Incidental Mutation 'R8848:Snd1'
ID |
674818 |
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 |
068671-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R8848 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28874962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 628
(S628T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
|
AlphaFold |
Q78PY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001460
AA Change: S628T
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000001460 Gene: ENSMUSG00000001424 AA Change: S628T
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 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
C |
9: 122,778,106 (GRCm39) |
D46G |
probably benign |
Het |
Abcc8 |
A |
T |
7: 45,766,769 (GRCm39) |
W1004R |
possibly damaging |
Het |
Acbd3 |
T |
A |
1: 180,562,084 (GRCm39) |
|
probably null |
Het |
Adh1 |
G |
T |
3: 137,986,262 (GRCm39) |
C83F |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,477,481 (GRCm39) |
V20A |
probably benign |
Het |
Bmal1 |
T |
C |
7: 112,905,327 (GRCm39) |
I506T |
possibly damaging |
Het |
Brf2 |
T |
C |
8: 27,616,140 (GRCm39) |
I82V |
probably benign |
Het |
C7 |
A |
G |
15: 5,088,911 (GRCm39) |
V10A |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,845,283 (GRCm39) |
V651M |
possibly damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,391,855 (GRCm39) |
I458T |
possibly damaging |
Het |
Cadps2 |
C |
A |
6: 23,344,256 (GRCm39) |
W897L |
probably damaging |
Het |
Cdhr1 |
T |
A |
14: 36,802,531 (GRCm39) |
N644I |
probably benign |
Het |
Cox7c |
A |
T |
13: 86,193,900 (GRCm39) |
I55K |
possibly damaging |
Het |
Cox8c |
T |
A |
12: 102,865,577 (GRCm39) |
|
probably benign |
Het |
Cyp2c40 |
G |
A |
19: 39,801,244 (GRCm39) |
R4C |
unknown |
Het |
Ehd3 |
A |
T |
17: 74,136,911 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
T |
5: 31,348,210 (GRCm39) |
C227S |
probably damaging |
Het |
Erlec1 |
T |
C |
11: 30,898,411 (GRCm39) |
Y213C |
probably damaging |
Het |
F11 |
G |
T |
8: 45,695,281 (GRCm39) |
Y562* |
probably null |
Het |
Fam186a |
A |
G |
15: 99,838,034 (GRCm39) |
S2737P |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,878,398 (GRCm39) |
E3361G |
probably damaging |
Het |
Fbxl7 |
T |
A |
15: 26,552,902 (GRCm39) |
M122L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
Gm12185 |
T |
A |
11: 48,806,280 (GRCm39) |
T304S |
possibly damaging |
Het |
Grin3b |
A |
T |
10: 79,809,667 (GRCm39) |
D391V |
probably benign |
Het |
Hao2 |
T |
A |
3: 98,784,528 (GRCm39) |
D279V |
probably damaging |
Het |
Il4i1 |
C |
A |
7: 44,489,175 (GRCm39) |
D313E |
probably damaging |
Het |
Kcnk7 |
T |
A |
19: 5,756,743 (GRCm39) |
L244Q |
probably damaging |
Het |
Lingo4 |
A |
T |
3: 94,310,840 (GRCm39) |
M593L |
probably benign |
Het |
Lix1 |
G |
A |
17: 17,663,955 (GRCm39) |
A98T |
probably damaging |
Het |
Lpo |
T |
A |
11: 87,708,603 (GRCm39) |
I132L |
probably benign |
Het |
Mymx |
A |
T |
17: 45,912,935 (GRCm39) |
|
probably null |
Het |
Nms |
T |
C |
1: 38,978,391 (GRCm39) |
S9P |
probably benign |
Het |
Nom1 |
A |
G |
5: 29,645,137 (GRCm39) |
D535G |
probably damaging |
Het |
Or2t43 |
T |
A |
11: 58,457,902 (GRCm39) |
I90F |
probably damaging |
Het |
Or5p81 |
T |
A |
7: 108,266,929 (GRCm39) |
I102N |
probably benign |
Het |
Or8k25 |
T |
C |
2: 86,243,821 (GRCm39) |
T192A |
probably benign |
Het |
Pgbd1 |
A |
G |
13: 21,607,052 (GRCm39) |
C381R |
probably damaging |
Het |
Pkp1 |
T |
C |
1: 135,807,652 (GRCm39) |
S539G |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,971,446 (GRCm39) |
R66L |
probably benign |
Het |
Polr3a |
A |
T |
14: 24,500,834 (GRCm39) |
L1318Q |
probably damaging |
Het |
Ppara |
T |
A |
15: 85,673,188 (GRCm39) |
F126L |
possibly damaging |
Het |
Rab11a |
T |
C |
9: 64,624,264 (GRCm39) |
Y173C |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,722,705 (GRCm39) |
M2566K |
probably damaging |
Het |
Rwdd1 |
A |
G |
10: 33,884,987 (GRCm39) |
|
probably null |
Het |
Scn7a |
G |
A |
2: 66,530,393 (GRCm39) |
R651* |
probably null |
Het |
Slc15a4 |
T |
G |
5: 127,679,021 (GRCm39) |
I440L |
probably benign |
Het |
Slc28a2 |
A |
G |
2: 122,290,902 (GRCm39) |
T623A |
probably benign |
Het |
Speg |
T |
C |
1: 75,404,082 (GRCm39) |
|
probably null |
Het |
Spta1 |
G |
A |
1: 174,025,310 (GRCm39) |
R725K |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,288,528 (GRCm39) |
E185G |
probably null |
Het |
Svop |
G |
T |
5: 114,183,687 (GRCm39) |
T195K |
|
Het |
Tbc1d5 |
A |
T |
17: 51,226,082 (GRCm39) |
F254I |
probably damaging |
Het |
Ulk3 |
T |
C |
9: 57,496,890 (GRCm39) |
L8P |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,433,263 (GRCm39) |
I1973V |
probably benign |
Het |
Upb1 |
T |
A |
10: 75,264,178 (GRCm39) |
|
probably null |
Het |
Usp53 |
C |
T |
3: 122,742,825 (GRCm39) |
G704S |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,743,235 (GRCm39) |
D567G |
probably benign |
Het |
Vmn1r72 |
T |
A |
7: 11,404,269 (GRCm39) |
I60F |
probably damaging |
Het |
Vmn2r34 |
C |
T |
7: 7,675,307 (GRCm39) |
V694I |
probably benign |
Het |
Vmn2r60 |
T |
C |
7: 41,786,169 (GRCm39) |
F324S |
probably damaging |
Het |
Vps37d |
A |
G |
5: 135,102,519 (GRCm39) |
S238P |
probably damaging |
Het |
Zfp407 |
T |
A |
18: 84,578,819 (GRCm39) |
I765F |
probably damaging |
Het |
Zfp455 |
A |
G |
13: 67,356,089 (GRCm39) |
I387M |
possibly damaging |
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 |
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 |
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'- GGTACCATTCTCAAGCCTTGAAC -3'
(R):5'- CACTGAAGGTCTGTGTCTGG -3'
Sequencing Primer
(F):5'- TGAACTTGCAGAACTGTGCC -3'
(R):5'- CTGGCTTAGGATCAAAGGTGCC -3'
|
Posted On |
2021-07-15 |