Incidental Mutation 'R1037:Exosc8'
| ID |
93850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc8
|
| Ensembl Gene |
ENSMUSG00000027752 |
| Gene Name |
exosome component 8 |
| Synonyms |
2310032N20Rik |
| MMRRC Submission |
039136-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1037 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54636099-54642469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54640159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 55
(A55E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029315]
[ENSMUST00000029316]
[ENSMUST00000044567]
[ENSMUST00000153224]
[ENSMUST00000154787]
[ENSMUST00000141191]
[ENSMUST00000200441]
[ENSMUST00000155273]
[ENSMUST00000200439]
[ENSMUST00000199674]
[ENSMUST00000197502]
|
| AlphaFold |
Q9D753 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029315
|
| SMART Domains |
Protein: ENSMUSP00000029315
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
201 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029316
AA Change: A67E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752
AA Change: A67E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
166 |
2.3e-29 |
PFAM |
|
Pfam:RNase_PH_C
|
191 |
258 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044567
|
| SMART Domains |
Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
63 |
174 |
2.1e-10 |
PFAM |
|
Pfam:Glycos_transf_2
|
68 |
250 |
2.9e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135935
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153224
AA Change: A67E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752
AA Change: A67E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
130 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154787
AA Change: A55E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752
AA Change: A55E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
19 |
106 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141191
|
| SMART Domains |
Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200441
|
| SMART Domains |
Protein: ENSMUSP00000143231
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155273
|
| SMART Domains |
Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200439
|
| SMART Domains |
Protein: ENSMUSP00000143059
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
2.7e-42 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199674
|
| SMART Domains |
Protein: ENSMUSP00000142948
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
59 |
227 |
3.3e-39 |
PFAM |
|
low complexity region
|
424 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197502
|
| SMART Domains |
Protein: ENSMUSP00000143750
Gene: ENSMUSG00000027751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
56 |
N/A |
INTRINSIC |
|
Pfam:Spt20
|
62 |
227 |
1.9e-43 |
PFAM |
|
low complexity region
|
424 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
coiled coil region
|
722 |
751 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2039 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,328,240 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,875,657 (GRCm39) |
N610I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,982 (GRCm39) |
F2089L |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 97,895,843 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,730,275 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ckap5 |
T |
C |
2: 91,380,974 (GRCm39) |
I110T |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,725,702 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
C |
3: 113,987,801 (GRCm39) |
E265A |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,251 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,333,537 (GRCm39) |
T272M |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,347,193 (GRCm39) |
L415R |
probably damaging |
Het |
| Dbnl |
T |
C |
11: 5,746,807 (GRCm39) |
F179S |
probably damaging |
Het |
| Eepd1 |
T |
C |
9: 25,498,079 (GRCm39) |
L388P |
possibly damaging |
Het |
| Fam72a |
G |
A |
1: 131,461,557 (GRCm39) |
V81I |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,700,277 (GRCm39) |
M2182I |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,862,322 (GRCm39) |
P2234S |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,323,896 (GRCm39) |
D33E |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,456,163 (GRCm39) |
|
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,417 (GRCm39) |
V42E |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,378 (GRCm39) |
Q229R |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,412 (GRCm39) |
E308G |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,330 (GRCm39) |
M319V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,138,698 (GRCm39) |
I672M |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,664 (GRCm39) |
L223P |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,276,182 (GRCm39) |
K554E |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,524,246 (GRCm39) |
T383I |
probably damaging |
Het |
| Opcml |
T |
A |
9: 28,814,595 (GRCm39) |
D290E |
probably damaging |
Het |
| Or10a3b |
T |
A |
7: 108,445,191 (GRCm39) |
T9S |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,376 (GRCm39) |
D189V |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,573 (GRCm39) |
I252T |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,333 (GRCm39) |
Y60C |
probably damaging |
Het |
| Palm3 |
C |
A |
8: 84,755,901 (GRCm39) |
T471K |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,360,492 (GRCm39) |
L50* |
probably null |
Het |
| Pzp |
T |
C |
6: 128,496,389 (GRCm39) |
N281S |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,590,900 (GRCm39) |
Y1722C |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,699,453 (GRCm39) |
V879A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,531,975 (GRCm39) |
S736P |
possibly damaging |
Het |
| Septin5 |
G |
A |
16: 18,441,844 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,298,996 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,010,433 (GRCm39) |
T1976S |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,246,320 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,446,688 (GRCm39) |
W853R |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,953,532 (GRCm39) |
Q983L |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,347 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,638,606 (GRCm39) |
V294D |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,082 (GRCm39) |
S463G |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,385 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
G |
11: 43,621,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,278 (GRCm39) |
R303H |
possibly damaging |
Het |
| Vwa8 |
C |
A |
14: 79,324,094 (GRCm39) |
C1132* |
probably null |
Het |
|
| Other mutations in Exosc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Exosc8
|
APN |
3 |
54,636,686 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03348:Exosc8
|
APN |
3 |
54,640,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1233:Exosc8
|
UTSW |
3 |
54,639,419 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1623:Exosc8
|
UTSW |
3 |
54,641,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1647:Exosc8
|
UTSW |
3 |
54,641,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1928:Exosc8
|
UTSW |
3 |
54,636,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3005:Exosc8
|
UTSW |
3 |
54,639,568 (GRCm39) |
splice site |
probably null |
|
|
R4851:Exosc8
|
UTSW |
3 |
54,639,523 (GRCm39) |
unclassified |
probably benign |
|
|
R4932:Exosc8
|
UTSW |
3 |
54,636,711 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5010:Exosc8
|
UTSW |
3 |
54,636,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Exosc8
|
UTSW |
3 |
54,638,600 (GRCm39) |
unclassified |
probably benign |
|
|
R5860:Exosc8
|
UTSW |
3 |
54,642,463 (GRCm39) |
unclassified |
probably benign |
|
|
R6887:Exosc8
|
UTSW |
3 |
54,641,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Exosc8
|
UTSW |
3 |
54,636,669 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9130:Exosc8
|
UTSW |
3 |
54,638,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTTGGCAAACTGAAGTTCTTGG -3'
(R):5'- CTGCTGAACAAGTCATAGGGTGGG -3'
Sequencing Primer
(F):5'- CCGTTATCTTCTGATAAGCAGAAAGC -3'
(R):5'- AGCACAGTTTGATTACACTGCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation