Incidental Mutation 'R6755:Isg20l2'
ID 530992
Institutional Source Beutler Lab
Gene Symbol Isg20l2
Ensembl Gene ENSMUSG00000048039
Gene Name interferon stimulated exonuclease gene 20-like 2
Synonyms
MMRRC Submission 044871-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87837621-87847993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87838996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 69 (I69N)
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

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 benign
Transcript: ENSMUST00000055984
AA Change: I69N

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059783
Gene: ENSMUSG00000048039
AA Change: I69N

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 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: ENSMUST00000160648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161014
Predicted Effect probably benign
Transcript: ENSMUST00000164439
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,475,994 (GRCm39) T1101M probably benign Het
4930433I11Rik T C 7: 40,643,734 (GRCm39) S468P probably damaging Het
Adam33 A G 2: 130,895,069 (GRCm39) V637A probably damaging Het
Adcy5 G A 16: 35,124,004 (GRCm39) V1228M possibly damaging Het
Ahi1 G T 10: 20,893,812 (GRCm39) V848F probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
B4galt6 T C 18: 20,822,386 (GRCm39) E264G probably benign Het
Bpifb4 A G 2: 153,799,658 (GRCm39) T556A probably damaging Het
Bptf A T 11: 106,938,082 (GRCm39) S64T probably benign Het
C3ar1 A G 6: 122,826,817 (GRCm39) S467P probably benign Het
Cables1 G T 18: 12,072,882 (GRCm39) S479I probably null Het
Cbl T C 9: 44,084,671 (GRCm39) I155V probably damaging Het
Cdh16 T C 8: 105,345,880 (GRCm39) D297G probably damaging Het
Cdk8 T A 5: 146,205,126 (GRCm39) H102Q probably damaging Het
Cpn2 A T 16: 30,079,149 (GRCm39) L184Q probably damaging Het
Ctso T A 3: 81,849,609 (GRCm39) H109Q probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drc1 A G 5: 30,512,490 (GRCm39) E299G probably damaging Het
Elp6 A G 9: 110,144,893 (GRCm39) E150G possibly damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbn2 A G 18: 58,246,405 (GRCm39) L499S possibly damaging Het
Fgf10 C A 13: 118,925,821 (GRCm39) A200D probably damaging Het
Fhad1 T C 4: 141,691,915 (GRCm39) E407G probably damaging Het
Hif1an T C 19: 44,556,891 (GRCm39) V232A probably damaging Het
Ift172 T A 5: 31,418,342 (GRCm39) K1214* probably null Het
Il20ra T C 10: 19,626,542 (GRCm39) Y189H probably benign Het
Kif11 A G 19: 37,398,199 (GRCm39) D675G probably benign Het
Klhdc7a T A 4: 139,693,786 (GRCm39) D387V possibly damaging Het
Lrrc4 T C 6: 28,831,292 (GRCm39) N108D probably damaging Het
Ltbp2 T A 12: 84,841,847 (GRCm39) E944V probably damaging Het
Magi1 C T 6: 93,685,158 (GRCm39) S740N probably damaging Het
Med26 A G 8: 73,249,677 (GRCm39) I474T probably damaging Het
Mgst1 T A 6: 138,124,770 (GRCm39) M68K probably damaging Het
Myh7 G A 14: 55,229,770 (GRCm39) A91V possibly damaging Het
Nhlrc2 G A 19: 56,580,216 (GRCm39) V450I probably benign Het
Nup160 T G 2: 90,530,800 (GRCm39) F486C probably damaging Het
Nup50l T C 6: 96,141,953 (GRCm39) T364A probably benign Het
Obscn A T 11: 58,994,152 (GRCm39) Y1602N probably damaging Het
Or52ae9 T A 7: 103,389,707 (GRCm39) T247S probably damaging Het
Or5ak4 C A 2: 85,162,142 (GRCm39) M33I probably benign Het
Otogl A T 10: 107,689,164 (GRCm39) Y955* probably null Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pianp T C 6: 124,976,347 (GRCm39) V52A probably benign Het
Plekhh2 T C 17: 84,899,013 (GRCm39) Y997H probably damaging Het
Plekhm1 G T 11: 103,278,069 (GRCm39) S342R possibly damaging Het
Poglut2 C T 1: 44,149,894 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,551,996 (GRCm39) V81E probably damaging Het
Pramel52-ps A G 5: 94,529,268 (GRCm39) T13A probably benign Het
Ptafr A G 4: 132,306,657 (GRCm39) T16A probably benign Het
Ptpn23 A T 9: 110,218,855 (GRCm39) L445Q probably damaging Het
Rasa1 A T 13: 85,374,717 (GRCm39) F751L possibly damaging Het
Sap18 A C 14: 58,039,474 (GRCm39) D153A probably damaging Het
Slc38a11 C T 2: 65,194,235 (GRCm39) G10D probably benign Het
Snx32 T C 19: 5,560,372 (GRCm39) N10D probably benign Het
Sox6 T C 7: 115,261,677 (GRCm39) T180A probably damaging Het
Srrt T C 5: 137,301,192 (GRCm39) K78R probably damaging Het
Syce3 T C 15: 89,281,567 (GRCm39) D24G probably damaging Het
Taok3 T A 5: 117,344,732 (GRCm39) I153N probably damaging Het
Tesk1 A G 4: 43,445,991 (GRCm39) Q308R probably benign Het
Tm7sf3 A T 6: 146,511,471 (GRCm39) probably null Het
Tmbim6 T C 15: 99,300,034 (GRCm39) V50A probably benign Het
Tmem107 T C 11: 68,961,837 (GRCm39) V22A probably damaging Het
Ttc12 T C 9: 49,364,646 (GRCm39) I377V probably benign Het
Ufl1 T A 4: 25,262,316 (GRCm39) N310I probably damaging Het
Ush2a C A 1: 188,175,416 (GRCm39) N1171K possibly damaging Het
Utrn A T 10: 12,574,831 (GRCm39) V1032E probably benign 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
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
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'- CCTGAATTTAGACTTTGGGCAAC -3'
(R):5'- AGGACTTCTTCTTGGAGCCC -3'

Sequencing Primer
(F):5'- AGCGAAGGTTCTTGGAAC -3'
(R):5'- TAGTCTTTGGAAGGGCACTCTGAAAC -3'
Posted On 2018-08-01