Incidental Mutation 'IGL02412:Exosc10'
| ID |
294402 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Exosc10
|
| Ensembl Gene |
ENSMUSG00000017264 |
| Gene Name |
exosome component 10 |
| Synonyms |
PM-Scl, Pmscl2, p2, p3, p4, RRP6, PM/Scl-100 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL02412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148652849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 488
(D488G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
| AlphaFold |
P56960 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017408
AA Change: D488G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: D488G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMC2NT
|
44 |
133 |
2.7e-26 |
PFAM |
|
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
|
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
|
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
|
low complexity region
|
745 |
760 |
N/A |
INTRINSIC |
|
coiled coil region
|
769 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076022
AA Change: D488G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: D488G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMC2NT
|
43 |
134 |
5.1e-30 |
PFAM |
|
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
|
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
|
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
|
low complexity region
|
720 |
735 |
N/A |
INTRINSIC |
|
coiled coil region
|
744 |
775 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097781
AA Change: D488G
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: D488G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMC2NT
|
43 |
134 |
1.4e-30 |
PFAM |
|
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
|
35EXOc
|
288 |
456 |
7.84e-53 |
SMART |
|
HRDC
|
503 |
583 |
8.24e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120110
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173767
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a conditional allele appear phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,605,854 (GRCm39) |
F2032L |
possibly damaging |
Het |
| Caps2 |
T |
C |
10: 112,039,941 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
A |
T |
19: 6,824,012 (GRCm39) |
F1414I |
probably damaging |
Het |
| Cr1l |
T |
G |
1: 194,797,080 (GRCm39) |
Y319S |
probably damaging |
Het |
| Cr1l |
C |
T |
1: 194,797,074 (GRCm39) |
G283E |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,407,165 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
A |
5: 125,508,692 (GRCm39) |
K81M |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,778,820 (GRCm39) |
M326L |
probably benign |
Het |
| Gm2058 |
G |
A |
7: 39,238,457 (GRCm39) |
|
noncoding transcript |
Het |
| Gm43638 |
T |
A |
5: 87,633,995 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,307 (GRCm39) |
D119G |
probably damaging |
Het |
| Gnb3 |
A |
C |
6: 124,814,425 (GRCm39) |
M120R |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,301,899 (GRCm39) |
D74E |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,851,561 (GRCm39) |
F382L |
probably benign |
Het |
| Krt33a |
G |
T |
11: 99,902,805 (GRCm39) |
Q340K |
probably benign |
Het |
| Lrrc17 |
T |
A |
5: 21,765,877 (GRCm39) |
S120T |
possibly damaging |
Het |
| Mapk3 |
C |
A |
7: 126,362,210 (GRCm39) |
Y56* |
probably null |
Het |
| Mfhas1 |
C |
T |
8: 36,055,969 (GRCm39) |
A148V |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,005 (GRCm39) |
I713V |
probably damaging |
Het |
| Obp1a |
T |
A |
X: 77,131,980 (GRCm39) |
Y108F |
probably damaging |
Het |
| Or51f1d |
A |
T |
7: 102,701,359 (GRCm39) |
M285L |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,555 (GRCm39) |
L13H |
probably damaging |
Het |
| Or6n1 |
T |
C |
1: 173,916,809 (GRCm39) |
F68L |
probably benign |
Het |
| Or7e178 |
T |
A |
9: 20,225,935 (GRCm39) |
S86C |
probably benign |
Het |
| Pias1 |
A |
T |
9: 62,800,421 (GRCm39) |
N430K |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,254,052 (GRCm39) |
A836D |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,245,497 (GRCm39) |
E238G |
probably benign |
Het |
| Samt4 |
T |
G |
X: 153,267,118 (GRCm39) |
S86A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,379,842 (GRCm39) |
M1219T |
probably benign |
Het |
| Sh3pxd2b |
T |
A |
11: 32,337,992 (GRCm39) |
D99E |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,723 (GRCm39) |
T573S |
probably benign |
Het |
| Sugct |
A |
G |
13: 17,837,386 (GRCm39) |
W82R |
probably damaging |
Het |
| Syt4 |
T |
G |
18: 31,576,896 (GRCm39) |
K153Q |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,908 (GRCm39) |
|
probably null |
Het |
| Tex36 |
C |
T |
7: 133,189,137 (GRCm39) |
R145K |
probably benign |
Het |
| Tfap2b |
A |
T |
1: 19,289,427 (GRCm39) |
D166V |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,322,830 (GRCm39) |
Y694C |
probably damaging |
Het |
| Trpc1 |
G |
A |
9: 95,618,914 (GRCm39) |
L146F |
probably damaging |
Het |
| Ttc29 |
G |
A |
8: 79,003,569 (GRCm39) |
E262K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,547,293 (GRCm39) |
I32251N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,612,691 (GRCm39) |
D17129E |
probably benign |
Het |
| Ucma |
T |
A |
2: 4,981,636 (GRCm39) |
I47N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,474 (GRCm39) |
K211M |
possibly damaging |
Het |
| Vmn2r95 |
A |
C |
17: 18,660,218 (GRCm39) |
H210P |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,476,767 (GRCm39) |
E444G |
probably benign |
Het |
| Yy1 |
T |
C |
12: 108,760,023 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,954,422 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,720,043 (GRCm39) |
Y1080* |
probably null |
Het |
|
| Other mutations in Exosc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Exosc10
|
APN |
4 |
148,649,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01591:Exosc10
|
APN |
4 |
148,647,344 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01990:Exosc10
|
APN |
4 |
148,650,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02137:Exosc10
|
APN |
4 |
148,645,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02186:Exosc10
|
APN |
4 |
148,649,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02880:Exosc10
|
APN |
4 |
148,660,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Exosc10
|
UTSW |
4 |
148,649,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0267:Exosc10
|
UTSW |
4 |
148,647,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0592:Exosc10
|
UTSW |
4 |
148,665,570 (GRCm39) |
missense |
probably benign |
|
|
R1122:Exosc10
|
UTSW |
4 |
148,650,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1218:Exosc10
|
UTSW |
4 |
148,654,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Exosc10
|
UTSW |
4 |
148,666,243 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1591:Exosc10
|
UTSW |
4 |
148,652,840 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1719:Exosc10
|
UTSW |
4 |
148,652,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Exosc10
|
UTSW |
4 |
148,662,926 (GRCm39) |
nonsense |
probably null |
|
|
R3727:Exosc10
|
UTSW |
4 |
148,649,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3842:Exosc10
|
UTSW |
4 |
148,648,322 (GRCm39) |
nonsense |
probably null |
|
|
R3876:Exosc10
|
UTSW |
4 |
148,657,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4476:Exosc10
|
UTSW |
4 |
148,649,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4750:Exosc10
|
UTSW |
4 |
148,646,851 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5306:Exosc10
|
UTSW |
4 |
148,646,849 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5438:Exosc10
|
UTSW |
4 |
148,650,799 (GRCm39) |
nonsense |
probably null |
|
|
R5835:Exosc10
|
UTSW |
4 |
148,649,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Exosc10
|
UTSW |
4 |
148,657,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6116:Exosc10
|
UTSW |
4 |
148,657,810 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6217:Exosc10
|
UTSW |
4 |
148,666,768 (GRCm39) |
splice site |
probably null |
|
|
R6365:Exosc10
|
UTSW |
4 |
148,645,562 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6495:Exosc10
|
UTSW |
4 |
148,647,329 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6498:Exosc10
|
UTSW |
4 |
148,657,795 (GRCm39) |
missense |
probably benign |
|
|
R6772:Exosc10
|
UTSW |
4 |
148,665,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Exosc10
|
UTSW |
4 |
148,664,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Exosc10
|
UTSW |
4 |
148,648,299 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7698:Exosc10
|
UTSW |
4 |
148,642,955 (GRCm39) |
missense |
probably benign |
|
|
R7967:Exosc10
|
UTSW |
4 |
148,649,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Exosc10
|
UTSW |
4 |
148,649,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8477:Exosc10
|
UTSW |
4 |
148,649,847 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8510:Exosc10
|
UTSW |
4 |
148,648,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Exosc10
|
UTSW |
4 |
148,653,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8826:Exosc10
|
UTSW |
4 |
148,653,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9080:Exosc10
|
UTSW |
4 |
148,649,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Exosc10
|
UTSW |
4 |
148,664,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9159:Exosc10
|
UTSW |
4 |
148,663,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9188:Exosc10
|
UTSW |
4 |
148,643,017 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9337:Exosc10
|
UTSW |
4 |
148,665,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Exosc10
|
UTSW |
4 |
148,649,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Exosc10
|
UTSW |
4 |
148,649,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation