Incidental Mutation 'IGL02134:Snd1'
ID281224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snd1
Ensembl Gene ENSMUSG00000001424
Gene Namestaphylococcal nuclease and tudor domain containing 1
Synonymsp100 co-activator, Tudor-SN
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL02134
Quality Score
Status
Chromosome6
Chromosomal Location28475139-28935162 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 28880279 bp
ZygosityHeterozygous
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]
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: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Snd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Snd1 APN 6 28512986 critical splice donor site probably null
IGL00940:Snd1 APN 6 28745175 intron probably benign
IGL01340:Snd1 APN 6 28883369 missense probably benign
IGL01892:Snd1 APN 6 28888124 critical splice donor site probably null
IGL02063:Snd1 APN 6 28526221 unclassified probably benign
IGL02366:Snd1 APN 6 28707150 intron probably benign
PIT4677001:Snd1 UTSW 6 28880296 missense probably benign 0.01
R0039:Snd1 UTSW 6 28745210 missense probably damaging 1.00
R0053:Snd1 UTSW 6 28745335 intron probably benign
R0053:Snd1 UTSW 6 28745335 intron probably benign
R0463:Snd1 UTSW 6 28724956 missense probably benign 0.00
R0576:Snd1 UTSW 6 28886577 missense probably benign 0.31
R0709:Snd1 UTSW 6 28545470 splice site probably benign
R0959:Snd1 UTSW 6 28884971 missense probably benign 0.01
R1698:Snd1 UTSW 6 28888253 nonsense probably null
R1853:Snd1 UTSW 6 28545564 missense probably damaging 1.00
R2059:Snd1 UTSW 6 28745207 missense probably damaging 1.00
R2497:Snd1 UTSW 6 28888079 missense probably benign
R3832:Snd1 UTSW 6 28531404 splice site probably benign
R3833:Snd1 UTSW 6 28531404 splice site probably benign
R4643:Snd1 UTSW 6 28880249 missense probably benign 0.00
R4665:Snd1 UTSW 6 28707054 missense probably damaging 1.00
R4843:Snd1 UTSW 6 28668643 missense probably damaging 1.00
R4884:Snd1 UTSW 6 28526912 missense possibly damaging 0.94
R4959:Snd1 UTSW 6 28884251 nonsense probably null
R4973:Snd1 UTSW 6 28884251 nonsense probably null
R5065:Snd1 UTSW 6 28888240 missense probably damaging 1.00
R5066:Snd1 UTSW 6 28888240 missense probably damaging 1.00
R5067:Snd1 UTSW 6 28888240 missense probably damaging 1.00
R5131:Snd1 UTSW 6 28885050 missense probably damaging 0.99
R5172:Snd1 UTSW 6 28886616 missense possibly damaging 0.91
R5239:Snd1 UTSW 6 28545525 missense probably damaging 1.00
R5313:Snd1 UTSW 6 28668601 missense probably benign 0.15
R5395:Snd1 UTSW 6 28526184 missense probably damaging 0.99
R5938:Snd1 UTSW 6 28874859 critical splice acceptor site probably null
R6019:Snd1 UTSW 6 28880234 missense probably benign 0.00
R6248:Snd1 UTSW 6 28520235 nonsense probably null
R6337:Snd1 UTSW 6 28888289 missense probably damaging 1.00
R6810:Snd1 UTSW 6 28668610 missense probably benign 0.23
R6932:Snd1 UTSW 6 28626101 missense probably benign 0.42
R7469:Snd1 UTSW 6 28626127 missense probably damaging 1.00
R7485:Snd1 UTSW 6 28531450 missense probably benign 0.14
R7571:Snd1 UTSW 6 28526203 missense possibly damaging 0.81
R7866:Snd1 UTSW 6 28527725 missense probably damaging 1.00
R8178:Snd1 UTSW 6 28874976 missense possibly damaging 0.85
R8208:Snd1 UTSW 6 28526055 missense possibly damaging 0.86
Posted On2015-04-16