Incidental Mutation 'IGL01380:Abcc10'
| ID |
78825 |
| 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: 0.096)
|
| Stock # |
IGL01380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46634948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 352
(V352L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
| AlphaFold |
Q8R4P9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047970
AA Change: V352L
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: V352L
| 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: V311L
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: V311L
| 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 |
noncoding transcript
Transcript: ENSMUST00000165733
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167360
AA Change: V352L
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: V352L
| 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 |
noncoding transcript
Transcript: ENSMUST00000170168
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171584
AA Change: V352L
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: V352L
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,840,053 (GRCm39) |
T42A |
probably benign |
Het |
| Ankrd44 |
A |
T |
1: 54,766,724 (GRCm39) |
M488K |
probably benign |
Het |
| Ano8 |
A |
G |
8: 71,933,453 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
T |
A |
7: 126,047,942 (GRCm39) |
M623L |
possibly damaging |
Het |
| Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
| Btla |
A |
C |
16: 45,070,716 (GRCm39) |
D225A |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,659 (GRCm39) |
Q1218* |
probably null |
Het |
| Cacna1a |
A |
G |
8: 85,285,746 (GRCm39) |
Y750C |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,187,853 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,328,753 (GRCm39) |
I724N |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,556,772 (GRCm39) |
F937L |
probably benign |
Het |
| Clybl |
G |
T |
14: 122,616,761 (GRCm39) |
A259S |
probably benign |
Het |
| Cyp4f39 |
T |
G |
17: 32,700,832 (GRCm39) |
I167S |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,411,418 (GRCm39) |
D1566V |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,525,787 (GRCm39) |
A3867T |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,001,847 (GRCm39) |
L189Q |
probably benign |
Het |
| Dusp10 |
T |
C |
1: 183,801,211 (GRCm39) |
I326T |
possibly damaging |
Het |
| Eaf1 |
T |
A |
14: 31,219,767 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,163,585 (GRCm39) |
|
probably benign |
Het |
| Fam169a |
C |
T |
13: 97,228,459 (GRCm39) |
T44M |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,570,782 (GRCm39) |
|
probably benign |
Het |
| Fam25a |
C |
T |
14: 34,075,655 (GRCm39) |
A46T |
probably null |
Het |
| Gckr |
A |
G |
5: 31,456,977 (GRCm39) |
|
probably benign |
Het |
| Gfra2 |
G |
T |
14: 71,204,586 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,863,703 (GRCm38) |
|
probably null |
Het |
| H2-Eb2 |
G |
T |
17: 34,554,783 (GRCm39) |
L228F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,261 (GRCm39) |
N1736S |
probably benign |
Het |
| Izumo1 |
T |
G |
7: 45,276,519 (GRCm39) |
S361A |
probably benign |
Het |
| Klri1 |
T |
C |
6: 129,675,761 (GRCm39) |
I170V |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,555,326 (GRCm39) |
A193V |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,567,544 (GRCm39) |
M105K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,030,158 (GRCm39) |
D1080G |
probably benign |
Het |
| Lrrc74a |
A |
T |
12: 86,808,496 (GRCm39) |
M425L |
possibly damaging |
Het |
| Mfsd13a |
G |
T |
19: 46,356,347 (GRCm39) |
D151Y |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,961,787 (GRCm39) |
E640K |
probably damaging |
Het |
| Napsa |
T |
C |
7: 44,236,098 (GRCm39) |
V379A |
probably damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,017 (GRCm39) |
M277K |
probably damaging |
Het |
| Or55b4 |
C |
T |
7: 102,133,592 (GRCm39) |
C245Y |
probably damaging |
Het |
| Or7c19 |
C |
A |
8: 85,957,775 (GRCm39) |
S217Y |
probably damaging |
Het |
| Or7c19 |
A |
T |
8: 85,957,958 (GRCm39) |
Y278F |
possibly damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,237 (GRCm39) |
V567A |
probably damaging |
Het |
| Oxsr1 |
A |
T |
9: 119,089,167 (GRCm39) |
|
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,860,362 (GRCm39) |
V167E |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,498 (GRCm39) |
H486R |
probably benign |
Het |
| Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,665,548 (GRCm39) |
D616G |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,027,108 (GRCm39) |
Y1249C |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,030,797 (GRCm39) |
H534R |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,485,777 (GRCm39) |
Y136H |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,590,369 (GRCm39) |
M1333V |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,933,161 (GRCm39) |
D54G |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,195,443 (GRCm39) |
V250E |
possibly damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Suv39h2 |
T |
A |
2: 3,465,296 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,968,005 (GRCm39) |
H63L |
probably damaging |
Het |
| Tex2 |
G |
A |
11: 106,435,141 (GRCm39) |
Q264* |
probably null |
Het |
| Thnsl2 |
A |
C |
6: 71,115,740 (GRCm39) |
S156A |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,890,566 (GRCm39) |
L758P |
probably benign |
Het |
| Zfyve1 |
G |
A |
12: 83,599,281 (GRCm39) |
R144C |
probably damaging |
Het |
| Zpld1 |
A |
G |
16: 55,072,133 (GRCm39) |
V42A |
probably 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 |
|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation