Incidental Mutation 'PIT4677001:Snd1'
ID 556551
Institutional Source Beutler Lab
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 # PIT4677001 (G1)
Quality Score 162.009
Status Not validated
Chromosome 6
Chromosomal Location 28480332-28935161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28880295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 690 (I690V)
Ref Sequence ENSEMBL: ENSMUSP00000001460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201]
AlphaFold Q78PY7
Predicted Effect probably benign
Transcript: ENSMUST00000001460
AA Change: I690V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: I690V

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
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
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 71.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T A 2: 127,028,933 (GRCm39) T89S probably benign Het
4921517D22Rik A T 13: 59,838,305 (GRCm39) F176I probably benign Het
Acsm3 A G 7: 119,374,340 (GRCm39) D264G probably damaging Het
Adamts12 T A 15: 11,286,896 (GRCm39) F834I probably benign Het
Arhgap45 A T 10: 79,856,583 (GRCm39) M171L probably benign Het
Arid5b A T 10: 67,933,841 (GRCm39) M687K probably damaging Het
AU040320 A T 4: 126,686,030 (GRCm39) Q202L probably benign Het
Ccdc47 A G 11: 106,099,034 (GRCm39) L219P probably damaging Het
Cfhr2 T G 1: 139,733,117 (GRCm39) S301R unknown Het
Cog2 T A 8: 125,272,010 (GRCm39) V508E probably benign Het
Cpb2 A G 14: 75,493,463 (GRCm39) T47A probably benign Het
Ddx60 A T 8: 62,425,288 (GRCm39) K692I possibly damaging Het
Defb34 A T 8: 19,176,412 (GRCm39) R34S possibly damaging Het
Fads2 A T 19: 10,047,694 (GRCm39) I275N probably damaging Het
Fmn2 T G 1: 174,474,699 (GRCm39) S1221A probably damaging Het
Fndc3a A T 14: 72,812,035 (GRCm39) V302E probably benign Het
Galntl6 C T 8: 58,310,621 (GRCm39) C360Y probably damaging Het
Gm16519 A T 17: 71,236,506 (GRCm39) I152F probably benign Het
Hnrnpr T A 4: 136,056,750 (GRCm39) V250D probably damaging Het
Hs3st6 A G 17: 24,977,285 (GRCm39) D255G possibly damaging Het
Ift70a1 A G 2: 75,810,113 (GRCm39) Y657H possibly damaging Het
Ino80 C T 2: 119,208,026 (GRCm39) V1422M probably benign Het
Insyn2b A T 11: 34,353,122 (GRCm39) N388I probably benign Het
Kcnu1 A G 8: 26,396,021 (GRCm39) I669V probably benign Het
Layn A T 9: 50,968,711 (GRCm39) V344E probably damaging Het
Mgll A T 6: 88,802,663 (GRCm39) R273W possibly damaging Het
Myh2 G A 11: 67,072,818 (GRCm39) S636N probably benign Het
Nmur2 A T 11: 55,923,835 (GRCm39) S240T probably benign Het
Pkd1 T G 17: 24,793,003 (GRCm39) S1563R possibly damaging Het
Ppp4r3b G A 11: 29,137,978 (GRCm39) V109I probably benign Het
Prdm2 A T 4: 142,861,648 (GRCm39) D547E probably damaging Het
Prss46 A T 9: 110,685,098 (GRCm39) M241L probably benign Het
Ptprf T A 4: 118,070,809 (GRCm39) I1397F probably damaging Het
Pus10 A T 11: 23,670,171 (GRCm39) T418S possibly damaging Het
Qsox2 T C 2: 26,112,320 (GRCm39) D74G probably damaging Het
Sctr T C 1: 119,989,634 (GRCm39) V383A probably damaging Het
Siglec1 T A 2: 130,914,677 (GRCm39) N1480Y probably damaging Het
Skint2 T C 4: 112,483,135 (GRCm39) I180T probably benign Het
Spire1 T C 18: 67,624,435 (GRCm39) T575A probably damaging Het
Srbd1 G A 17: 86,422,640 (GRCm39) R459* probably null Het
Tll2 C A 19: 41,118,997 (GRCm39) V244L probably benign Het
Tmem60 A G 5: 21,091,366 (GRCm39) I44V probably benign Het
Utrn T A 10: 12,542,448 (GRCm39) I1846F probably benign Het
Vinac1 T C 2: 128,880,636 (GRCm39) D430G Het
Vps8 T C 16: 21,319,084 (GRCm39) F641S 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
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
IGL02134:Snd1 APN 6 28,880,278 (GRCm39) missense possibly damaging 0.81
IGL02366:Snd1 APN 6 28,707,149 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- ATTTACCCAAAGCCCCTGG -3'
(R):5'- GTCTCAGAGAACCACCCAGATG -3'

Sequencing Primer
(F):5'- CCTGGTTGGGGGTCCTCAG -3'
(R):5'- TATAATGCCACCTGTCCTCAGAGG -3'
Posted On 2019-06-07