Incidental Mutation 'IGL01723:Abcc10'
ID |
105184 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcc10
|
Ensembl Gene |
ENSMUSG00000032842 |
Gene Name |
ATP-binding cassette, sub-family C member 10 |
Synonyms |
Mrp7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL01723
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46624671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 728
(C728S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
AlphaFold |
Q8R4P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047970
AA Change: C769S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000038041 Gene: ENSMUSG00000032842 AA Change: C769S
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 damaging
Transcript: ENSMUST00000095261
AA Change: C728S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092895 Gene: ENSMUSG00000032842 AA Change: C728S
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 damaging
Transcript: ENSMUST00000167360
AA Change: C769S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131843 Gene: ENSMUSG00000032842 AA Change: C769S
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 |
possibly damaging
Transcript: ENSMUST00000168490
AA Change: C218S
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132760 Gene: ENSMUSG00000032842 AA Change: C218S
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 |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
Epx |
C |
T |
11: 87,760,228 (GRCm39) |
R462H |
probably damaging |
Het |
Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
Hcn1 |
A |
C |
13: 118,112,591 (GRCm39) |
S852R |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
Lrrn4 |
T |
C |
2: 132,711,981 (GRCm39) |
E614G |
possibly damaging |
Het |
Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
Nxpe4 |
A |
G |
9: 48,309,898 (GRCm39) |
D387G |
probably benign |
Het |
Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,380,915 (GRCm39) |
H326L |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
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 |
|
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 |
R7584:Abcc10
|
UTSW |
17 |
46,626,304 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2014-01-21 |