Incidental Mutation 'R8981:Exosc7'
| ID |
683737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exosc7
|
| Ensembl Gene |
ENSMUSG00000025785 |
| Gene Name |
exosome component 7 |
| Synonyms |
2610002K22Rik |
| MMRRC Submission |
068814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R8981 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122942310-122965194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122942365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 12
(V12A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026891]
[ENSMUST00000026892]
[ENSMUST00000123937]
[ENSMUST00000130717]
[ENSMUST00000138622]
[ENSMUST00000140497]
[ENSMUST00000147563]
[ENSMUST00000150679]
[ENSMUST00000152396]
[ENSMUST00000155778]
[ENSMUST00000215377]
|
| AlphaFold |
Q9D0M0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026891
AA Change: V12A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026891
Gene: ENSMUSG00000025785
AA Change: V12A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
31 |
166 |
5.8e-27 |
PFAM |
|
Pfam:RNase_PH_C
|
196 |
262 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026892
|
| SMART Domains |
Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123937
|
| SMART Domains |
Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130717
|
| SMART Domains |
Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138622
|
| SMART Domains |
Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140497
|
| SMART Domains |
Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147563
|
| SMART Domains |
Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
92 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
125 |
255 |
3.8e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150679
|
| SMART Domains |
Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152396
|
| SMART Domains |
Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155778
|
| SMART Domains |
Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215377
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,103,840 (GRCm39) |
I602L |
probably benign |
Het |
| Adarb2 |
C |
T |
13: 8,751,653 (GRCm39) |
R473C |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,038,669 (GRCm39) |
I210M |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,033 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,926,162 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,919,457 (GRCm39) |
F112L |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,965,527 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dcun1d5 |
T |
A |
9: 7,189,205 (GRCm39) |
M98K |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,801,796 (GRCm39) |
T1774S |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,677 (GRCm39) |
Y283C |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,880,916 (GRCm39) |
D590G |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,042,261 (GRCm39) |
N469S |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,061,633 (GRCm39) |
V9E |
probably benign |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,827,554 (GRCm39) |
N3D |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,622,383 (GRCm39) |
K157E |
probably damaging |
Het |
| Mthfr |
A |
T |
4: 148,139,451 (GRCm39) |
I588F |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,825 (GRCm39) |
C15* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,391,316 (GRCm39) |
T942A |
probably benign |
Het |
| Myorg |
T |
C |
4: 41,498,209 (GRCm39) |
S474G |
possibly damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,561 (GRCm39) |
M309T |
probably benign |
Het |
| Or2d3b |
T |
C |
7: 106,513,590 (GRCm39) |
F62L |
probably benign |
Het |
| Phf11c |
G |
A |
14: 59,628,412 (GRCm39) |
S79L |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,226 (GRCm39) |
V938D |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,121 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,997 (GRCm39) |
V348I |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,657,043 (GRCm39) |
I100V |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,734,508 (GRCm39) |
S504A |
possibly damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,948,580 (GRCm39) |
T567A |
probably benign |
Het |
| Slfn14 |
A |
T |
11: 83,174,455 (GRCm39) |
F179I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,849,354 (GRCm39) |
H934R |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,380,883 (GRCm39) |
V326A |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,523,187 (GRCm39) |
W74R |
possibly damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,312,014 (GRCm39) |
S419A |
probably benign |
Het |
| Vac14 |
A |
G |
8: 111,438,226 (GRCm39) |
E613G |
probably damaging |
Het |
| Vmn1r220 |
C |
A |
13: 23,368,423 (GRCm39) |
R91L |
probably damaging |
Het |
| Vrk1 |
C |
T |
12: 106,036,953 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Exosc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Exosc7
|
APN |
9 |
122,964,956 (GRCm39) |
splice site |
probably benign |
|
|
R0029:Exosc7
|
UTSW |
9 |
122,948,302 (GRCm39) |
splice site |
probably benign |
|
|
R0029:Exosc7
|
UTSW |
9 |
122,948,302 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Exosc7
|
UTSW |
9 |
122,948,025 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0319:Exosc7
|
UTSW |
9 |
122,960,025 (GRCm39) |
unclassified |
probably benign |
|
|
R0830:Exosc7
|
UTSW |
9 |
122,948,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1593:Exosc7
|
UTSW |
9 |
122,961,058 (GRCm39) |
missense |
probably benign |
|
|
R5388:Exosc7
|
UTSW |
9 |
122,947,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6534:Exosc7
|
UTSW |
9 |
122,961,077 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6886:Exosc7
|
UTSW |
9 |
122,965,023 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7313:Exosc7
|
UTSW |
9 |
122,948,013 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7833:Exosc7
|
UTSW |
9 |
122,959,984 (GRCm39) |
missense |
probably benign |
|
|
R8313:Exosc7
|
UTSW |
9 |
122,956,942 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9789:Exosc7
|
UTSW |
9 |
122,959,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAATCTGGAGGCAGCTAG -3'
(R):5'- CTCCCTGATGAGCTAGGAATCTCC -3'
Sequencing Primer
(F):5'- GACTCGGCCTCACACGG -3'
(R):5'- GGAATCTCCTCCATCCCGAGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation