Incidental Mutation 'R5131:Snd1'
| ID |
394998 |
| 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 |
042719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5131 (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 C
at 28885049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 800
(F800S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001460
AA Change: F800S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: F800S
| 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 |
noncoding transcript
Transcript: ENSMUST00000166136
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169579
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,168,890 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
| Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
| Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
T |
A |
1: 63,222,840 (GRCm39) |
S132C |
probably damaging |
Het |
| Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
| Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,426,219 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
| Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
| Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
| Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
| Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,979,050 (GRCm39) |
V526E |
probably damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
| Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
| Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
| Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
| Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
| Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
probably 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 |
|
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'- AAAGCAGACGTGTCCAGCAG -3'
(R):5'- AGAACTACCTGAACTGGTACCG -3'
Sequencing Primer
(F):5'- GTGCTTCCTCTGTAGAGA -3'
(R):5'- GAACTGGTACCGTGCCATCTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation