Incidental Mutation 'IGL02065:Abcc10'
ID |
185602 |
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 # |
IGL02065
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 46623827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 770
(E770K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
AlphaFold |
Q8R4P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047970
AA Change: E811K
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038041 Gene: ENSMUSG00000032842 AA Change: E811K
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 |
possibly damaging
Transcript: ENSMUST00000095261
AA Change: E770K
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092895 Gene: ENSMUSG00000032842 AA Change: E770K
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 benign
Transcript: ENSMUST00000167360
AA Change: E811K
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000131843 Gene: ENSMUSG00000032842 AA Change: E811K
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 benign
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
Cep126 |
A |
G |
9: 8,099,925 (GRCm39) |
S870P |
probably benign |
Het |
Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
Fchsd2 |
T |
G |
7: 100,826,429 (GRCm39) |
|
probably null |
Het |
Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
Mical1 |
A |
T |
10: 41,360,407 (GRCm39) |
K615N |
possibly damaging |
Het |
Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,987,314 (GRCm39) |
V837I |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
Whrn |
A |
T |
4: 63,336,822 (GRCm39) |
I580N |
possibly damaging |
Het |
Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
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 |
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 |
2014-05-07 |