Incidental Mutation 'R4116:Abcc10'
| ID |
314655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc10
|
| Ensembl Gene |
ENSMUSG00000032842 |
| Gene Name |
ATP-binding cassette, sub-family C member 10 |
| Synonyms |
Mrp7 |
| MMRRC Submission |
040859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46614146-46638954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46634817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 395
(F395L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
| AlphaFold |
Q8R4P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047970
AA Change: F395L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: F395L
| 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: F354L
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: F354L
| 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 benign
Transcript: ENSMUST00000167360
AA Change: F395L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: F395L
| 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: F395L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: F395L
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
| Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
| Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
| Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
| Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
| Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
| Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
| Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
| Sf3a2 |
A |
G |
10: 80,637,175 (GRCm39) |
T37A |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
| Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
|
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'- GTAGCATCTCCTGGTTGCTG -3'
(R):5'- AAGGTCAAGAGCCTCTAAGCC -3'
Sequencing Primer
(F):5'- CCTGGTTGCTGGCCATGATTC -3'
(R):5'- TAAGCCACGGCCTGCTCTATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation