Incidental Mutation 'R6623:Abcc10'
| ID |
524630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc10
|
| Ensembl Gene |
ENSMUSG00000032842 |
| Gene Name |
ATP-binding cassette, sub-family C (CFTR/MRP), member 10 |
| Synonyms |
Mrp7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6623 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46303221-46328352 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46323462 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 460
(K460E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047970]
[ENSMUST00000095261]
[ENSMUST00000167360]
[ENSMUST00000168490]
[ENSMUST00000171584]
|
| AlphaFold |
Q8R4P9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047970
AA Change: K501E
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: K501E
| 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: K460E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: K460E
| 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: K501E
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: K501E
| 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
AA Change: K39E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000132760
Gene: ENSMUSG00000032842
AA Change: K39E
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
75 |
242 |
4.61e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170168
|
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (29/29) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230104L09Rik |
A |
T |
2: 148,850,762 |
I40K |
probably benign |
Het |
| Acaca |
A |
C |
11: 84,371,499 |
|
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,795,637 |
S628P |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,786,757 |
N101S |
probably benign |
Het |
| Asic5 |
G |
A |
3: 82,008,585 |
V281M |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,099,972 |
S553P |
probably damaging |
Het |
| Fndc3c1 |
G |
C |
X: 106,435,073 |
L724V |
possibly damaging |
Homo |
| Hmcn1 |
A |
G |
1: 150,758,306 |
F843S |
probably benign |
Het |
| Igkv10-96 |
T |
G |
6: 68,632,174 |
S46R |
probably damaging |
Het |
| Itfg2 |
G |
T |
6: 128,411,657 |
A289D |
probably damaging |
Het |
| Klc1 |
C |
A |
12: 111,806,041 |
N597K |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 147,024,487 |
V545A |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,695,603 |
I344V |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,639,559 |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,223,359 |
A317S |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,181,297 |
C251S |
probably damaging |
Het |
| Olfr556 |
T |
G |
7: 102,670,034 |
M38R |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,437,658 |
T619I |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,322,771 |
M1672K |
probably damaging |
Het |
| Prl |
G |
T |
13: 27,061,509 |
V72L |
probably benign |
Het |
| Prokr2 |
G |
T |
2: 132,373,574 |
N161K |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,710,065 |
D2454G |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,664,900 |
M218K |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,788,505 |
A992V |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,632,561 |
I50T |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,718,294 |
I570M |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 75,206,384 |
I53F |
probably damaging |
Het |
| Vmn1r113 |
T |
A |
7: 20,788,066 |
M261K |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,114,676 |
I19F |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,471,501 |
T843A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,407,101 |
I610L |
possibly damaging |
Het |
|
| Other mutations in Abcc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Abcc10
|
APN |
17 |
46323745 |
missense |
probably damaging |
1.00 |
|
IGL01115:Abcc10
|
APN |
17 |
46310426 |
missense |
probably benign |
|
|
IGL01380:Abcc10
|
APN |
17 |
46324022 |
missense |
possibly damaging |
0.90 |
|
IGL01476:Abcc10
|
APN |
17 |
46327937 |
utr 5 prime |
probably benign |
|
|
IGL01723:Abcc10
|
APN |
17 |
46313745 |
missense |
probably damaging |
1.00 |
|
IGL01867:Abcc10
|
APN |
17 |
46324438 |
missense |
probably benign |
0.07 |
|
IGL02065:Abcc10
|
APN |
17 |
46312901 |
missense |
possibly damaging |
0.60 |
|
IGL02233:Abcc10
|
APN |
17 |
46324159 |
splice site |
probably null |
|
|
IGL03394:Abcc10
|
APN |
17 |
46324351 |
missense |
probably damaging |
1.00 |
|
Decrepit
|
UTSW |
17 |
46324391 |
missense |
probably damaging |
1.00 |
|
Shrivelled
|
UTSW |
17 |
46312419 |
missense |
probably benign |
|
|
PIT4514001:Abcc10
|
UTSW |
17 |
46305648 |
missense |
probably benign |
|
|
R0366:Abcc10
|
UTSW |
17 |
46324798 |
nonsense |
probably null |
|
|
R0437:Abcc10
|
UTSW |
17 |
46312919 |
splice site |
probably null |
|
|
R0437:Abcc10
|
UTSW |
17 |
46312920 |
splice site |
probably benign |
|
|
R0549:Abcc10
|
UTSW |
17 |
46322290 |
missense |
probably damaging |
1.00 |
|
R0580:Abcc10
|
UTSW |
17 |
46305956 |
splice site |
probably null |
|
|
R1056:Abcc10
|
UTSW |
17 |
46303954 |
missense |
possibly damaging |
0.60 |
|
R1426:Abcc10
|
UTSW |
17 |
46324435 |
missense |
probably damaging |
0.97 |
|
R1595:Abcc10
|
UTSW |
17 |
46322238 |
missense |
probably damaging |
1.00 |
|
R1745:Abcc10
|
UTSW |
17 |
46312433 |
missense |
probably benign |
|
|
R1856:Abcc10
|
UTSW |
17 |
46306603 |
missense |
probably damaging |
1.00 |
|
R1968:Abcc10
|
UTSW |
17 |
46322199 |
missense |
probably damaging |
1.00 |
|
R2070:Abcc10
|
UTSW |
17 |
46303565 |
missense |
probably benign |
|
|
R2071:Abcc10
|
UTSW |
17 |
46303565 |
missense |
probably benign |
|
|
R2255:Abcc10
|
UTSW |
17 |
46305635 |
missense |
probably benign |
0.18 |
|
R2425:Abcc10
|
UTSW |
17 |
46310157 |
missense |
probably damaging |
1.00 |
|
R4116:Abcc10
|
UTSW |
17 |
46323891 |
missense |
possibly damaging |
0.50 |
|
R4510:Abcc10
|
UTSW |
17 |
46307210 |
missense |
probably damaging |
0.98 |
|
R4511:Abcc10
|
UTSW |
17 |
46307210 |
missense |
probably damaging |
0.98 |
|
R4645:Abcc10
|
UTSW |
17 |
46324774 |
missense |
probably damaging |
1.00 |
|
R4689:Abcc10
|
UTSW |
17 |
46324070 |
missense |
probably benign |
0.00 |
|
R4778:Abcc10
|
UTSW |
17 |
46304416 |
missense |
probably damaging |
1.00 |
|
R5364:Abcc10
|
UTSW |
17 |
46305651 |
missense |
probably benign |
0.25 |
|
R5384:Abcc10
|
UTSW |
17 |
46304435 |
missense |
possibly damaging |
0.83 |
|
R5509:Abcc10
|
UTSW |
17 |
46324259 |
missense |
probably benign |
0.01 |
|
R5568:Abcc10
|
UTSW |
17 |
46303908 |
splice site |
probably null |
|
|
R5798:Abcc10
|
UTSW |
17 |
46306003 |
nonsense |
probably null |
|
|
R5906:Abcc10
|
UTSW |
17 |
46316559 |
missense |
probably benign |
0.02 |
|
R5908:Abcc10
|
UTSW |
17 |
46313804 |
missense |
probably damaging |
1.00 |
|
R5942:Abcc10
|
UTSW |
17 |
46312407 |
missense |
probably benign |
0.02 |
|
R5968:Abcc10
|
UTSW |
17 |
46310151 |
missense |
probably benign |
|
|
R6038:Abcc10
|
UTSW |
17 |
46304360 |
missense |
probably damaging |
1.00 |
|
R6038:Abcc10
|
UTSW |
17 |
46304360 |
missense |
probably damaging |
1.00 |
|
R6109:Abcc10
|
UTSW |
17 |
46310377 |
missense |
probably benign |
0.00 |
|
R6851:Abcc10
|
UTSW |
17 |
46312419 |
missense |
probably benign |
|
|
R6927:Abcc10
|
UTSW |
17 |
46324391 |
missense |
probably damaging |
1.00 |
|
R7176:Abcc10
|
UTSW |
17 |
46324277 |
missense |
probably benign |
0.02 |
|
R7314:Abcc10
|
UTSW |
17 |
46315404 |
missense |
probably damaging |
0.98 |
|
R7463:Abcc10
|
UTSW |
17 |
46323772 |
missense |
probably damaging |
1.00 |
|
R7527:Abcc10
|
UTSW |
17 |
46312904 |
missense |
possibly damaging |
0.58 |
|
R7584:Abcc10
|
UTSW |
17 |
46315378 |
splice site |
probably null |
|
|
R7862:Abcc10
|
UTSW |
17 |
46315532 |
nonsense |
probably null |
|
|
R7883:Abcc10
|
UTSW |
17 |
46307101 |
missense |
probably benign |
0.03 |
|
R7896:Abcc10
|
UTSW |
17 |
46324309 |
missense |
probably benign |
0.08 |
|
R7897:Abcc10
|
UTSW |
17 |
46324073 |
missense |
probably benign |
0.00 |
|
R8316:Abcc10
|
UTSW |
17 |
46327809 |
missense |
probably damaging |
0.99 |
|
R8354:Abcc10
|
UTSW |
17 |
46324177 |
missense |
possibly damaging |
0.75 |
|
R8414:Abcc10
|
UTSW |
17 |
46312347 |
missense |
probably benign |
0.28 |
|
R8454:Abcc10
|
UTSW |
17 |
46324177 |
missense |
possibly damaging |
0.75 |
|
R8977:Abcc10
|
UTSW |
17 |
46313667 |
missense |
probably benign |
0.19 |
|
R9432:Abcc10
|
UTSW |
17 |
46323784 |
missense |
possibly damaging |
0.72 |
|
R9473:Abcc10
|
UTSW |
17 |
46306683 |
missense |
probably benign |
0.10 |
|
R9790:Abcc10
|
UTSW |
17 |
46322259 |
missense |
probably damaging |
1.00 |
|
R9791:Abcc10
|
UTSW |
17 |
46322259 |
missense |
probably damaging |
1.00 |
|
X0020:Abcc10
|
UTSW |
17 |
46324120 |
missense |
probably damaging |
0.98 |
|
Z1176:Abcc10
|
UTSW |
17 |
46313700 |
missense |
probably damaging |
0.97 |
|
Z1176:Abcc10
|
UTSW |
17 |
46324262 |
missense |
probably benign |
0.00 |
|
Z1177:Abcc10
|
UTSW |
17 |
46307062 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCTTAGCTGGGAAAGGAC -3'
(R):5'- TACGGCACAAGGATGCACG -3'
Sequencing Primer
(F):5'- GCGAGTGAAATCAGCCCTTC -3'
(R):5'- CCTTCGGCCATTTGGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation