Incidental Mutation 'R7862:Abcc10'
ID |
607616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc10
|
Ensembl Gene |
ENSMUSG00000032842 |
Gene Name |
ATP-binding cassette, sub-family C member 10 |
Synonyms |
Mrp7 |
MMRRC Submission |
045915-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R7862 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 46626458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 661
(S661*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
AlphaFold |
Q8R4P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047970
AA Change: S661*
|
SMART Domains |
Protein: ENSMUSP00000038041 Gene: ENSMUSG00000032842 AA Change: S661*
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: S620*
|
SMART Domains |
Protein: ENSMUSP00000092895 Gene: ENSMUSG00000032842 AA Change: S620*
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
AA Change: S661*
|
SMART Domains |
Protein: ENSMUSP00000131843 Gene: ENSMUSG00000032842 AA Change: S661*
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
AA Change: S110*
|
SMART Domains |
Protein: ENSMUSP00000132760 Gene: ENSMUSG00000032842 AA Change: S110*
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 |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
C |
3: 145,649,624 (GRCm39) |
*181S |
probably null |
Het |
Abtb2 |
C |
T |
2: 103,532,626 (GRCm39) |
R475W |
probably damaging |
Het |
Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,684,983 (GRCm39) |
M144T |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,451,734 (GRCm39) |
D1372G |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,807,836 (GRCm39) |
|
probably null |
Het |
Cst12 |
T |
C |
2: 148,631,495 (GRCm39) |
V72A |
probably damaging |
Het |
D1Pas1 |
G |
A |
1: 186,700,349 (GRCm39) |
G93R |
probably damaging |
Het |
Dhx34 |
C |
A |
7: 15,944,448 (GRCm39) |
V589F |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dmrta1 |
C |
A |
4: 89,576,561 (GRCm39) |
H6N |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,546,851 (GRCm39) |
L285P |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
Ehbp1l1 |
C |
T |
19: 5,770,851 (GRCm39) |
R230Q |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,534,954 (GRCm39) |
V2337G |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,442,400 (GRCm39) |
V150E |
probably damaging |
Het |
Fkbp11 |
G |
A |
15: 98,624,389 (GRCm39) |
R122* |
probably null |
Het |
Fkbp5 |
C |
T |
17: 28,631,013 (GRCm39) |
E251K |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,071,756 (GRCm39) |
K88E |
probably damaging |
Het |
Frrs1 |
T |
C |
3: 116,685,529 (GRCm39) |
V300A |
possibly damaging |
Het |
Glud1 |
T |
G |
14: 34,047,479 (GRCm39) |
L198V |
possibly damaging |
Het |
Gsdmc |
A |
T |
15: 63,649,845 (GRCm39) |
W349R |
possibly damaging |
Het |
Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
Haus2 |
T |
A |
2: 120,443,570 (GRCm39) |
D75E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,682,172 (GRCm39) |
F459L |
probably damaging |
Het |
Ighe |
A |
T |
12: 113,235,428 (GRCm39) |
V272E |
|
Het |
Iqgap1 |
C |
T |
7: 80,393,636 (GRCm39) |
R647H |
probably benign |
Het |
Jmy |
T |
C |
13: 93,635,703 (GRCm39) |
I38V |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 191,873,167 (GRCm39) |
|
probably benign |
Het |
Kctd20 |
C |
T |
17: 29,181,849 (GRCm39) |
A167V |
probably damaging |
Het |
Klhl38 |
A |
T |
15: 58,178,395 (GRCm39) |
V525E |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,862,788 (GRCm39) |
D259G |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,052,036 (GRCm39) |
C443S |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,556,631 (GRCm39) |
V107A |
probably benign |
Het |
Myl7 |
A |
G |
11: 5,847,157 (GRCm39) |
M132T |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,666,522 (GRCm39) |
V11A |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,355,236 (GRCm39) |
I1642V |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,665,468 (GRCm39) |
T274A |
probably benign |
Het |
Or6c214 |
T |
C |
10: 129,591,224 (GRCm39) |
T32A |
probably benign |
Het |
Or7g25 |
C |
A |
9: 19,160,736 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
C |
T |
9: 38,584,624 (GRCm39) |
V39M |
probably benign |
Het |
Pcdhb2 |
C |
T |
18: 37,429,113 (GRCm39) |
A362V |
probably benign |
Het |
Pnp2 |
A |
T |
14: 51,201,016 (GRCm39) |
D167V |
possibly damaging |
Het |
Rasa1 |
G |
A |
13: 85,403,530 (GRCm39) |
T282I |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,265,476 (GRCm39) |
D354G |
probably damaging |
Het |
Rpap1 |
C |
T |
2: 119,605,893 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Shank3 |
A |
G |
15: 89,389,648 (GRCm39) |
D415G |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,003,014 (GRCm39) |
I182V |
probably damaging |
Het |
Slc6a13 |
A |
G |
6: 121,312,589 (GRCm39) |
Y441C |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,479,446 (GRCm39) |
E193* |
probably null |
Het |
Spag9 |
T |
C |
11: 94,002,892 (GRCm39) |
I1134T |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,025,351 (GRCm39) |
|
probably null |
Het |
Stk3 |
A |
G |
15: 35,115,732 (GRCm39) |
V29A |
possibly damaging |
Het |
Tgfbr1 |
A |
T |
4: 47,403,489 (GRCm39) |
I365F |
probably damaging |
Het |
Thpo |
C |
T |
16: 20,547,540 (GRCm39) |
V24I |
probably benign |
Het |
Tle1 |
A |
C |
4: 72,117,552 (GRCm39) |
L36R |
probably damaging |
Het |
Togaram2 |
T |
C |
17: 71,996,168 (GRCm39) |
V57A |
probably benign |
Het |
Ttll9 |
C |
T |
2: 152,848,895 (GRCm39) |
A459V |
probably benign |
Het |
Ush1c |
T |
C |
7: 45,870,848 (GRCm39) |
I330V |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,414,718 (GRCm39) |
M2906T |
|
Het |
Vmn2r28 |
A |
T |
7: 5,493,613 (GRCm39) |
M111K |
probably benign |
Het |
Vmn2r97 |
T |
C |
17: 19,167,416 (GRCm39) |
C557R |
probably damaging |
Het |
Zfp873 |
T |
A |
10: 81,896,109 (GRCm39) |
I280K |
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 |
|
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 |
|
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'- GCGTCAAGCTAGGTACTCACAC -3'
(R):5'- GATGAGCCTTGCCTGAGTTC -3'
Sequencing Primer
(F):5'- CACTTAGATCATCATTGAGGGCGC -3'
(R):5'- CCACAGTGTGTCTATGGGAC -3'
|
Posted On |
2019-12-20 |