Incidental Mutation 'R7584:Abcc10'
ID |
628260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc10
|
Ensembl Gene |
ENSMUSG00000032842 |
Gene Name |
ATP-binding cassette, sub-family C member 10 |
Synonyms |
Mrp7 |
MMRRC Submission |
045667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R7584 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 46626304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
AlphaFold |
Q8R4P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047970
|
SMART Domains |
Protein: ENSMUSP00000038041 Gene: ENSMUSG00000032842
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
99 |
121 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
153 |
N/A |
INTRINSIC |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
286 |
552 |
5.4e-24 |
PFAM |
AAA
|
626 |
809 |
5.76e-8 |
SMART |
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
889 |
1203 |
1.7e-33 |
PFAM |
low complexity region
|
1231 |
1245 |
N/A |
INTRINSIC |
AAA
|
1281 |
1490 |
3.57e-13 |
SMART |
low complexity region
|
1506 |
1517 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000095261
|
SMART Domains |
Protein: ENSMUSP00000092895 Gene: ENSMUSG00000032842
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
48 |
N/A |
INTRINSIC |
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
transmembrane domain
|
93 |
112 |
N/A |
INTRINSIC |
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
245 |
511 |
2.1e-30 |
PFAM |
AAA
|
585 |
768 |
5.76e-8 |
SMART |
low complexity region
|
800 |
811 |
N/A |
INTRINSIC |
transmembrane domain
|
836 |
858 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
896 |
1162 |
6.9e-26 |
PFAM |
low complexity region
|
1190 |
1204 |
N/A |
INTRINSIC |
AAA
|
1240 |
1424 |
1.67e-13 |
SMART |
low complexity region
|
1440 |
1451 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167360
|
SMART Domains |
Protein: ENSMUSP00000131843 Gene: ENSMUSG00000032842
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
99 |
121 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
153 |
N/A |
INTRINSIC |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
286 |
552 |
2.2e-30 |
PFAM |
AAA
|
626 |
809 |
5.76e-8 |
SMART |
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
transmembrane domain
|
877 |
899 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
937 |
1203 |
7.2e-26 |
PFAM |
low complexity region
|
1231 |
1245 |
N/A |
INTRINSIC |
AAA
|
1281 |
1465 |
1.67e-13 |
SMART |
low complexity region
|
1481 |
1492 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168490
|
SMART Domains |
Protein: ENSMUSP00000132760 Gene: ENSMUSG00000032842
Domain | Start | End | E-Value | Type |
AAA
|
75 |
242 |
4.61e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171584
|
SMART Domains |
Protein: ENSMUSP00000132561 Gene: ENSMUSG00000032842
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
70 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
99 |
121 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
153 |
N/A |
INTRINSIC |
transmembrane domain
|
168 |
190 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
286 |
462 |
8.3e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (74/75) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
T |
C |
3: 30,652,356 (GRCm39) |
K246R |
probably benign |
Het |
Adam23 |
T |
A |
1: 63,584,621 (GRCm39) |
V343D |
probably damaging |
Het |
Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,739,777 (GRCm39) |
Q2036* |
probably null |
Het |
Ano10 |
A |
G |
9: 122,104,597 (GRCm39) |
I40T |
probably benign |
Het |
Aoc2 |
T |
A |
11: 101,217,005 (GRCm39) |
C363S |
possibly damaging |
Het |
Aplp2 |
A |
T |
9: 31,069,077 (GRCm39) |
V584E |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,168,263 (GRCm39) |
T749S |
probably benign |
Het |
Atm |
A |
T |
9: 53,424,427 (GRCm39) |
F625I |
probably damaging |
Het |
Atr |
T |
C |
9: 95,824,766 (GRCm39) |
L2387P |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,799,803 (GRCm39) |
G274D |
probably damaging |
Het |
Bcl2a1a |
A |
T |
9: 88,839,345 (GRCm39) |
D81V |
probably damaging |
Het |
Ccdc63 |
T |
G |
5: 122,251,267 (GRCm39) |
D381A |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,610,578 (GRCm39) |
|
probably null |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cyp4b1 |
T |
A |
4: 115,485,884 (GRCm39) |
D351V |
probably damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,056,353 (GRCm39) |
S562G |
probably damaging |
Het |
Dgkb |
T |
A |
12: 38,189,391 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
C |
T |
7: 130,690,481 (GRCm39) |
Q905* |
probably null |
Het |
Dnajc21 |
A |
C |
15: 10,462,381 (GRCm39) |
Y81* |
probably null |
Het |
Dnali1 |
T |
C |
4: 124,959,331 (GRCm39) |
T21A |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,986,064 (GRCm39) |
L851F |
probably damaging |
Het |
Dpt |
T |
C |
1: 164,646,477 (GRCm39) |
Y149H |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,512,627 (GRCm39) |
V983A |
unknown |
Het |
Faf1 |
C |
T |
4: 109,783,154 (GRCm39) |
R549C |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,971,749 (GRCm39) |
N230S |
possibly damaging |
Het |
Gm10803 |
T |
A |
2: 93,394,513 (GRCm39) |
I95N |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,456,798 (GRCm39) |
I721N |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,197 (GRCm39) |
H315R |
probably damaging |
Het |
Igkv10-95 |
T |
A |
6: 68,657,740 (GRCm39) |
S85R |
possibly damaging |
Het |
Katnip |
G |
T |
7: 125,469,838 (GRCm39) |
V1436L |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,472,545 (GRCm39) |
T901A |
probably benign |
Het |
Kremen1 |
C |
T |
11: 5,144,964 (GRCm39) |
V471M |
possibly damaging |
Het |
Lama2 |
C |
A |
10: 26,980,257 (GRCm39) |
D1853Y |
possibly damaging |
Het |
Lrif1 |
A |
G |
3: 106,639,217 (GRCm39) |
T76A |
probably benign |
Het |
Lrrtm2 |
T |
A |
18: 35,345,818 (GRCm39) |
I495F |
possibly damaging |
Het |
Ltbr |
G |
T |
6: 125,284,204 (GRCm39) |
Q413K |
probably benign |
Het |
Ms4a20 |
A |
G |
19: 11,087,725 (GRCm39) |
F69L |
possibly damaging |
Het |
Myrfl |
T |
A |
10: 116,664,902 (GRCm39) |
Y376F |
probably damaging |
Het |
Nup50l |
A |
C |
6: 96,142,373 (GRCm39) |
L224V |
probably benign |
Het |
Nup98 |
G |
T |
7: 101,825,596 (GRCm39) |
N414K |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,109,041 (GRCm39) |
T1383A |
probably damaging |
Het |
Or4c15 |
G |
A |
2: 88,760,149 (GRCm39) |
P170L |
probably damaging |
Het |
Or5j1 |
A |
T |
2: 86,879,478 (GRCm39) |
I34N |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,223,901 (GRCm39) |
I133N |
probably damaging |
Het |
Or7g27 |
C |
A |
9: 19,250,569 (GRCm39) |
T271K |
possibly damaging |
Het |
Or8b1d |
G |
T |
9: 38,558,191 (GRCm39) |
P210T |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,425 (GRCm39) |
S602T |
possibly damaging |
Het |
Sall3 |
A |
G |
18: 81,017,745 (GRCm39) |
F61S |
probably benign |
Het |
Scube1 |
G |
T |
15: 83,606,088 (GRCm39) |
C61* |
probably null |
Het |
Sec31b |
T |
C |
19: 44,519,995 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
C |
19: 44,531,762 (GRCm39) |
D49G |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,060,651 (GRCm39) |
I822T |
possibly damaging |
Het |
Slc19a3 |
C |
T |
1: 83,000,469 (GRCm39) |
V183M |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,653 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
C |
A |
7: 45,361,931 (GRCm39) |
V169L |
probably damaging |
Het |
Synpo |
C |
A |
18: 60,729,349 (GRCm39) |
R951L |
probably damaging |
Het |
Tbc1d9b |
G |
A |
11: 50,061,543 (GRCm39) |
C1017Y |
probably damaging |
Het |
Tmtc4 |
C |
A |
14: 123,215,563 (GRCm39) |
V28F |
probably benign |
Het |
Tprkb |
A |
G |
6: 85,905,809 (GRCm39) |
I165V |
probably benign |
Het |
Ttc23l |
T |
A |
15: 10,533,794 (GRCm39) |
I250F |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,336,543 (GRCm39) |
V89A |
probably benign |
Het |
Ubr3 |
G |
A |
2: 69,821,847 (GRCm39) |
V1370I |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,460,306 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,384,451 (GRCm39) |
Y689C |
probably damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,198,895 (GRCm39) |
Y241N |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,472,683 (GRCm39) |
T13A |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,977,456 (GRCm39) |
F131S |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wfdc16 |
A |
T |
2: 164,480,547 (GRCm39) |
|
probably null |
Het |
Zbtb41 |
T |
A |
1: 139,351,795 (GRCm39) |
Y303N |
probably benign |
Het |
Zbtb5 |
T |
C |
4: 44,993,678 (GRCm39) |
T569A |
probably benign |
Het |
Zfp111 |
A |
G |
7: 23,898,025 (GRCm39) |
S530P |
possibly damaging |
Het |
|
Other mutations in Abcc10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00960:Abcc10
|
APN |
17 |
46,634,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01115:Abcc10
|
APN |
17 |
46,621,352 (GRCm39) |
missense |
probably benign |
|
IGL01380:Abcc10
|
APN |
17 |
46,634,948 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01476:Abcc10
|
APN |
17 |
46,638,863 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01723:Abcc10
|
APN |
17 |
46,624,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01867:Abcc10
|
APN |
17 |
46,635,364 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02065:Abcc10
|
APN |
17 |
46,623,827 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02233:Abcc10
|
APN |
17 |
46,635,085 (GRCm39) |
splice site |
probably null |
|
IGL03394:Abcc10
|
APN |
17 |
46,635,277 (GRCm39) |
missense |
probably damaging |
1.00 |
Decrepit
|
UTSW |
17 |
46,635,317 (GRCm39) |
missense |
probably damaging |
1.00 |
Shrivelled
|
UTSW |
17 |
46,623,345 (GRCm39) |
missense |
probably benign |
|
PIT4514001:Abcc10
|
UTSW |
17 |
46,616,574 (GRCm39) |
missense |
probably benign |
|
R0366:Abcc10
|
UTSW |
17 |
46,635,724 (GRCm39) |
nonsense |
probably null |
|
R0437:Abcc10
|
UTSW |
17 |
46,623,846 (GRCm39) |
splice site |
probably benign |
|
R0437:Abcc10
|
UTSW |
17 |
46,623,845 (GRCm39) |
splice site |
probably null |
|
R0549:Abcc10
|
UTSW |
17 |
46,633,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Abcc10
|
UTSW |
17 |
46,616,882 (GRCm39) |
splice site |
probably null |
|
R1056:Abcc10
|
UTSW |
17 |
46,614,880 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1426:Abcc10
|
UTSW |
17 |
46,635,361 (GRCm39) |
missense |
probably damaging |
0.97 |
R1595:Abcc10
|
UTSW |
17 |
46,633,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R1745:Abcc10
|
UTSW |
17 |
46,623,359 (GRCm39) |
missense |
probably benign |
|
R1856:Abcc10
|
UTSW |
17 |
46,617,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Abcc10
|
UTSW |
17 |
46,633,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Abcc10
|
UTSW |
17 |
46,614,491 (GRCm39) |
missense |
probably benign |
|
R2071:Abcc10
|
UTSW |
17 |
46,614,491 (GRCm39) |
missense |
probably benign |
|
R2255:Abcc10
|
UTSW |
17 |
46,616,561 (GRCm39) |
missense |
probably benign |
0.18 |
R2425:Abcc10
|
UTSW |
17 |
46,621,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R4116:Abcc10
|
UTSW |
17 |
46,634,817 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4510:Abcc10
|
UTSW |
17 |
46,618,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R4511:Abcc10
|
UTSW |
17 |
46,618,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R4645:Abcc10
|
UTSW |
17 |
46,635,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Abcc10
|
UTSW |
17 |
46,634,996 (GRCm39) |
missense |
probably benign |
0.00 |
R4778:Abcc10
|
UTSW |
17 |
46,615,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Abcc10
|
UTSW |
17 |
46,616,577 (GRCm39) |
missense |
probably benign |
0.25 |
R5384:Abcc10
|
UTSW |
17 |
46,615,361 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5509:Abcc10
|
UTSW |
17 |
46,635,185 (GRCm39) |
missense |
probably benign |
0.01 |
R5568:Abcc10
|
UTSW |
17 |
46,614,834 (GRCm39) |
splice site |
probably null |
|
R5798:Abcc10
|
UTSW |
17 |
46,616,929 (GRCm39) |
nonsense |
probably null |
|
R5906:Abcc10
|
UTSW |
17 |
46,627,485 (GRCm39) |
missense |
probably benign |
0.02 |
R5908:Abcc10
|
UTSW |
17 |
46,624,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5942:Abcc10
|
UTSW |
17 |
46,623,333 (GRCm39) |
missense |
probably benign |
0.02 |
R5968:Abcc10
|
UTSW |
17 |
46,621,077 (GRCm39) |
missense |
probably benign |
|
R6038:Abcc10
|
UTSW |
17 |
46,615,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Abcc10
|
UTSW |
17 |
46,615,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R6109:Abcc10
|
UTSW |
17 |
46,621,303 (GRCm39) |
missense |
probably benign |
0.00 |
R6623:Abcc10
|
UTSW |
17 |
46,634,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6851:Abcc10
|
UTSW |
17 |
46,623,345 (GRCm39) |
missense |
probably benign |
|
R6927:Abcc10
|
UTSW |
17 |
46,635,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R7176:Abcc10
|
UTSW |
17 |
46,635,203 (GRCm39) |
missense |
probably benign |
0.02 |
R7314:Abcc10
|
UTSW |
17 |
46,626,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R7463:Abcc10
|
UTSW |
17 |
46,634,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7527:Abcc10
|
UTSW |
17 |
46,623,830 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7862:Abcc10
|
UTSW |
17 |
46,626,458 (GRCm39) |
nonsense |
probably null |
|
R7883:Abcc10
|
UTSW |
17 |
46,618,027 (GRCm39) |
missense |
probably benign |
0.03 |
R7896:Abcc10
|
UTSW |
17 |
46,635,235 (GRCm39) |
missense |
probably benign |
0.08 |
R7897:Abcc10
|
UTSW |
17 |
46,634,999 (GRCm39) |
missense |
probably benign |
0.00 |
R8316:Abcc10
|
UTSW |
17 |
46,638,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R8354:Abcc10
|
UTSW |
17 |
46,635,103 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8414:Abcc10
|
UTSW |
17 |
46,623,273 (GRCm39) |
missense |
probably benign |
0.28 |
R8454:Abcc10
|
UTSW |
17 |
46,635,103 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8977:Abcc10
|
UTSW |
17 |
46,624,593 (GRCm39) |
missense |
probably benign |
0.19 |
R9432:Abcc10
|
UTSW |
17 |
46,634,710 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9473:Abcc10
|
UTSW |
17 |
46,617,609 (GRCm39) |
missense |
probably benign |
0.10 |
R9790:Abcc10
|
UTSW |
17 |
46,633,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R9791:Abcc10
|
UTSW |
17 |
46,633,185 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Abcc10
|
UTSW |
17 |
46,635,046 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Abcc10
|
UTSW |
17 |
46,635,188 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Abcc10
|
UTSW |
17 |
46,624,626 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Abcc10
|
UTSW |
17 |
46,617,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCTGTGAACCTTAGAGGGAAG -3'
(R):5'- AACCAGAAGCTAGCCTCATG -3'
Sequencing Primer
(F):5'- CCTTAGAGGGAAGTGGGGAC -3'
(R):5'- GACTCTCTGCAGGCTGTG -3'
|
Posted On |
2020-02-20 |