Incidental Mutation 'R6927:Abcc10'
| ID |
541185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc10
|
| Ensembl Gene |
ENSMUSG00000032842 |
| Gene Name |
ATP-binding cassette, sub-family C member 10 |
| Synonyms |
Mrp7 |
| MMRRC Submission |
045044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6927 (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 46635317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 229
(W229R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
| AlphaFold |
Q8R4P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047970
AA Change: W229R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: W229R
| 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 damaging
Transcript: ENSMUST00000095261
AA Change: W188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: W188R
| 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 damaging
Transcript: ENSMUST00000167360
AA Change: W229R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: W229R
| 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 damaging
Transcript: ENSMUST00000171584
AA Change: W229R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: W229R
| 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 |
0.9556 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,935,072 (GRCm39) |
K208E |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,893,546 (GRCm39) |
P439S |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
| Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
| Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
| Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
| Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
| Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
| Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
| Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
| Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
| Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
| Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
G |
C |
9: 101,052,547 (GRCm39) |
H221D |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
| Slc22a23 |
G |
T |
13: 34,528,362 (GRCm39) |
A140D |
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,103,300 (GRCm39) |
H812R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
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 |
|
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 |
|
|
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'- GGCCAGGTAGCAACATCCAAAG -3'
(R):5'- CCAGCGAGGTACATTTCTGC -3'
Sequencing Primer
(F):5'- GTAGCAACATCCAAAGGCCCTG -3'
(R):5'- GAGGTACATTTCTGCCCCCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation