Incidental Mutation 'R0267:Exosc10'
| ID |
34985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc10
|
| Ensembl Gene |
ENSMUSG00000017264 |
| Gene Name |
exosome component 10 |
| Synonyms |
PM-Scl, Pmscl2, p2, p3, p4, RRP6, PM/Scl-100 |
| MMRRC Submission |
038493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0267 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148647213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 174
(L174P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
| AlphaFold |
P56960 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017408
AA Change: L174P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: L174P
| 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 damaging
Transcript: ENSMUST00000076022
AA Change: L174P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: L174P
| 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 damaging
Transcript: ENSMUST00000097781
AA Change: L174P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: L174P
| 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 |
probably benign
Transcript: ENSMUST00000150723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173767
|
| Meta Mutation Damage Score |
0.7490 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
| Validation Efficiency |
97% (64/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,105 (GRCm39) |
F1721S |
probably damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
| Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
| Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
| Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
| Cped1 |
T |
A |
6: 22,119,475 (GRCm39) |
F311L |
probably damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
| Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
| Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,710,921 (GRCm39) |
E443G |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
| Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
| Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
| Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
| Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
| Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
| Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
| Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
| Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,333,426 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
| Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
| Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
probably damaging |
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 |
|
IGL02412:Exosc10
|
APN |
4 |
148,652,849 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACAAGCATCAGCAGCCTGTC -3'
(R):5'- AGCGAGGTTGAACTCTCAAGCAC -3'
Sequencing Primer
(F):5'- TTGCTGCAAGTAGCTGACC -3'
(R):5'- GTTGAACTCTCAAGCACTTCAAAGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation