Incidental Mutation 'R3040:Isg20l2'
| ID |
264914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isg20l2
|
| Ensembl Gene |
ENSMUSG00000048039 |
| Gene Name |
interferon stimulated exonuclease gene 20-like 2 |
| Synonyms |
|
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87837621-87847993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87839302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 171
(V171A)
|
| 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 benign
Transcript: ENSMUST00000055984
AA Change: V171A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059783
Gene: ENSMUSG00000048039
AA Change: V171A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
| Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
Het |
|
| Other mutations in Isg20l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Isg20l2
|
APN |
3 |
87,839,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCACCATTGTCTTGGCTG -3'
(R):5'- ATCGTACAGCACATCACCATTG -3'
Sequencing Primer
(F):5'- TGCTCCTTCAAAGAAGACTGC -3'
(R):5'- GTAATTTACAATGCTGCATCGAGCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation