Incidental Mutation 'R5067:Snd1'
ID |
388365 |
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 |
042657-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R5067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 28888239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 891
(N891K)
|
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: N891K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000001460 Gene: ENSMUSG00000001424 AA Change: N891K
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 |
|
Meta Mutation Damage Score |
0.1577 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
Validation Efficiency |
100% (54/54) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,492,107 (GRCm39) |
P153L |
probably benign |
Het |
Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
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 |
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'- AGAGCACCTCCATCTTGACC -3'
(R):5'- TTCAATGCTAGCCACGACAGAG -3'
Sequencing Primer
(F):5'- AGCACCTCCATCTTGACCACTTC -3'
(R):5'- GGTTTCTGTACACTGAAGCAAGC -3'
|
Posted On |
2016-06-06 |