Incidental Mutation 'R8208:Snd1'
| ID |
636004 |
| 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 |
067631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R8208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28526054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 144
(P144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000168362]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001460
AA Change: P144L
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: P144L
| 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 null
Transcript: ENSMUST00000164915
AA Change: Q118*
|
| SMART Domains |
Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424
AA Change: Q118*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
142 |
1.56e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167201
AA Change: P144L
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
AA Change: P144L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
| Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
| Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,375,125 (GRCm39) |
H620Q |
probably damaging |
Het |
| Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
| Hcn2 |
T |
A |
10: 79,566,778 (GRCm39) |
M485K |
possibly damaging |
Het |
| Hirip3 |
G |
T |
7: 126,463,595 (GRCm39) |
C494F |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
| Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
| Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
| Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
| Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
| Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
| Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
| Pcf11 |
G |
T |
7: 92,298,731 (GRCm39) |
N1268K |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
| Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
| Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
| Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
| Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
| Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
| Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AAGTACTGCATGTTCTGTAGAGCC -3'
(R):5'- GCCATCCTCACCATTGACTG -3'
Sequencing Primer
(F):5'- CTGTAGAGCCTCTCATTAAATGC -3'
(R):5'- CCATTGACTGGCTTCTGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation