Incidental Mutation 'R0039:Snd1'
ID |
15636 |
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 |
MMRRC Submission |
038333-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R0039 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28745209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 518
(L518Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000171353]
|
AlphaFold |
Q78PY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001460
AA Change: L518Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001460 Gene: ENSMUSG00000001424 AA Change: L518Q
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
SNc
|
18 |
142 |
1.56e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167201
AA Change: L518Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128737 Gene: ENSMUSG00000001424 AA Change: L518Q
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9008 |
Coding Region Coverage |
- 1x: 82.5%
- 3x: 74.4%
- 10x: 54.3%
- 20x: 37.4%
|
Validation Efficiency |
95% (60/63) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
C |
T |
12: 52,565,518 (GRCm39) |
Q830* |
probably null |
Het |
Atic |
A |
T |
1: 71,617,009 (GRCm39) |
E523V |
possibly damaging |
Het |
Cass4 |
T |
A |
2: 172,268,900 (GRCm39) |
F329L |
probably damaging |
Het |
Cdk17 |
A |
T |
10: 93,062,640 (GRCm39) |
|
probably benign |
Het |
Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
Cep170 |
A |
C |
1: 176,610,061 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,654,541 (GRCm39) |
K82E |
probably benign |
Het |
Dtd1 |
C |
T |
2: 144,588,896 (GRCm39) |
R185W |
probably damaging |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Hectd1 |
T |
G |
12: 51,800,608 (GRCm39) |
E2070A |
possibly damaging |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,846 (GRCm39) |
K257* |
probably null |
Het |
Ighv8-5 |
T |
A |
12: 115,031,207 (GRCm39) |
T111S |
possibly damaging |
Het |
Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,592,416 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
Myh2 |
T |
A |
11: 67,069,103 (GRCm39) |
L304Q |
probably damaging |
Het |
Prune1 |
T |
A |
3: 95,169,678 (GRCm39) |
T175S |
probably damaging |
Het |
Rdh10 |
C |
T |
1: 16,199,508 (GRCm39) |
T238I |
probably damaging |
Het |
Rlf |
T |
A |
4: 121,004,039 (GRCm39) |
H1647L |
possibly damaging |
Het |
Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,392,788 (GRCm39) |
M268K |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,313,926 (GRCm39) |
V1893A |
probably benign |
Het |
Stat1 |
T |
A |
1: 52,179,819 (GRCm39) |
V343D |
probably damaging |
Het |
Topors |
A |
G |
4: 40,262,772 (GRCm39) |
S171P |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,440,221 (GRCm39) |
Q82* |
probably null |
Het |
Unc13c |
A |
G |
9: 73,576,847 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
G |
T |
17: 71,960,487 (GRCm39) |
G590* |
probably null |
Het |
|
Other mutations in Snd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
PIT4677001:Snd1
|
UTSW |
6 |
28,880,295 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2012-12-21 |