Incidental Mutation 'R5172:Snd1'
| ID |
478124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snd1
|
| Ensembl Gene |
ENSMUSG00000001424 |
| Gene Name |
staphylococcal nuclease and tudor domain containing 1 |
| Synonyms |
p100 co-activator, Tudor-SN |
| MMRRC Submission |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28475139-28935162 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 28886616 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 874
(V874G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001460
AA Change: V874G
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
AA Change: V874G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,375,608 (GRCm38) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,753,848 (GRCm38) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,485,251 (GRCm38) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,685,513 (GRCm38) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,795,035 (GRCm38) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,589,343 (GRCm38) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,751,286 (GRCm38) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,449,193 (GRCm38) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,535,930 (GRCm38) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,615,526 (GRCm38) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,071,455 (GRCm38) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,477,397 (GRCm38) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 19,088,019 (GRCm38) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 118,887,151 (GRCm38) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,344,653 (GRCm38) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 80,612,566 (GRCm38) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,101,673 (GRCm38) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,329,432 (GRCm38) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 (GRCm38) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,739,164 (GRCm38) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,195,382 (GRCm38) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 35,853,090 (GRCm38) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,894,087 (GRCm38) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,665,128 (GRCm38) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,824,098 (GRCm38) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,109,542 (GRCm38) |
Q33K |
probably benign |
Het |
| Olfr1152 |
A |
G |
2: 87,868,827 (GRCm38) |
T279A |
probably benign |
Het |
| Olfr584 |
T |
C |
7: 103,085,677 (GRCm38) |
L48P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,840,802 (GRCm38) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,163,261 (GRCm38) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,570,269 (GRCm38) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,512,295 (GRCm38) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,957,678 (GRCm38) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,347,541 (GRCm38) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,936,580 (GRCm38) |
E180G |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,797,931 (GRCm38) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,560,017 (GRCm38) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,871,336 (GRCm38) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,752,493 (GRCm38) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,204,034 (GRCm38) |
T119I |
probably damaging |
Het |
| Zc3h18 |
T |
G |
8: 122,407,420 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Snd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Snd1
|
APN |
6 |
28,512,986 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00940:Snd1
|
APN |
6 |
28,745,175 (GRCm38) |
intron |
probably benign |
|
|
IGL01340:Snd1
|
APN |
6 |
28,883,369 (GRCm38) |
missense |
probably benign |
|
|
IGL01892:Snd1
|
APN |
6 |
28,888,124 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02063:Snd1
|
APN |
6 |
28,526,221 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02134:Snd1
|
APN |
6 |
28,880,279 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL02366:Snd1
|
APN |
6 |
28,707,150 (GRCm38) |
intron |
probably benign |
|
|
PIT4677001:Snd1
|
UTSW |
6 |
28,880,296 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0039:Snd1
|
UTSW |
6 |
28,745,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0053:Snd1
|
UTSW |
6 |
28,745,335 (GRCm38) |
intron |
probably benign |
|
|
R0053:Snd1
|
UTSW |
6 |
28,745,335 (GRCm38) |
intron |
probably benign |
|
|
R0463:Snd1
|
UTSW |
6 |
28,724,956 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0576:Snd1
|
UTSW |
6 |
28,886,577 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0709:Snd1
|
UTSW |
6 |
28,545,470 (GRCm38) |
splice site |
probably benign |
|
|
R0959:Snd1
|
UTSW |
6 |
28,884,971 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1698:Snd1
|
UTSW |
6 |
28,888,253 (GRCm38) |
nonsense |
probably null |
|
|
R1853:Snd1
|
UTSW |
6 |
28,545,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2059:Snd1
|
UTSW |
6 |
28,745,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Snd1
|
UTSW |
6 |
28,888,079 (GRCm38) |
missense |
probably benign |
|
|
R3832:Snd1
|
UTSW |
6 |
28,531,404 (GRCm38) |
splice site |
probably benign |
|
|
R3833:Snd1
|
UTSW |
6 |
28,531,404 (GRCm38) |
splice site |
probably benign |
|
|
R4643:Snd1
|
UTSW |
6 |
28,880,249 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4665:Snd1
|
UTSW |
6 |
28,707,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4843:Snd1
|
UTSW |
6 |
28,668,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4884:Snd1
|
UTSW |
6 |
28,526,912 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4959:Snd1
|
UTSW |
6 |
28,884,251 (GRCm38) |
nonsense |
probably null |
|
|
R4973:Snd1
|
UTSW |
6 |
28,884,251 (GRCm38) |
nonsense |
probably null |
|
|
R5065:Snd1
|
UTSW |
6 |
28,888,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5066:Snd1
|
UTSW |
6 |
28,888,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5067:Snd1
|
UTSW |
6 |
28,888,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5131:Snd1
|
UTSW |
6 |
28,885,050 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5239:Snd1
|
UTSW |
6 |
28,545,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5313:Snd1
|
UTSW |
6 |
28,668,601 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5395:Snd1
|
UTSW |
6 |
28,526,184 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5938:Snd1
|
UTSW |
6 |
28,874,859 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6019:Snd1
|
UTSW |
6 |
28,880,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6248:Snd1
|
UTSW |
6 |
28,520,235 (GRCm38) |
nonsense |
probably null |
|
|
R6337:Snd1
|
UTSW |
6 |
28,888,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6810:Snd1
|
UTSW |
6 |
28,668,610 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6932:Snd1
|
UTSW |
6 |
28,626,101 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7469:Snd1
|
UTSW |
6 |
28,626,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7485:Snd1
|
UTSW |
6 |
28,531,450 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7571:Snd1
|
UTSW |
6 |
28,526,203 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7866:Snd1
|
UTSW |
6 |
28,527,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8178:Snd1
|
UTSW |
6 |
28,874,976 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8208:Snd1
|
UTSW |
6 |
28,526,055 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8526:Snd1
|
UTSW |
6 |
28,745,254 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8848:Snd1
|
UTSW |
6 |
28,874,963 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8854:Snd1
|
UTSW |
6 |
28,526,969 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9310:Snd1
|
UTSW |
6 |
28,795,937 (GRCm38) |
missense |
probably null |
1.00 |
|
R9326:Snd1
|
UTSW |
6 |
28,795,843 (GRCm38) |
nonsense |
probably null |
|
|
R9348:Snd1
|
UTSW |
6 |
28,745,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCGGGACATCCAAAACAC -3'
(R):5'- CAAACCCGCAGTCAATTAATTTGTG -3'
Sequencing Primer
(F):5'- ACTCAGTGCCTGCTCAACG -3'
(R):5'- TTTTAAAAACCCAACAAACCCAAATC -3'
|
| Posted On |
2017-05-25 |
Incidental Mutation