Incidental Mutation 'R6851:Abcc10'
| ID |
534990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc10
|
| Ensembl Gene |
ENSMUSG00000032842 |
| Gene Name |
ATP-binding cassette, sub-family C member 10 |
| Synonyms |
Mrp7 |
| MMRRC Submission |
044955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46623345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 856
(C856S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
| AlphaFold |
Q8R4P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047970
AA Change: C856S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: C856S
| 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 benign
Transcript: ENSMUST00000095261
AA Change: C815S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: C815S
| 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: C856S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: C856S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
| Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
| Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
| Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
| Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,218 (GRCm39) |
I48N |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
| Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
| Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
| Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
| Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
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 |
|
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'- AACATGGCTGGGGATTCCAC -3'
(R):5'- TTTTCGCTGGCACACAATG -3'
Sequencing Primer
(F):5'- ACCTGGACAACATGGCTG -3'
(R):5'- GGGAATGATTTTTAAAGCCTGCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation