Incidental Mutation 'R8178:Snd1'
ID |
634473 |
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 |
067603-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R8178 (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 28874975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 632
(F632S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
|
AlphaFold |
Q78PY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001460
AA Change: F632S
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000001460 Gene: ENSMUSG00000001424 AA Change: F632S
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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
99% (68/69) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
A |
G |
17: 79,935,699 (GRCm39) |
I276V |
|
Het |
Acsm5 |
C |
A |
7: 119,141,618 (GRCm39) |
H538N |
probably damaging |
Het |
Adamts17 |
A |
G |
7: 66,499,464 (GRCm39) |
I4V |
possibly damaging |
Het |
Adgrg3 |
T |
C |
8: 95,761,675 (GRCm39) |
V146A |
probably damaging |
Het |
Ankrd52 |
T |
A |
10: 128,225,170 (GRCm39) |
L877Q |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,189,481 (GRCm39) |
D394V |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,761,983 (GRCm39) |
E413G |
unknown |
Het |
Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
Arsk |
G |
T |
13: 76,239,861 (GRCm39) |
T114K |
probably damaging |
Het |
Bpifb2 |
T |
C |
2: 153,733,876 (GRCm39) |
V406A |
probably damaging |
Het |
Cbr3 |
C |
A |
16: 93,480,393 (GRCm39) |
Q61K |
probably benign |
Het |
Ccdc73 |
C |
T |
2: 104,821,557 (GRCm39) |
S502L |
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,098,931 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
A |
12: 112,705,719 (GRCm39) |
M1159K |
possibly damaging |
Het |
Cep295 |
A |
T |
9: 15,244,836 (GRCm39) |
S1159T |
|
Het |
Cit |
C |
T |
5: 116,107,131 (GRCm39) |
R1088W |
probably damaging |
Het |
Col16a1 |
A |
T |
4: 129,947,270 (GRCm39) |
H205L |
unknown |
Het |
Cpt1c |
T |
G |
7: 44,609,077 (GRCm39) |
H748P |
probably damaging |
Het |
Cstdc4 |
T |
G |
16: 36,006,772 (GRCm39) |
Y35* |
probably null |
Het |
Dcaf8 |
A |
T |
1: 172,013,886 (GRCm39) |
D359V |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,618,422 (GRCm39) |
Y277C |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,832,790 (GRCm39) |
K898R |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,037,208 (GRCm39) |
T3345S |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,803,815 (GRCm39) |
N254Y |
probably damaging |
Het |
F2 |
A |
T |
2: 91,460,618 (GRCm39) |
|
probably null |
Het |
Fam216b |
G |
C |
14: 78,322,504 (GRCm39) |
H67D |
possibly damaging |
Het |
Fbxl17 |
A |
C |
17: 63,794,967 (GRCm39) |
|
probably null |
Het |
Gas2 |
T |
A |
7: 51,547,026 (GRCm39) |
M59K |
probably damaging |
Het |
Glud1 |
G |
A |
14: 34,065,664 (GRCm39) |
G554D |
probably damaging |
Het |
Gys2 |
C |
T |
6: 142,402,138 (GRCm39) |
G234R |
probably damaging |
Het |
Ifngr1 |
A |
G |
10: 19,485,241 (GRCm39) |
I413M |
probably benign |
Het |
Inpp5a |
C |
T |
7: 139,118,153 (GRCm39) |
R236C |
probably damaging |
Het |
Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
Lingo3 |
T |
A |
10: 80,670,464 (GRCm39) |
T489S |
possibly damaging |
Het |
Lrpprc |
A |
G |
17: 85,079,575 (GRCm39) |
L227P |
probably damaging |
Het |
Morn1 |
A |
G |
4: 155,213,160 (GRCm39) |
Q356R |
probably benign |
Het |
Naxd |
A |
C |
8: 11,561,987 (GRCm39) |
K275Q |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
Or1ad8 |
T |
A |
11: 50,898,437 (GRCm39) |
C213S |
probably damaging |
Het |
Or5aq6 |
C |
T |
2: 86,923,220 (GRCm39) |
V174M |
possibly damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,571 (GRCm39) |
V53A |
possibly damaging |
Het |
Pdxk |
C |
T |
10: 78,289,338 (GRCm39) |
V38M |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pes1 |
T |
C |
11: 3,927,718 (GRCm39) |
S482P |
probably benign |
Het |
Pglyrp1 |
T |
A |
7: 18,618,657 (GRCm39) |
F3I |
unknown |
Het |
Pira13 |
T |
C |
7: 3,824,260 (GRCm39) |
K631R |
unknown |
Het |
Plce1 |
T |
A |
19: 38,761,423 (GRCm39) |
F2092I |
possibly damaging |
Het |
Pms1 |
A |
G |
1: 53,246,505 (GRCm39) |
S345P |
probably benign |
Het |
Pom121l12 |
C |
A |
11: 14,550,011 (GRCm39) |
P239H |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,018 (GRCm39) |
I1424T |
probably benign |
Het |
Prmt6 |
A |
G |
3: 110,158,140 (GRCm39) |
Y50H |
probably damaging |
Het |
Rbm39 |
T |
C |
2: 155,996,195 (GRCm39) |
I397V |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,238,307 (GRCm39) |
V519A |
possibly damaging |
Het |
Sec23a |
T |
C |
12: 59,053,980 (GRCm39) |
E6G |
possibly damaging |
Het |
Shank1 |
T |
C |
7: 43,962,748 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
G |
11: 83,105,505 (GRCm39) |
I378V |
probably benign |
Het |
Smn1 |
T |
A |
13: 100,267,303 (GRCm39) |
|
probably null |
Het |
Sun5 |
T |
C |
2: 153,698,131 (GRCm39) |
|
probably null |
Het |
Tial1 |
T |
C |
7: 128,046,614 (GRCm39) |
R209G |
probably benign |
Het |
Trhde |
T |
C |
10: 114,244,598 (GRCm39) |
I963V |
possibly damaging |
Het |
Tssc4 |
G |
T |
7: 142,623,932 (GRCm39) |
R80L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,642,852 (GRCm39) |
N13261K |
probably damaging |
Het |
Ugdh |
A |
T |
5: 65,581,005 (GRCm39) |
|
probably null |
Het |
Vmn1r218 |
A |
T |
13: 23,321,472 (GRCm39) |
E273V |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,386,988 (GRCm39) |
F109Y |
possibly damaging |
Het |
Zcchc7 |
A |
G |
4: 44,931,398 (GRCm39) |
S196G |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,298,335 (GRCm39) |
C324S |
probably damaging |
Het |
Zfp976 |
T |
C |
7: 42,262,959 (GRCm39) |
T294A |
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 |
|
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 |
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'- AACTTGCAGAACTGTGCCC -3'
(R):5'- CTTCCAGACTGACAGCTCTG -3'
Sequencing Primer
(F):5'- AGAACTGTGCCCGTGAGCTG -3'
(R):5'- CTGGCTTAGGATCAAAGGTGCC -3'
|
Posted On |
2020-07-13 |