Incidental Mutation 'R1679:Isg20l2'
ID |
188339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Isg20l2
|
Ensembl Gene |
ENSMUSG00000048039 |
Gene Name |
interferon stimulated exonuclease gene 20-like 2 |
Synonyms |
|
MMRRC Submission |
039715-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
R1679 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87837621-87847993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87839392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 201
(M201K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005016]
[ENSMUST00000055984]
[ENSMUST00000160074]
[ENSMUST00000160648]
[ENSMUST00000160143]
[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: M201K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059783 Gene: ENSMUSG00000048039 AA Change: M201K
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 |
noncoding transcript
Transcript: ENSMUST00000161471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168070
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160648
|
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 |
probably benign
Transcript: ENSMUST00000164439
|
Meta Mutation Damage Score |
0.9451 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (51/52) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGCCCTTCCAAAGACTAAGAGC -3'
(R):5'- ACTTGCTGAAAGTCCTCTCCAGACC -3'
Sequencing Primer
(F):5'- CTCCAAGAAGAAGTCCTTGAAAAAG -3'
(R):5'- CTGACTCCGAGCAGTCTTAAAGG -3'
|
Posted On |
2014-05-09 |