Incidental Mutation 'R0959:Snd1'
| ID |
81766 |
| 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 |
039088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R0959 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28884970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 774
(S774T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001460
AA Change: S774T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: S774T
| 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: 99.6%
- 3x: 98.7%
- 10x: 95.8%
- 20x: 89.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,808,434 (GRCm39) |
V919A |
probably damaging |
Het |
| Adam28 |
G |
A |
14: 68,845,387 (GRCm39) |
P761L |
possibly damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,965,566 (GRCm39) |
C525S |
possibly damaging |
Het |
| Aplf |
G |
A |
6: 87,623,065 (GRCm39) |
P338L |
probably benign |
Het |
| Arl5b |
T |
A |
2: 15,077,942 (GRCm39) |
I89N |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,297,320 (GRCm39) |
V596A |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,273,076 (GRCm39) |
F1400C |
probably damaging |
Het |
| Ccdc149 |
A |
T |
5: 52,542,497 (GRCm39) |
L365Q |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,318,870 (GRCm39) |
S149P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,775 (GRCm39) |
C275R |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,509 (GRCm39) |
L163P |
probably damaging |
Het |
| Dhx37 |
T |
G |
5: 125,500,496 (GRCm39) |
N570T |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,453,657 (GRCm39) |
N223D |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,208,885 (GRCm39) |
H143Y |
possibly damaging |
Het |
| Gfod1 |
A |
T |
13: 43,456,905 (GRCm39) |
D23E |
probably benign |
Het |
| Gm7361 |
A |
T |
5: 26,467,051 (GRCm39) |
E223D |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,274,415 (GRCm39) |
K161E |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,158,366 (GRCm39) |
N1617S |
possibly damaging |
Het |
| Med13l |
A |
T |
5: 118,892,350 (GRCm39) |
E1924D |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
T |
G |
2: 179,725,221 (GRCm39) |
S145A |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,062,454 (GRCm39) |
S1442N |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,836,246 (GRCm39) |
I315N |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,285 (GRCm39) |
R304* |
probably null |
Het |
| Or2a56 |
G |
T |
6: 42,932,686 (GRCm39) |
V85L |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,885,576 (GRCm39) |
F1552L |
unknown |
Het |
| Pigw |
G |
A |
11: 84,769,033 (GRCm39) |
H99Y |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,158,379 (GRCm39) |
M444I |
possibly damaging |
Het |
| Rchy1 |
A |
G |
5: 92,105,476 (GRCm39) |
F82L |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,432,626 (GRCm39) |
F125V |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,241,149 (GRCm39) |
E435K |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,407 (GRCm39) |
R3590G |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,704 (GRCm39) |
E394G |
probably damaging |
Het |
| Scrib |
G |
C |
15: 75,923,310 (GRCm39) |
P1249A |
probably benign |
Het |
| Shc4 |
C |
T |
2: 125,520,607 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,037,450 (GRCm39) |
I520N |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,021,959 (GRCm39) |
I484T |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,354,899 (GRCm39) |
T110K |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,184,129 (GRCm39) |
P557L |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,216,198 (GRCm39) |
D133G |
probably benign |
Het |
| Tg |
A |
T |
15: 66,579,859 (GRCm39) |
T1555S |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,644,455 (GRCm39) |
E15G |
possibly damaging |
Het |
| Timd5 |
A |
T |
11: 46,427,247 (GRCm39) |
R187* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,625,440 (GRCm39) |
I15128F |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,066 (GRCm39) |
Y68C |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,532,442 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,743,786 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,897 (GRCm39) |
D431G |
probably damaging |
Het |
| Xylb |
C |
A |
9: 119,209,091 (GRCm39) |
A311E |
possibly damaging |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb39 |
C |
A |
10: 127,578,931 (GRCm39) |
H502N |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,755,876 (GRCm39) |
L402P |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,448,451 (GRCm39) |
R256Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCACTGTGAGACTAGCAAAACG -3'
(R):5'- AGAGCACAATGTCCAGGCCCTATG -3'
Sequencing Primer
(F):5'- TAGCAAAACGGAACTGAGCC -3'
(R):5'- TGGAGTCTATTCCAGCACAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation