Incidental Mutation 'R1426:Abcc10'
| ID |
162266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc10
|
| Ensembl Gene |
ENSMUSG00000032842 |
| Gene Name |
ATP-binding cassette, sub-family C member 10 |
| Synonyms |
Mrp7 |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46635361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 214
(V214E)
|
| 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: V214E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: V214E
| 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: V173E
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: V173E
| 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: V214E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: V214E
| 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 damaging
Transcript: ENSMUST00000171584
AA Change: V214E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: V214E
| 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 |
0.0755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
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 |
|
|
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 |
|
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'- CATCTTCAACAGTCCAAGGGCCAG -3'
(R):5'- TTGTTTTGCCTCCAGGGTCACG -3'
Sequencing Primer
(F):5'- GGGCCAGGTAGCAACATC -3'
(R):5'- CCCTTATGGCTAGAGGTGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation