Incidental Mutation 'R5239:Snd1'
| ID |
400587 |
| 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 |
042810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R5239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28545524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 360
(L360P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001460
AA Change: L360P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: L360P
| 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 |
possibly damaging
Transcript: ENSMUST00000167201
AA Change: L360P
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
AA Change: L360P
| 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 |
0.2003 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (60/64) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,848 (GRCm39) |
N168S |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,184,207 (GRCm39) |
T598S |
possibly damaging |
Het |
| Ago1 |
G |
T |
4: 126,335,008 (GRCm39) |
H405N |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,234,781 (GRCm39) |
|
probably null |
Het |
| Baz1a |
A |
G |
12: 54,945,129 (GRCm39) |
S1409P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,078,908 (GRCm39) |
E305G |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,663,616 (GRCm39) |
R262W |
probably damaging |
Het |
| Cish |
T |
A |
9: 107,177,111 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
A |
17: 72,106,072 (GRCm39) |
I85K |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,532 (GRCm39) |
C187* |
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,801,514 (GRCm39) |
T54K |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,520,467 (GRCm39) |
T603S |
probably benign |
Het |
| Eif3l |
T |
A |
15: 78,973,995 (GRCm39) |
M470K |
possibly damaging |
Het |
| Entpd2 |
A |
G |
2: 25,290,830 (GRCm39) |
T445A |
probably damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,944 (GRCm39) |
V369L |
possibly damaging |
Het |
| Galnt9 |
T |
A |
5: 110,692,635 (GRCm39) |
L23H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,804,866 (GRCm39) |
F399S |
probably benign |
Het |
| Gm43972 |
G |
A |
5: 25,866,119 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6489 |
T |
A |
1: 31,326,351 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
A |
T |
7: 24,764,895 (GRCm39) |
M82K |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,904,767 (GRCm39) |
Y121H |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,560 (GRCm39) |
I495N |
possibly damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,255 (GRCm39) |
S459P |
probably benign |
Het |
| Kel |
A |
T |
6: 41,665,048 (GRCm39) |
L254* |
probably null |
Het |
| Lasp1 |
A |
G |
11: 97,690,686 (GRCm39) |
K23E |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,422,773 (GRCm39) |
R207L |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,106,051 (GRCm39) |
Q1222L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,083,269 (GRCm39) |
V1411I |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,820,709 (GRCm39) |
F851L |
probably benign |
Het |
| Myom3 |
G |
A |
4: 135,528,303 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,491,519 (GRCm39) |
L1464I |
probably benign |
Het |
| Nr2e3 |
G |
T |
9: 59,857,059 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 91,011,537 (GRCm39) |
D364G |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,555 (GRCm39) |
H65R |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,853 (GRCm39) |
T112S |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,492 (GRCm39) |
S274T |
probably damaging |
Het |
| Or9g4b |
T |
G |
2: 85,616,002 (GRCm39) |
I49S |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,936,859 (GRCm39) |
S1523T |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,821 (GRCm39) |
|
probably null |
Het |
| Pkdcc |
C |
A |
17: 83,523,413 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,410,811 (GRCm39) |
L267P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,890,021 (GRCm39) |
H80R |
probably damaging |
Het |
| Pwwp3a |
C |
T |
10: 80,064,255 (GRCm39) |
R14* |
probably null |
Het |
| Rag1 |
G |
T |
2: 101,473,300 (GRCm39) |
A614E |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,735,553 (GRCm39) |
D4075G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,758,859 (GRCm39) |
R455L |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,589,227 (GRCm39) |
N232S |
probably benign |
Het |
| Tmem26 |
T |
A |
10: 68,587,096 (GRCm39) |
F181L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,842 (GRCm39) |
M1512V |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,655,852 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,868,023 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,592 (GRCm39) |
Y99* |
probably null |
Het |
| Wnt9b |
A |
T |
11: 103,622,054 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,693,559 (GRCm39) |
E604G |
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 |
|
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'- GTTGGTAGGAAAACAGTATTGGGTC -3'
(R):5'- AGATGCTTCCTGAGTGCTTAC -3'
Sequencing Primer
(F):5'- GGGTCTATTAAGATGGCTACCTATC -3'
(R):5'- GAATGACCCTCACAGGTTCATGTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation