Incidental Mutation 'R6337:Snd1'
| ID |
513746 |
| 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 |
044491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R6337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28888288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 908
(Y908H)
|
| 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: Y908H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: Y908H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
G |
3: 89,969,040 (GRCm39) |
V221G |
probably benign |
Het |
| Abca12 |
G |
A |
1: 71,334,172 (GRCm39) |
A1110V |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Acsm5 |
G |
A |
7: 119,133,458 (GRCm39) |
A208T |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,509,709 (GRCm39) |
Y53* |
probably null |
Het |
| Adgrg7 |
T |
A |
16: 56,572,788 (GRCm39) |
I343F |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,580,426 (GRCm39) |
K376M |
possibly damaging |
Het |
| Akna |
A |
G |
4: 63,292,240 (GRCm39) |
Y1142H |
probably benign |
Het |
| Anks1b |
A |
T |
10: 90,757,158 (GRCm39) |
T182S |
probably benign |
Het |
| Apol7e |
T |
A |
15: 77,598,582 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Bptf |
G |
T |
11: 106,949,605 (GRCm39) |
T2238K |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,889,829 (GRCm39) |
E107G |
probably benign |
Het |
| Ccng2 |
C |
T |
5: 93,418,780 (GRCm39) |
A135V |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,441,566 (GRCm39) |
R842L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,591,995 (GRCm39) |
T3S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,390,468 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dusp26 |
T |
C |
8: 31,586,325 (GRCm39) |
V182A |
probably damaging |
Het |
| Eif3e |
T |
C |
15: 43,115,692 (GRCm39) |
D358G |
possibly damaging |
Het |
| Epha3 |
A |
T |
16: 63,388,806 (GRCm39) |
L814H |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,454,318 (GRCm39) |
N1877S |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,953 (GRCm39) |
Y156* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,221,319 (GRCm39) |
D250G |
probably benign |
Het |
| Gtf2e2 |
C |
T |
8: 34,266,043 (GRCm39) |
R240* |
probably null |
Het |
| Hells |
G |
T |
19: 38,943,254 (GRCm39) |
Q519H |
probably benign |
Het |
| Hscb |
A |
G |
5: 110,987,360 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
A |
11: 75,537,640 (GRCm39) |
I350N |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,843,799 (GRCm39) |
V221I |
possibly damaging |
Het |
| Itga8 |
A |
T |
2: 12,258,280 (GRCm39) |
Y261* |
probably null |
Het |
| Itprid2 |
G |
A |
2: 79,485,463 (GRCm39) |
D506N |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,014 (GRCm39) |
T1684M |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,268,811 (GRCm39) |
H4157Q |
probably damaging |
Het |
| Nceh1 |
G |
T |
3: 27,276,956 (GRCm39) |
R93L |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,283,025 (GRCm39) |
F339S |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,838 (GRCm39) |
C181* |
probably null |
Het |
| Phf11a |
C |
A |
14: 59,521,817 (GRCm39) |
C118F |
probably damaging |
Het |
| Purg |
A |
G |
8: 33,876,451 (GRCm39) |
K30E |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,708,101 (GRCm39) |
R110H |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina3a |
T |
C |
12: 104,079,137 (GRCm39) |
F10L |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,121,298 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,194,231 (GRCm39) |
M237K |
probably benign |
Het |
| Slitrk5 |
A |
T |
14: 111,917,684 (GRCm39) |
D436V |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,132,562 (GRCm39) |
V1132A |
probably benign |
Het |
| Speer3 |
A |
G |
5: 13,843,369 (GRCm39) |
E92G |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,143 (GRCm39) |
E58G |
possibly damaging |
Het |
| Tbx10 |
A |
T |
19: 4,047,312 (GRCm39) |
K139* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,766,651 (GRCm39) |
Y25H |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,376,960 (GRCm39) |
R163H |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,399,026 (GRCm38) |
T549A |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,833,080 (GRCm39) |
I46T |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vipr2 |
T |
A |
12: 116,086,363 (GRCm39) |
Y129* |
probably null |
Het |
| Vps37a |
A |
T |
8: 40,993,749 (GRCm39) |
Q248L |
probably benign |
Het |
| Wrap53 |
T |
C |
11: 69,468,511 (GRCm39) |
I179V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,450,750 (GRCm39) |
A1609V |
unknown |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb5 |
G |
A |
4: 44,993,459 (GRCm39) |
R642W |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,096 (GRCm39) |
|
probably null |
Het |
| Zup1 |
T |
C |
10: 33,825,252 (GRCm39) |
N77D |
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 |
|
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 |
|
|
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'- CCAGGAATCAGCCAAGAGTG -3'
(R):5'- ATTACCACTGTGCGGGTCTG -3'
Sequencing Primer
(F):5'- TCAGCCAAGAGTGCCAGG -3'
(R):5'- AACTAACCTCGGGTTCTCCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation