Incidental Mutation 'R5313:Snd1'
| ID |
405694 |
| 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 |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28668600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 429
(T429K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000171353]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001460
AA Change: T429K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: T429K
| 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
AA Change: T429K
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
AA Change: T429K
| 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: ENSMUST00000171353
|
| SMART Domains |
Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171532
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,666 (GRCm39) |
I168V |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ido1 |
A |
C |
8: 25,077,794 (GRCm39) |
I91S |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,282,275 (GRCm39) |
K494R |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,681 (GRCm39) |
K542N |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,626 (GRCm39) |
T64K |
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 |
|
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 |
|
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'- GGGTGCTGTCCTTTATCCAATG -3'
(R):5'- TAGTCCACTGGGTTAAGGACAAGAG -3'
Sequencing Primer
(F):5'- AATGCCTTTTGGAGATCTTTCTGC -3'
(R):5'- CACTGGGTTAAGGACAAGAGAGAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation