Incidental Mutation 'IGL01340:Snd1'
ID 74793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snd1
Ensembl Gene ENSMUSG00000001424
Gene Name staphylococcal nuclease and tudor domain containing 1
Synonyms Tudor-SN, p100 co-activator
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # IGL01340
Quality Score
Status
Chromosome 6
Chromosomal Location 28480332-28935161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28883368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 741 (V741E)
Ref Sequence ENSEMBL: ENSMUSP00000001460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000167201]
AlphaFold Q78PY7
Predicted Effect probably benign
Transcript: ENSMUST00000001460
AA Change: V741E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: V741E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 166 7.12e-54 SMART
SNc 193 328 8.37e-51 SMART
SNc 341 496 4.11e-59 SMART
SNc 525 660 3.82e-45 SMART
TUDOR 728 785 4.8e-19 SMART
Pfam:SNase 835 895 1.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166136
Predicted Effect probably benign
Transcript: ENSMUST00000167201
SMART Domains Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 166 7.12e-54 SMART
SNc 193 328 8.37e-51 SMART
SNc 341 496 4.11e-59 SMART
SCOP:d1sty__ 526 592 1e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169579
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 transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cxcl1 G T 5: 91,039,434 (GRCm39) C59F probably damaging Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Drosha T A 15: 12,834,109 (GRCm39) probably benign Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Lmf2 A G 15: 89,237,075 (GRCm39) F413S probably damaging Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snx6 C T 12: 54,801,094 (GRCm39) R185Q probably damaging Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G possibly damaging Het
Other mutations in Snd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Snd1 APN 6 28,512,985 (GRCm39) critical splice donor site probably null
IGL00940:Snd1 APN 6 28,745,174 (GRCm39) intron probably benign
IGL01892:Snd1 APN 6 28,888,123 (GRCm39) critical splice donor site probably null
IGL02063:Snd1 APN 6 28,526,220 (GRCm39) unclassified probably benign
IGL02134:Snd1 APN 6 28,880,278 (GRCm39) missense possibly damaging 0.81
IGL02366:Snd1 APN 6 28,707,149 (GRCm39) intron probably benign
PIT4677001:Snd1 UTSW 6 28,880,295 (GRCm39) missense probably benign 0.01
R0039:Snd1 UTSW 6 28,745,209 (GRCm39) missense probably damaging 1.00
R0053:Snd1 UTSW 6 28,745,334 (GRCm39) intron probably benign
R0053:Snd1 UTSW 6 28,745,334 (GRCm39) intron probably benign
R0463:Snd1 UTSW 6 28,724,955 (GRCm39) missense probably benign 0.00
R0576:Snd1 UTSW 6 28,886,576 (GRCm39) missense probably benign 0.31
R0709:Snd1 UTSW 6 28,545,469 (GRCm39) splice site probably benign
R0959:Snd1 UTSW 6 28,884,970 (GRCm39) missense probably benign 0.01
R1698:Snd1 UTSW 6 28,888,252 (GRCm39) nonsense probably null
R1853:Snd1 UTSW 6 28,545,563 (GRCm39) missense probably damaging 1.00
R2059:Snd1 UTSW 6 28,745,206 (GRCm39) missense probably damaging 1.00
R2497:Snd1 UTSW 6 28,888,078 (GRCm39) missense probably benign
R3832:Snd1 UTSW 6 28,531,403 (GRCm39) splice site probably benign
R3833:Snd1 UTSW 6 28,531,403 (GRCm39) splice site probably benign
R4643:Snd1 UTSW 6 28,880,248 (GRCm39) missense probably benign 0.00
R4665:Snd1 UTSW 6 28,707,053 (GRCm39) missense probably damaging 1.00
R4843:Snd1 UTSW 6 28,668,642 (GRCm39) missense probably damaging 1.00
R4884:Snd1 UTSW 6 28,526,911 (GRCm39) missense possibly damaging 0.94
R4959:Snd1 UTSW 6 28,884,250 (GRCm39) nonsense probably null
R4973:Snd1 UTSW 6 28,884,250 (GRCm39) nonsense probably null
R5065:Snd1 UTSW 6 28,888,239 (GRCm39) missense probably damaging 1.00
R5066:Snd1 UTSW 6 28,888,239 (GRCm39) missense probably damaging 1.00
R5067:Snd1 UTSW 6 28,888,239 (GRCm39) missense probably damaging 1.00
R5131:Snd1 UTSW 6 28,885,049 (GRCm39) missense probably damaging 0.99
R5172:Snd1 UTSW 6 28,886,615 (GRCm39) missense possibly damaging 0.91
R5239:Snd1 UTSW 6 28,545,524 (GRCm39) missense probably damaging 1.00
R5313:Snd1 UTSW 6 28,668,600 (GRCm39) missense probably benign 0.15
R5395:Snd1 UTSW 6 28,526,183 (GRCm39) missense probably damaging 0.99
R5938:Snd1 UTSW 6 28,874,858 (GRCm39) critical splice acceptor site probably null
R6019:Snd1 UTSW 6 28,880,233 (GRCm39) missense probably benign 0.00
R6248:Snd1 UTSW 6 28,520,234 (GRCm39) nonsense probably null
R6337:Snd1 UTSW 6 28,888,288 (GRCm39) missense probably damaging 1.00
R6810:Snd1 UTSW 6 28,668,609 (GRCm39) missense probably benign 0.23
R6932:Snd1 UTSW 6 28,626,100 (GRCm39) missense probably benign 0.42
R7469:Snd1 UTSW 6 28,626,126 (GRCm39) missense probably damaging 1.00
R7485:Snd1 UTSW 6 28,531,449 (GRCm39) missense probably benign 0.14
R7571:Snd1 UTSW 6 28,526,202 (GRCm39) missense possibly damaging 0.81
R7866:Snd1 UTSW 6 28,527,724 (GRCm39) missense probably damaging 1.00
R8178:Snd1 UTSW 6 28,874,975 (GRCm39) missense possibly damaging 0.85
R8208:Snd1 UTSW 6 28,526,054 (GRCm39) missense possibly damaging 0.86
R8526:Snd1 UTSW 6 28,745,253 (GRCm39) missense probably benign 0.00
R8848:Snd1 UTSW 6 28,874,962 (GRCm39) missense possibly damaging 0.72
R8854:Snd1 UTSW 6 28,526,968 (GRCm39) missense probably benign 0.02
R9310:Snd1 UTSW 6 28,795,936 (GRCm39) missense probably null 1.00
R9326:Snd1 UTSW 6 28,795,842 (GRCm39) nonsense probably null
R9348:Snd1 UTSW 6 28,745,206 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07