Incidental Mutation 'R5172:Snd1'
ID |
478124 |
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 |
042752-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R5172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 28886615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 874
(V874G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000167201]
|
AlphaFold |
Q78PY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001460
AA Change: V874G
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001460 Gene: ENSMUSG00000001424 AA Change: V874G
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 |
noncoding transcript
Transcript: ENSMUST00000165151
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167201
|
SMART Domains |
Protein: ENSMUSP00000128737 Gene: ENSMUSG00000001424
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
Het |
Zc3h18 |
T |
G |
8: 123,134,159 (GRCm39) |
|
probably benign |
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 |
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 |
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'- GTGCGGGACATCCAAAACAC -3'
(R):5'- CAAACCCGCAGTCAATTAATTTGTG -3'
Sequencing Primer
(F):5'- ACTCAGTGCCTGCTCAACG -3'
(R):5'- TTTTAAAAACCCAACAAACCCAAATC -3'
|
Posted On |
2017-05-25 |