Incidental Mutation 'R1698:Snd1'
ID 192399
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 039731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R1698 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 28475139-28935162 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 28888253 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 896 (G896*)
Ref Sequence ENSEMBL: ENSMUSP00000001460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000167201]
AlphaFold Q78PY7
Predicted Effect probably null
Transcript: ENSMUST00000001460
AA Change: G896*
SMART Domains Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: G896*

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 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,645,158 (GRCm38) E340A possibly damaging Het
Abca13 A G 11: 9,314,507 (GRCm38) D2963G probably benign Het
Actn3 T C 19: 4,862,207 (GRCm38) D783G possibly damaging Het
Adamtsl2 A G 2: 27,103,127 (GRCm38) E723G possibly damaging Het
Agrn G T 4: 156,166,558 (GRCm38) Q1931K probably benign Het
Ankrd27 G A 7: 35,614,521 (GRCm38) A426T probably benign Het
Atg9b C A 5: 24,388,188 (GRCm38) G406C probably damaging Het
C1ra A T 6: 124,522,766 (GRCm38) Q637L probably benign Het
Cdhr2 A T 13: 54,719,581 (GRCm38) M438L probably benign Het
Cep350 T C 1: 155,953,358 (GRCm38) I267V possibly damaging Het
Chrna5 A G 9: 55,004,642 (GRCm38) Y138C probably damaging Het
Chst3 T A 10: 60,185,703 (GRCm38) M441L probably benign Het
Cmya5 G A 13: 93,063,519 (GRCm38) P3434S probably benign Het
Cog2 T A 8: 124,525,683 (GRCm38) L42Q probably damaging Het
Cpq A T 15: 33,250,126 (GRCm38) I210F probably benign Het
Crnn C A 3: 93,148,458 (GRCm38) Q184K probably damaging Het
Csnka2ip A T 16: 64,478,059 (GRCm38) Y647* probably null Het
D5Ertd579e C T 5: 36,604,530 (GRCm38) R1331H probably benign Het
Dennd5a C T 7: 109,917,380 (GRCm38) probably null Het
Dync1h1 A G 12: 110,626,992 (GRCm38) Q1231R possibly damaging Het
Erbin T A 13: 103,833,731 (GRCm38) I1126F possibly damaging Het
Fastkd1 T C 2: 69,702,469 (GRCm38) D518G probably benign Het
Gcc1 A G 6: 28,421,111 (GRCm38) L69P possibly damaging Het
Gkn1 T C 6: 87,347,169 (GRCm38) Y119C probably damaging Het
Gmpr T G 13: 45,517,044 (GRCm38) W81G probably benign Het
Gyg1 T A 3: 20,138,051 (GRCm38) I236F probably benign Het
Hcrtr2 T C 9: 76,246,453 (GRCm38) Y219C probably damaging Het
Hmcn1 G A 1: 150,565,369 (GRCm38) Q5379* probably null Het
Kank1 T C 19: 25,411,317 (GRCm38) C785R probably benign Het
Lrp1b A T 2: 40,851,806 (GRCm38) C3036* probably null Het
Mdga2 T C 12: 66,689,335 (GRCm38) D373G probably damaging Het
Mgat2 A T 12: 69,185,719 (GRCm38) I356F probably benign Het
Miga2 A G 2: 30,377,997 (GRCm38) D346G probably damaging Het
Mprip T A 11: 59,760,258 (GRCm38) L1596Q possibly damaging Het
Mroh2b G A 15: 4,914,140 (GRCm38) R386Q probably benign Het
Mst1r T A 9: 107,919,980 (GRCm38) S1349R probably benign Het
Mtmr3 C T 11: 4,492,825 (GRCm38) R403H possibly damaging Het
Mycbpap G A 11: 94,508,143 (GRCm38) Q460* probably null Het
Myo9a T C 9: 59,868,181 (GRCm38) V1025A probably benign Het
Ncapd2 C T 6: 125,168,590 (GRCm38) E1365K probably null Het
Nkiras2 C A 11: 100,625,163 (GRCm38) D105E probably damaging Het
Nolc1 T G 19: 46,081,431 (GRCm38) probably null Het
Nos1 T C 5: 117,867,232 (GRCm38) F6L probably benign Het
Olfr1369-ps1 C T 13: 21,116,565 (GRCm38) T291I probably benign Het
Or10j3 A T 1: 173,203,371 (GRCm38) N5I probably damaging Het
Or12e1 G T 2: 87,191,737 (GRCm38) V17L probably benign Het
Or2t46 T C 11: 58,581,251 (GRCm38) Y136H probably damaging Het
Or4f54 T A 2: 111,292,560 (GRCm38) C97* probably null Het
Or8b46 T A 9: 38,539,256 (GRCm38) Y120* probably null Het
Pfkm A G 15: 98,128,318 (GRCm38) E598G possibly damaging Het
Phf2 A T 13: 48,807,630 (GRCm38) D861E unknown Het
Polr2a A G 11: 69,739,877 (GRCm38) probably null Het
Popdc2 G A 16: 38,369,491 (GRCm38) V167M probably damaging Het
Ptpn22 T C 3: 103,885,798 (GRCm38) S422P probably benign Het
Rasa2 T C 9: 96,568,375 (GRCm38) K490R possibly damaging Het
Rbfox3 T A 11: 118,495,221 (GRCm38) D286V probably damaging Het
Rdh13 A G 7: 4,427,791 (GRCm38) W223R probably damaging Het
Riok3 T C 18: 12,128,929 (GRCm38) S7P probably benign Het
Rnaseh2b A G 14: 62,353,632 (GRCm38) E144G probably benign Het
Rnf20 C T 4: 49,651,498 (GRCm38) Q655* probably null Het
Rpap2 T C 5: 107,603,550 (GRCm38) Y8H probably damaging Het
Slc5a10 T C 11: 61,709,602 (GRCm38) Y181C probably benign Het
Spast C T 17: 74,356,160 (GRCm38) Q158* probably null Het
Tas2r104 G A 6: 131,685,584 (GRCm38) S54F probably damaging Het
Tcaf2 C T 6: 42,628,017 (GRCm38) W611* probably null Het
Thoc2l C T 5: 104,520,510 (GRCm38) A966V probably benign Het
Timp4 G A 6: 115,250,403 (GRCm38) probably null Het
Tmem45a G A 16: 56,823,570 (GRCm38) S72L probably benign Het
Tnrc18 T C 5: 142,788,703 (GRCm38) T124A possibly damaging Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Ttn T C 2: 76,942,915 (GRCm38) D2381G probably damaging Het
Uevld T C 7: 46,955,624 (GRCm38) T41A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Unc5d T C 8: 28,696,478 (GRCm38) E527G probably damaging Het
Vmn2r125 C T 4: 156,351,038 (GRCm38) T237I probably benign Het
Vmn2r63 A C 7: 42,933,614 (GRCm38) I59S probably benign Het
Vps72 G A 3: 95,118,695 (GRCm38) S106N probably benign Het
Zan A C 5: 137,409,669 (GRCm38) probably benign Het
Zbtb38 T C 9: 96,685,462 (GRCm38) K1190E probably benign Het
Zc3h6 T C 2: 129,017,358 (GRCm38) V1103A probably benign Het
Zfp407 G A 18: 84,562,157 (GRCm38) T277I probably damaging Het
Zfp804b A G 5: 6,769,509 (GRCm38) S1149P 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
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
R5313:Snd1 UTSW 6 28,668,601 (GRCm38) missense probably benign 0.15
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'- TTGCTCATTCAAGAGCACCTCCATC -3'
(R):5'- CTGTACACTGAAGCAAGCTAGACCC -3'

Sequencing Primer
(F):5'- TTATGTCCCTCAGATCACAGAATAC -3'
(R):5'- TGAAGCAAGCTAGACCCAATCTATAC -3'
Posted On 2014-05-14