Incidental Mutation 'R0366:Abcc10'
ID |
36445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc10
|
Ensembl Gene |
ENSMUSG00000032842 |
Gene Name |
ATP-binding cassette, sub-family C member 10 |
Synonyms |
Mrp7 |
MMRRC Submission |
038572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R0366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 46635724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 93
(S93*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
AlphaFold |
Q8R4P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047970
AA Change: S93*
|
SMART Domains |
Protein: ENSMUSP00000038041 Gene: ENSMUSG00000032842 AA Change: S93*
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
AA Change: S52*
|
SMART Domains |
Protein: ENSMUSP00000092895 Gene: ENSMUSG00000032842 AA Change: S52*
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 |
probably null
Transcript: ENSMUST00000167360
AA Change: S93*
|
SMART Domains |
Protein: ENSMUSP00000131843 Gene: ENSMUSG00000032842 AA Change: S93*
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 |
probably null
Transcript: ENSMUST00000171584
AA Change: S93*
|
SMART Domains |
Protein: ENSMUSP00000132561 Gene: ENSMUSG00000032842 AA Change: S93*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
C |
9: 121,738,426 (GRCm39) |
L267P |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,099,001 (GRCm39) |
L169* |
probably null |
Het |
Ankrd12 |
T |
A |
17: 66,291,501 (GRCm39) |
S1311C |
possibly damaging |
Het |
Arid2 |
T |
A |
15: 96,259,601 (GRCm39) |
|
probably benign |
Het |
Atp9b |
A |
T |
18: 80,805,317 (GRCm39) |
V747E |
probably damaging |
Het |
Best1 |
T |
C |
19: 9,969,417 (GRCm39) |
|
probably null |
Het |
Brwd1 |
C |
A |
16: 95,839,164 (GRCm39) |
E836* |
probably null |
Het |
Cachd1 |
A |
G |
4: 100,851,934 (GRCm39) |
S1177G |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,291,884 (GRCm39) |
E1766K |
probably benign |
Het |
Cckar |
A |
G |
5: 53,857,507 (GRCm39) |
I301T |
probably benign |
Het |
Cdc27 |
T |
G |
11: 104,396,474 (GRCm39) |
T816P |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,102,537 (GRCm39) |
Q708H |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,830,321 (GRCm39) |
D1301E |
probably benign |
Het |
D430041D05Rik |
G |
A |
2: 104,085,685 (GRCm39) |
H955Y |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
Efcab12 |
A |
G |
6: 115,800,209 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
G |
5: 110,849,537 (GRCm39) |
V1428A |
unknown |
Het |
Erbb3 |
T |
C |
10: 128,408,439 (GRCm39) |
E825G |
possibly damaging |
Het |
Evl |
A |
T |
12: 108,652,307 (GRCm39) |
|
probably null |
Het |
Fuca2 |
G |
A |
10: 13,381,507 (GRCm39) |
R140H |
probably benign |
Het |
Gm5581 |
T |
C |
6: 131,143,410 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
C |
17: 22,259,498 (GRCm39) |
|
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,617,151 (GRCm39) |
I119S |
probably damaging |
Het |
Gzmc |
A |
T |
14: 56,470,193 (GRCm39) |
Y101* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,314,218 (GRCm39) |
A3588S |
possibly damaging |
Het |
Ikbkb |
A |
G |
8: 23,185,276 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
T |
7: 127,748,261 (GRCm39) |
|
probably benign |
Het |
Kif24 |
C |
A |
4: 41,428,717 (GRCm39) |
S81I |
possibly damaging |
Het |
Lct |
G |
A |
1: 128,214,199 (GRCm39) |
P1858S |
probably benign |
Het |
Map2k1 |
C |
A |
9: 64,100,984 (GRCm39) |
|
probably null |
Het |
Mdga1 |
A |
G |
17: 30,076,682 (GRCm39) |
V30A |
possibly damaging |
Het |
Meiosin |
T |
A |
7: 18,840,964 (GRCm39) |
I57F |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,124 (GRCm39) |
P1441L |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,963,739 (GRCm39) |
F596Y |
possibly damaging |
Het |
Notch4 |
A |
T |
17: 34,800,473 (GRCm39) |
|
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,598 (GRCm39) |
S263P |
probably benign |
Het |
Or4c12 |
A |
C |
2: 89,774,162 (GRCm39) |
V99G |
possibly damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,840 (GRCm39) |
M256T |
possibly damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,450 (GRCm39) |
C162S |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,369 (GRCm39) |
V9A |
possibly damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,736 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,808,460 (GRCm39) |
Y505C |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,554,928 (GRCm39) |
F58L |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,910,204 (GRCm39) |
I72F |
probably damaging |
Het |
Ppp5c |
A |
T |
7: 16,756,508 (GRCm39) |
Y63* |
probably null |
Het |
Prdm4 |
T |
C |
10: 85,743,868 (GRCm39) |
D129G |
probably damaging |
Het |
Prkcq |
C |
A |
2: 11,251,649 (GRCm39) |
|
probably benign |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,242 (GRCm39) |
V90D |
probably damaging |
Het |
Ripk3 |
T |
C |
14: 56,024,292 (GRCm39) |
T193A |
probably damaging |
Het |
Rnf167 |
C |
T |
11: 70,540,143 (GRCm39) |
R88* |
probably null |
Het |
Robo1 |
A |
G |
16: 72,539,133 (GRCm39) |
T59A |
possibly damaging |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,582,620 (GRCm39) |
|
probably benign |
Het |
Sec31a |
A |
T |
5: 100,530,625 (GRCm39) |
L677H |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,457,741 (GRCm39) |
T29A |
probably benign |
Het |
Shoc1 |
A |
C |
4: 59,099,410 (GRCm39) |
M94R |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,272,854 (GRCm39) |
Y942C |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,599,470 (GRCm39) |
Y1027F |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,882,764 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,208,227 (GRCm39) |
Q249R |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,828,736 (GRCm39) |
D138V |
possibly damaging |
Het |
Ttll10 |
G |
A |
4: 156,119,612 (GRCm39) |
R596W |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,742,850 (GRCm39) |
N695K |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAATGCCACAGCAGAGTTAGTACC -3'
(R):5'- GAAAGGGAATTTACCTCCTCCCGC -3'
Sequencing Primer
(F):5'- CAGAGTTAGTACCAGGGCCG -3'
(R):5'- TCCTCCCGCTGGTTGAAG -3'
|
Posted On |
2013-05-09 |