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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Methyltransf_32 133 247 5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164439
Meta Mutation Damage Score 0.9451 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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