp1 |
T |
A |
4: 98,820,544 (GRCm39) |
S456R |
probably damaging |
Het |
| Usp28 |
A |
T |
9: 48,915,202 (GRCm39) |
N126Y |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,710,878 (GRCm39) |
V2411M |
possibly damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,769 (GRCm39) |
E165K |
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 |
|
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'- CCAGAGTCCAACACAATGTTTGAC -3'
(R):5'- TAGCAGCCTTCTCTTCAGAAAG -3'
Sequencing Primer
(F):5'- CACAGTATAGGGGCCTGCTTAG -3'
(R):5'- GCAGCCTTCTCTTCAGAAAGATGATC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation