Incidental Mutation 'R8477:Exosc10'
| ID |
657296 |
| 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 |
067921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R8477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148642886-148666858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148649847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 426
(I426L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017408]
[ENSMUST00000076022]
[ENSMUST00000097781]
|
| AlphaFold |
P56960 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017408
AA Change: I426L
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264
AA Change: I426L
| 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 |
possibly damaging
Transcript: ENSMUST00000076022
AA Change: I426L
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264
AA Change: I426L
| 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: I426L
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264
AA Change: I426L
| 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
|
| Meta Mutation Damage Score |
0.1259 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,174 (GRCm39) |
S94L |
probably benign |
Het |
| Ackr1 |
C |
T |
1: 173,159,755 (GRCm39) |
G255R |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,337,785 (GRCm39) |
T560I |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,266 (GRCm39) |
F384I |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,943,679 (GRCm39) |
Q2671L |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,844,223 (GRCm39) |
E95G |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,385,385 (GRCm39) |
H2298Q |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,246,467 (GRCm39) |
|
probably null |
Het |
| Csnk1g1 |
T |
C |
9: 65,909,555 (GRCm39) |
L224P |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,708 (GRCm39) |
K241N |
probably benign |
Het |
| Cyp2c55 |
G |
T |
19: 38,999,485 (GRCm39) |
V64L |
probably damaging |
Het |
| Dlgap1 |
A |
C |
17: 70,823,967 (GRCm39) |
Q317H |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,505,212 (GRCm39) |
D108G |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,243,390 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,138,958 (GRCm39) |
R424G |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,672 (GRCm39) |
K367R |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,891 (GRCm39) |
Y228C |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gm19965 |
A |
C |
1: 116,730,854 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,548,133 (GRCm39) |
K1640E |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,879,182 (GRCm39) |
C1557S |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,029,684 (GRCm39) |
S799N |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,617,185 (GRCm39) |
W17R |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,696 (GRCm39) |
T2592S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,200 (GRCm39) |
T113I |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,370,006 (GRCm39) |
V211D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,105 (GRCm39) |
Y121C |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,992,138 (GRCm39) |
T597A |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,581,279 (GRCm39) |
E688G |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,644,539 (GRCm39) |
A589T |
possibly damaging |
Het |
| Limch1 |
G |
A |
5: 67,131,908 (GRCm39) |
V133I |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,164,407 (GRCm39) |
A1670T |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,684,942 (GRCm39) |
L949Q |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,159,219 (GRCm39) |
V833A |
probably benign |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,099 (GRCm39) |
Y290N |
probably damaging |
Het |
| Osgep |
C |
A |
14: 51,155,334 (GRCm39) |
A75S |
probably damaging |
Het |
| Pank1 |
C |
A |
19: 34,856,055 (GRCm39) |
R141L |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,307 (GRCm39) |
S278T |
probably benign |
Het |
| Pcdhgb8 |
C |
A |
18: 37,896,365 (GRCm39) |
F478L |
probably benign |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,626,312 (GRCm39) |
P1613S |
probably benign |
Het |
| Pramel55 |
A |
C |
5: 95,949,567 (GRCm39) |
M105L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,381,124 (GRCm39) |
S251A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,320,029 (GRCm39) |
H546R |
probably damaging |
Het |
| Reck |
G |
T |
4: 43,891,011 (GRCm39) |
V50L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,184 (GRCm39) |
T164A |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,346 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,575,183 (GRCm39) |
T959A |
probably damaging |
Het |
| Slc28a3 |
T |
A |
13: 58,724,609 (GRCm39) |
N215I |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,210,119 (GRCm39) |
V35I |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,718,986 (GRCm39) |
S610T |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,079 (GRCm39) |
F1624L |
probably benign |
Het |
| Tmem147 |
T |
A |
7: 30,427,656 (GRCm39) |
M86L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,636,622 (GRCm39) |
V195A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,774,038 (GRCm39) |
S112G |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,078,693 (GRCm39) |
V424A |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,200 (GRCm39) |
I252M |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp37 |
A |
G |
4: 62,110,240 (GRCm39) |
C275R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,137 (GRCm39) |
I357F |
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 |
|
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 |
|
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'- TGACATTGAGTGGCTGCAG -3'
(R):5'- TGGGAATGTAACAACCGCTC -3'
Sequencing Primer
(F):5'- CTGCAGAAAGACTTCGGACTCTATG -3'
(R):5'- GTCTACAGTGTGAGTTCCAAGACAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation