Incidental Mutation 'IGL02063:Snd1'
| ID |
185535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snd1
|
| Ensembl Gene |
ENSMUSG00000001424 |
| Gene Name |
staphylococcal nuclease and tudor domain containing 1 |
| Synonyms |
Tudor-SN, p100 co-activator |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL02063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 28526220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000168362]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001460
|
| SMART Domains |
Protein: ENSMUSP00000001460
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 |
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168362
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2b |
A |
G |
12: 105,614,581 (GRCm39) |
Y1117H |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,480 (GRCm39) |
R24G |
probably damaging |
Het |
| BC005624 |
A |
G |
2: 30,868,946 (GRCm39) |
M76T |
probably benign |
Het |
| Blm |
G |
T |
7: 80,159,167 (GRCm39) |
S323* |
probably null |
Het |
| Card19 |
C |
A |
13: 49,356,607 (GRCm39) |
G181* |
probably null |
Het |
| Cilp2 |
T |
C |
8: 70,335,515 (GRCm39) |
I494M |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,934,617 (GRCm39) |
D1431G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,138,701 (GRCm39) |
C560Y |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,576,096 (GRCm39) |
S1091P |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,384,461 (GRCm39) |
I466T |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,459,684 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
C |
A |
2: 140,006,377 (GRCm39) |
D257Y |
possibly damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,769,485 (GRCm39) |
F634S |
probably damaging |
Het |
| Flywch2 |
A |
G |
17: 23,996,081 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,383,906 (GRCm39) |
I32N |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,900,957 (GRCm39) |
D1448G |
possibly damaging |
Het |
| Gm10335 |
T |
C |
10: 14,399,147 (GRCm39) |
|
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,438,418 (GRCm39) |
E44D |
probably benign |
Het |
| H2-M10.1 |
C |
T |
17: 36,634,901 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,143 (GRCm39) |
D141E |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,704,204 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
G |
T |
19: 42,596,778 (GRCm39) |
L78I |
probably benign |
Het |
| Mbd5 |
A |
T |
2: 49,164,779 (GRCm39) |
N360I |
probably damaging |
Het |
| Nfat5 |
A |
T |
8: 108,088,450 (GRCm39) |
M495L |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 88,762,565 (GRCm39) |
E204V |
possibly damaging |
Het |
| Or8k21 |
G |
T |
2: 86,145,137 (GRCm39) |
F164L |
possibly damaging |
Het |
| Paqr4 |
A |
T |
17: 23,958,886 (GRCm39) |
C38* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,282 (GRCm39) |
N553K |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,810 (GRCm39) |
M268K |
probably benign |
Het |
| Pdap1 |
A |
T |
5: 145,071,869 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,975,118 (GRCm39) |
Y281N |
unknown |
Het |
| Phka2 |
T |
A |
X: 159,347,209 (GRCm39) |
I664N |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,739,936 (GRCm39) |
D762E |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,884 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,740,706 (GRCm39) |
Q1006L |
probably null |
Het |
| Pramel12 |
C |
A |
4: 143,144,421 (GRCm39) |
Q256K |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,748,477 (GRCm39) |
Q197* |
probably null |
Het |
| Prodh |
A |
T |
16: 17,897,049 (GRCm39) |
|
probably null |
Het |
| Ptgr3 |
T |
A |
18: 84,113,390 (GRCm39) |
Y355* |
probably null |
Het |
| Rnft2 |
A |
G |
5: 118,380,587 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
G |
T |
14: 64,266,985 (GRCm39) |
S857I |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,372,992 (GRCm39) |
F1423S |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,854 (GRCm39) |
Y1631H |
probably damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,765,899 (GRCm39) |
I229K |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,684,615 (GRCm39) |
D280G |
probably benign |
Het |
| Srrm1 |
G |
T |
4: 135,074,518 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,098,874 (GRCm39) |
V5252A |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,627,882 (GRCm39) |
D2G |
probably benign |
Het |
| Uba1 |
T |
C |
X: 20,545,964 (GRCm39) |
S803P |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,326,605 (GRCm39) |
I202T |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,888 (GRCm39) |
I760F |
probably benign |
Het |
| Vgll1 |
A |
G |
X: 56,144,569 (GRCm39) |
|
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,676,276 (GRCm39) |
V347A |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,608 (GRCm39) |
E516G |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation