Incidental Mutation 'IGL01135:Isg20l2'
| ID |
50781 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Isg20l2
|
| Ensembl Gene |
ENSMUSG00000048039 |
| Gene Name |
interferon stimulated exonuclease gene 20-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL01135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87837621-87847993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87839068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 93
(D93V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005016]
[ENSMUST00000055984]
[ENSMUST00000160074]
[ENSMUST00000160143]
[ENSMUST00000160648]
[ENSMUST00000164439]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005016
|
| SMART Domains |
Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_32
|
133 |
293 |
1.5e-29 |
PFAM |
|
low complexity region
|
385 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055984
AA Change: D93V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059783
Gene: ENSMUSG00000048039
AA Change: D93V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
EXOIII
|
193 |
359 |
3.34e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160074
|
| SMART Domains |
Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_32
|
69 |
229 |
1.3e-29 |
PFAM |
|
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160143
|
| SMART Domains |
Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_32
|
133 |
247 |
5e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160648
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164439
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
| Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
| Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,454,890 (GRCm39) |
S673T |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,526,208 (GRCm39) |
T147I |
probably benign |
Het |
| Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
| Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
| Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
| Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
| Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
| Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
| Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,526,071 (GRCm39) |
|
probably null |
Het |
| Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
probably damaging |
Het |
|
| Other mutations in Isg20l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02331:Isg20l2
|
APN |
3 |
87,839,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Isg20l2
|
UTSW |
3 |
87,839,019 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Isg20l2
|
UTSW |
3 |
87,839,019 (GRCm39) |
nonsense |
probably null |
|
|
FR4449:Isg20l2
|
UTSW |
3 |
87,839,020 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Isg20l2
|
UTSW |
3 |
87,839,024 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Isg20l2
|
UTSW |
3 |
87,839,022 (GRCm39) |
nonsense |
probably null |
|
|
R0331:Isg20l2
|
UTSW |
3 |
87,839,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Isg20l2
|
UTSW |
3 |
87,838,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1398:Isg20l2
|
UTSW |
3 |
87,846,061 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1679:Isg20l2
|
UTSW |
3 |
87,839,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3040:Isg20l2
|
UTSW |
3 |
87,839,302 (GRCm39) |
missense |
probably benign |
|
|
R4910:Isg20l2
|
UTSW |
3 |
87,846,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Isg20l2
|
UTSW |
3 |
87,839,288 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5247:Isg20l2
|
UTSW |
3 |
87,838,920 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5591:Isg20l2
|
UTSW |
3 |
87,837,731 (GRCm39) |
unclassified |
probably benign |
|
|
R6261:Isg20l2
|
UTSW |
3 |
87,839,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Isg20l2
|
UTSW |
3 |
87,838,996 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7459:Isg20l2
|
UTSW |
3 |
87,839,485 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9036:Isg20l2
|
UTSW |
3 |
87,839,302 (GRCm39) |
missense |
probably benign |
|
|
R9284:Isg20l2
|
UTSW |
3 |
87,838,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2013-06-21 |
Incidental Mutation