Incidental Mutation 'R5938:Snd1'
| ID |
462371 |
| 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 |
044131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 28874858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000164915]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001460
|
| SMART Domains |
Protein: ENSMUSP00000001460
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 |
|
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: ENSMUST00000001460
|
| SMART Domains |
Protein: ENSMUSP00000001460
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 |
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000166136
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171195
|
| Meta Mutation Damage Score |
0.9597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
94% (63/67) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,333,400 (GRCm39) |
D503E |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,825,692 (GRCm39) |
V1001I |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,516 (GRCm39) |
I192M |
probably damaging |
Het |
| Cep44 |
A |
G |
8: 57,000,457 (GRCm39) |
S19P |
possibly damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,949,225 (GRCm39) |
I130K |
unknown |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
T |
G |
4: 139,084,931 (GRCm39) |
H167Q |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,566,066 (GRCm39) |
Y416D |
probably damaging |
Het |
| Erbb2 |
G |
A |
11: 98,326,397 (GRCm39) |
R1007H |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,245 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,005,388 (GRCm39) |
R1929Q |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,807,835 (GRCm39) |
C1385S |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,256,891 (GRCm39) |
I777T |
probably damaging |
Het |
| Gm16092 |
T |
G |
1: 85,440,689 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
A |
12: 16,767,259 (GRCm39) |
K314N |
probably damaging |
Het |
| Iigp1c |
C |
A |
18: 60,378,724 (GRCm39) |
N86K |
probably damaging |
Het |
| Ipcef1 |
A |
G |
10: 6,858,029 (GRCm39) |
|
probably benign |
Het |
| Iqank1 |
G |
A |
15: 75,917,281 (GRCm39) |
E305K |
possibly damaging |
Het |
| Mgat4a |
C |
A |
1: 37,491,344 (GRCm39) |
L292F |
probably damaging |
Het |
| Mill1 |
A |
G |
7: 17,996,613 (GRCm39) |
N143S |
probably benign |
Het |
| Mindy1 |
A |
G |
3: 95,201,067 (GRCm39) |
T324A |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,202,851 (GRCm39) |
H1882L |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,393,277 (GRCm39) |
W494R |
probably damaging |
Het |
| Oas1c |
A |
T |
5: 120,943,598 (GRCm39) |
H180Q |
probably benign |
Het |
| Or2q1 |
T |
A |
6: 42,794,701 (GRCm39) |
C99S |
probably damaging |
Het |
| Or4c108 |
T |
C |
2: 88,803,357 (GRCm39) |
M293V |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,708 (GRCm39) |
M46V |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,620 (GRCm39) |
S217T |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,396 (GRCm39) |
R291G |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,285,693 (GRCm39) |
V725A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,211,541 (GRCm39) |
E666G |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,432,411 (GRCm39) |
D285G |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,493,442 (GRCm39) |
S81P |
possibly damaging |
Het |
| Rhd |
T |
A |
4: 134,623,287 (GRCm39) |
F418Y |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,402,385 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,746,290 (GRCm39) |
L3830R |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,237,625 (GRCm39) |
Y330H |
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,109,791 (GRCm39) |
E130G |
possibly damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,588,563 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,194,443 (GRCm39) |
L400P |
probably damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tas2r110 |
A |
T |
6: 132,845,016 (GRCm39) |
I16L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,546,058 (GRCm39) |
V213D |
possibly damaging |
Het |
| Uba2 |
A |
T |
7: 33,864,915 (GRCm39) |
|
probably null |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,886 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,467,198 (GRCm39) |
N2452S |
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 |
|
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 |
|
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'- AACGATGAGTCTCGAGTGC -3'
(R):5'- TTCCTCAGCAGACAGGAGAG -3'
Sequencing Primer
(F):5'- CTGACTCAAGAAGGCTTTGC -3'
(R):5'- AGAGGCTTGTAGTAGGCACTGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation