Incidental Mutation 'IGL02134:Snd1'
ID 281224
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 # IGL02134
Quality Score
Status
Chromosome 6
Chromosomal Location 28480332-28935161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28880278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 684 (P684L)
Ref Sequence ENSEMBL: ENSMUSP00000001460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201]
AlphaFold Q78PY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000001460
AA Change: P684L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: P684L

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 probably benign
Transcript: ENSMUST00000164915
SMART Domains Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SNc 18 142 1.56e-18 SMART
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,980,581 (GRCm39) N168S probably damaging Het
Angptl3 A T 4: 98,919,349 (GRCm39) R36S probably damaging Het
Ap5z1 T C 5: 142,460,214 (GRCm39) F514L probably benign Het
Arhgef39 C A 4: 43,497,578 (GRCm39) probably null Het
Aste1 A G 9: 105,275,043 (GRCm39) S11G probably damaging Het
Cadm4 T C 7: 24,198,986 (GRCm39) V87A probably benign Het
Cd177 A G 7: 24,451,777 (GRCm39) I413T probably benign Het
Col5a2 A G 1: 45,430,230 (GRCm39) probably null Het
Dera C T 6: 137,807,269 (GRCm39) A239V probably damaging Het
Ecm1 T C 3: 95,643,499 (GRCm39) E283G probably damaging Het
Eml6 G T 11: 29,709,066 (GRCm39) H24N probably benign Het
Etl4 A G 2: 20,811,240 (GRCm39) K1425E possibly damaging Het
Fgd3 G A 13: 49,450,225 (GRCm39) S8L possibly damaging Het
Gli1 T C 10: 127,172,369 (GRCm39) E228G probably benign Het
Hivep3 A G 4: 119,990,771 (GRCm39) probably benign Het
Iqcc A G 4: 129,512,818 (GRCm39) S11P probably damaging Het
Itpkc G A 7: 26,927,300 (GRCm39) Q205* probably null Het
Jmjd1c T A 10: 67,056,171 (GRCm39) S530R possibly damaging Het
Kcnq1 A G 7: 142,737,453 (GRCm39) H257R possibly damaging Het
Kcnt2 G A 1: 140,304,121 (GRCm39) V164I probably benign Het
Lgr5 T C 10: 115,288,763 (GRCm39) H603R possibly damaging Het
Lrp2 T C 2: 69,343,723 (GRCm39) probably null Het
Lrrn2 A G 1: 132,865,555 (GRCm39) M207V possibly damaging Het
Miip A G 4: 147,949,735 (GRCm39) probably benign Het
Mrps35 T C 6: 146,949,808 (GRCm39) probably benign Het
Nuf2 A T 1: 169,341,069 (GRCm39) M184K probably benign Het
Or10q1 C A 19: 13,727,165 (GRCm39) R232S probably benign Het
Or14j2 C T 17: 37,886,249 (GRCm39) E22K probably benign Het
Or2f2 A G 6: 42,767,398 (GRCm39) T142A probably benign Het
Or4a15 A T 2: 89,193,172 (GRCm39) N200K probably damaging Het
Or8g32 A T 9: 39,305,830 (GRCm39) I248F probably damaging Het
Os9 T C 10: 126,956,861 (GRCm39) I42V possibly damaging Het
Rapgef4 A C 2: 72,010,405 (GRCm39) Q177P probably damaging Het
Rhpn2 T C 7: 35,070,536 (GRCm39) probably benign Het
Scn5a T C 9: 119,314,958 (GRCm39) R1916G probably damaging Het
Serpine1 T A 5: 137,095,889 (GRCm39) probably benign Het
Tgds T C 14: 118,350,534 (GRCm39) N340D probably benign Het
Trpc4 A T 3: 54,223,075 (GRCm39) Y706F possibly damaging Het
Ttn T A 2: 76,584,166 (GRCm39) D22314V probably damaging Het
Utrn G A 10: 12,519,163 (GRCm39) T2263I probably damaging Het
Vmn1r11 A T 6: 57,115,022 (GRCm39) T229S possibly damaging Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Zfp219 A G 14: 52,246,758 (GRCm39) L78P probably damaging Het
Zfp629 T A 7: 127,211,042 (GRCm39) T256S probably benign 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
IGL01340:Snd1 APN 6 28,883,368 (GRCm39) missense 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
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 2015-04-16