Incidental Mutation 'R5313:Snd1'
ID 405694
Institutional Source Beutler Lab
Gene Symbol Snd1
Ensembl Gene ENSMUSG00000001424
Gene Name staphylococcal nuclease and tudor domain containing 1
Synonyms p100 co-activator, Tudor-SN
MMRRC Submission 042896-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R5313 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 28475139-28935162 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28668601 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 429 (T429K)
Ref Sequence ENSEMBL: ENSMUSP00000128737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000171353]
AlphaFold Q78PY7
Predicted Effect probably benign
Transcript: ENSMUST00000001460
AA Change: T429K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: T429K

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 probably benign
Transcript: ENSMUST00000167201
AA Change: T429K

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
AA Change: T429K

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 probably benign
Transcript: ENSMUST00000171353
SMART Domains Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939

DomainStartEndE-ValueType
low complexity region 29 39 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171532
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,709,268 (GRCm38) E1027K probably damaging Het
9130011E15Rik G A 19: 45,818,975 (GRCm38) R661W probably damaging Het
Adam19 T C 11: 46,131,776 (GRCm38) C519R probably damaging Het
Adgra3 A T 5: 49,961,309 (GRCm38) S966T probably benign Het
Adgrl2 A G 3: 148,823,713 (GRCm38) Y1115H probably damaging Het
Adgrl3 A T 5: 81,726,669 (GRCm38) I938F probably damaging Het
Arhgef17 A C 7: 100,928,924 (GRCm38) L939W probably damaging Het
Arhgef18 A G 8: 3,451,629 (GRCm38) probably null Het
Cacna1d A C 14: 30,346,841 (GRCm38) I147S probably benign Het
Cdc42bpa T G 1: 180,084,433 (GRCm38) D525E probably benign Het
Cdh6 T A 15: 13,034,637 (GRCm38) I646F probably damaging Het
Col6a5 T G 9: 105,945,544 (GRCm38) I205L unknown Het
Cpox T A 16: 58,677,948 (GRCm38) Y381* probably null Het
Ctsc T C 7: 88,309,553 (GRCm38) V347A probably damaging Het
Ephb6 A T 6: 41,616,793 (GRCm38) T537S possibly damaging Het
Fam135a T C 1: 24,028,585 (GRCm38) I168V possibly damaging Het
Fam234b T A 6: 135,209,187 (GRCm38) D64E possibly damaging Het
Fgfr2 A T 7: 130,241,240 (GRCm38) D157E probably benign Het
Fstl5 A T 3: 76,593,505 (GRCm38) I414F possibly damaging Het
Glp2r T C 11: 67,757,531 (GRCm38) D115G probably damaging Het
Gpr85 A T 6: 13,836,302 (GRCm38) V201D probably damaging Het
Ido1 A C 8: 24,587,778 (GRCm38) I91S probably damaging Het
Ism2 G A 12: 87,279,762 (GRCm38) P468S probably damaging Het
Map2 A G 1: 66,425,379 (GRCm38) K1643E probably damaging Het
Olfr1228 C T 2: 89,249,377 (GRCm38) E106K probably benign Het
Olfr1329 A G 4: 118,916,798 (GRCm38) V223A probably benign Het
Olfr1466 G A 19: 13,342,065 (GRCm38) M102I probably benign Het
Olfr791 C T 10: 129,527,081 (GRCm38) P285S probably damaging Het
Ppargc1a A G 5: 51,458,239 (GRCm38) probably benign Het
Prpf4b T C 13: 34,894,549 (GRCm38) V714A probably damaging Het
Sept8 C T 11: 53,535,982 (GRCm38) T190I probably damaging Het
Slc18a2 A G 19: 59,293,843 (GRCm38) K494R probably benign Het
Slc34a2 A T 5: 53,069,339 (GRCm38) K542N probably damaging Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Timm10b T C 7: 105,641,080 (GRCm38) L60P probably damaging Het
Tmprss11a A T 5: 86,411,815 (GRCm38) Y373N probably damaging Het
Usp17la T A 7: 104,861,250 (GRCm38) V354D probably benign Het
Zbtb7b G T 3: 89,381,319 (GRCm38) T64K probably damaging Het
Other mutations in Snd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Snd1 APN 6 28,512,986 (GRCm38) critical splice donor site probably null
IGL00940:Snd1 APN 6 28,745,175 (GRCm38) intron probably benign
IGL01340:Snd1 APN 6 28,883,369 (GRCm38) missense probably benign
IGL01892:Snd1 APN 6 28,888,124 (GRCm38) critical splice donor site probably null
IGL02063:Snd1 APN 6 28,526,221 (GRCm38) unclassified probably benign
IGL02134:Snd1 APN 6 28,880,279 (GRCm38) missense possibly damaging 0.81
IGL02366:Snd1 APN 6 28,707,150 (GRCm38) intron probably benign
PIT4677001:Snd1 UTSW 6 28,880,296 (GRCm38) missense probably benign 0.01
R0039:Snd1 UTSW 6 28,745,210 (GRCm38) missense probably damaging 1.00
R0053:Snd1 UTSW 6 28,745,335 (GRCm38) intron probably benign
R0053:Snd1 UTSW 6 28,745,335 (GRCm38) intron probably benign
R0463:Snd1 UTSW 6 28,724,956 (GRCm38) missense probably benign 0.00
R0576:Snd1 UTSW 6 28,886,577 (GRCm38) missense probably benign 0.31
R0709:Snd1 UTSW 6 28,545,470 (GRCm38) splice site probably benign
R0959:Snd1 UTSW 6 28,884,971 (GRCm38) missense probably benign 0.01
R1698:Snd1 UTSW 6 28,888,253 (GRCm38) nonsense probably null
R1853:Snd1 UTSW 6 28,545,564 (GRCm38) missense probably damaging 1.00
R2059:Snd1 UTSW 6 28,745,207 (GRCm38) missense probably damaging 1.00
R2497:Snd1 UTSW 6 28,888,079 (GRCm38) missense probably benign
R3832:Snd1 UTSW 6 28,531,404 (GRCm38) splice site probably benign
R3833:Snd1 UTSW 6 28,531,404 (GRCm38) splice site probably benign
R4643:Snd1 UTSW 6 28,880,249 (GRCm38) missense probably benign 0.00
R4665:Snd1 UTSW 6 28,707,054 (GRCm38) missense probably damaging 1.00
R4843:Snd1 UTSW 6 28,668,643 (GRCm38) missense probably damaging 1.00
R4884:Snd1 UTSW 6 28,526,912 (GRCm38) missense possibly damaging 0.94
R4959:Snd1 UTSW 6 28,884,251 (GRCm38) nonsense probably null
R4973:Snd1 UTSW 6 28,884,251 (GRCm38) nonsense probably null
R5065:Snd1 UTSW 6 28,888,240 (GRCm38) missense probably damaging 1.00
R5066:Snd1 UTSW 6 28,888,240 (GRCm38) missense probably damaging 1.00
R5067:Snd1 UTSW 6 28,888,240 (GRCm38) missense probably damaging 1.00
R5131:Snd1 UTSW 6 28,885,050 (GRCm38) missense probably damaging 0.99
R5172:Snd1 UTSW 6 28,886,616 (GRCm38) missense possibly damaging 0.91
R5239:Snd1 UTSW 6 28,545,525 (GRCm38) missense probably damaging 1.00
R5395:Snd1 UTSW 6 28,526,184 (GRCm38) missense probably damaging 0.99
R5938:Snd1 UTSW 6 28,874,859 (GRCm38) critical splice acceptor site probably null
R6019:Snd1 UTSW 6 28,880,234 (GRCm38) missense probably benign 0.00
R6248:Snd1 UTSW 6 28,520,235 (GRCm38) nonsense probably null
R6337:Snd1 UTSW 6 28,888,289 (GRCm38) missense probably damaging 1.00
R6810:Snd1 UTSW 6 28,668,610 (GRCm38) missense probably benign 0.23
R6932:Snd1 UTSW 6 28,626,101 (GRCm38) missense probably benign 0.42
R7469:Snd1 UTSW 6 28,626,127 (GRCm38) missense probably damaging 1.00
R7485:Snd1 UTSW 6 28,531,450 (GRCm38) missense probably benign 0.14
R7571:Snd1 UTSW 6 28,526,203 (GRCm38) missense possibly damaging 0.81
R7866:Snd1 UTSW 6 28,527,725 (GRCm38) missense probably damaging 1.00
R8178:Snd1 UTSW 6 28,874,976 (GRCm38) missense possibly damaging 0.85
R8208:Snd1 UTSW 6 28,526,055 (GRCm38) missense possibly damaging 0.86
R8526:Snd1 UTSW 6 28,745,254 (GRCm38) missense probably benign 0.00
R8848:Snd1 UTSW 6 28,874,963 (GRCm38) missense possibly damaging 0.72
R8854:Snd1 UTSW 6 28,526,969 (GRCm38) missense probably benign 0.02
R9310:Snd1 UTSW 6 28,795,937 (GRCm38) missense probably null 1.00
R9326:Snd1 UTSW 6 28,795,843 (GRCm38) nonsense probably null
R9348:Snd1 UTSW 6 28,745,207 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTGCTGTCCTTTATCCAATG -3'
(R):5'- TAGTCCACTGGGTTAAGGACAAGAG -3'

Sequencing Primer
(F):5'- AATGCCTTTTGGAGATCTTTCTGC -3'
(R):5'- CACTGGGTTAAGGACAAGAGAGAGC -3'
Posted On 2016-07-22