Incidental Mutation 'R0709:Snd1'
| ID |
216224 |
| 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 |
038892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R0709 (G1)
|
| Quality Score |
63 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28480332-28935161 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to G
at 28545469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000164915]
[ENSMUST00000167201]
|
| AlphaFold |
Q78PY7 |
| Predicted Effect |
probably benign
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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (83/85) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,358 (GRCm39) |
D137V |
probably damaging |
Het |
| Aar2 |
C |
T |
2: 156,408,930 (GRCm39) |
P378L |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,195,342 (GRCm39) |
H718Q |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,872,364 (GRCm39) |
L319F |
probably damaging |
Het |
| Angpt4 |
C |
A |
2: 151,776,434 (GRCm39) |
P321T |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 108,896,171 (GRCm39) |
N282S |
probably benign |
Het |
| AW554918 |
A |
C |
18: 25,596,711 (GRCm39) |
S525R |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,414,969 (GRCm39) |
I644N |
possibly damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,200,719 (GRCm39) |
Y413H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,863,127 (GRCm39) |
H223R |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,579,260 (GRCm39) |
V634A |
possibly damaging |
Het |
| Col7a1 |
T |
A |
9: 108,790,616 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,445,220 (GRCm39) |
|
probably benign |
Het |
| Csrnp3 |
C |
T |
2: 65,852,907 (GRCm39) |
S445L |
probably damaging |
Het |
| Cxcl13 |
G |
T |
5: 96,106,530 (GRCm39) |
C34F |
probably damaging |
Het |
| Dars2 |
T |
C |
1: 160,874,498 (GRCm39) |
E397G |
probably benign |
Het |
| Dlg5 |
C |
T |
14: 24,196,323 (GRCm39) |
V1625M |
probably damaging |
Het |
| Dnah12 |
T |
G |
14: 26,606,222 (GRCm39) |
|
probably benign |
Het |
| Eif4a1 |
C |
A |
11: 69,561,078 (GRCm39) |
A76S |
probably damaging |
Het |
| Fam162b |
T |
A |
10: 51,463,347 (GRCm39) |
I107L |
probably damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,057 (GRCm39) |
C593F |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,359 (GRCm39) |
F152L |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,070,085 (GRCm39) |
G534D |
probably benign |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,697,906 (GRCm39) |
V74E |
probably damaging |
Het |
| Gprc5a |
T |
A |
6: 135,055,948 (GRCm39) |
S132T |
probably damaging |
Het |
| Hk3 |
G |
A |
13: 55,162,543 (GRCm39) |
R47C |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,815 (GRCm39) |
Q3351L |
unknown |
Het |
| Icam1 |
T |
A |
9: 20,930,423 (GRCm39) |
F92L |
probably damaging |
Het |
| Ifi213 |
C |
T |
1: 173,417,366 (GRCm39) |
V349I |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,275,888 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
A |
G |
8: 92,526,048 (GRCm39) |
V487A |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 33,855,924 (GRCm39) |
V204A |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,137,280 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,492,665 (GRCm39) |
V1369I |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,210,422 (GRCm39) |
K573N |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,234,962 (GRCm39) |
R204G |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,877,732 (GRCm39) |
D461V |
unknown |
Het |
| Nek6 |
T |
A |
2: 38,447,858 (GRCm39) |
S41T |
probably damaging |
Het |
| Nudt22 |
T |
C |
19: 6,970,874 (GRCm39) |
E232G |
probably damaging |
Het |
| Numbl |
C |
A |
7: 26,973,415 (GRCm39) |
F192L |
probably damaging |
Het |
| Or4c105 |
C |
T |
2: 88,648,226 (GRCm39) |
T237I |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,422 (GRCm39) |
I46K |
probably damaging |
Het |
| P2rx4 |
T |
C |
5: 122,852,467 (GRCm39) |
V47A |
probably damaging |
Het |
| Phka1 |
T |
A |
X: 101,629,710 (GRCm39) |
I478F |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,536,281 (GRCm39) |
T200I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,593,698 (GRCm39) |
|
probably null |
Het |
| Polg2 |
C |
T |
11: 106,659,239 (GRCm39) |
G425R |
probably damaging |
Het |
| Ptprm |
G |
T |
17: 67,251,327 (GRCm39) |
|
probably null |
Het |
| Reg1 |
G |
A |
6: 78,405,101 (GRCm39) |
R108H |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,084,367 (GRCm39) |
F86I |
probably damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,265,603 (GRCm39) |
L372P |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,836,985 (GRCm39) |
V28M |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,224,012 (GRCm39) |
N9S |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,475,845 (GRCm39) |
A235T |
probably benign |
Het |
| Sp100 |
T |
A |
1: 85,622,002 (GRCm39) |
N362K |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,641,775 (GRCm39) |
I32F |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,069,040 (GRCm39) |
R189C |
probably damaging |
Het |
| Tchp |
T |
C |
5: 114,855,514 (GRCm39) |
I298T |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,637,570 (GRCm39) |
I225V |
probably benign |
Het |
| Timm50 |
A |
T |
7: 28,006,366 (GRCm39) |
V245E |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,908,328 (GRCm39) |
E1327G |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,987,276 (GRCm39) |
E10G |
possibly damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,747 (GRCm39) |
|
probably benign |
Het |
| Ttr |
A |
T |
18: 20,803,034 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
G |
9: 113,773,999 (GRCm39) |
Y66C |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,897,881 (GRCm39) |
M299L |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,166 (GRCm39) |
N98K |
probably damaging |
Het |
| Yipf5 |
A |
G |
18: 40,340,825 (GRCm39) |
S176P |
probably benign |
Het |
| Zpbp2 |
C |
T |
11: 98,444,763 (GRCm39) |
T97I |
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 |
|
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 |
|
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'- CGATCATCTTGTGAATGAAGCAGCTTTT -3'
(R):5'- ACTTGGAGACTGTCAAAGACTTGTCCTT -3'
Sequencing Primer
(F):5'- ATGAAGCAGCTTTTGTTTTACTGAG -3'
(R):5'- ctaaagcacacagcaaagaaac -3'
|
| Posted On |
2014-07-31 |
Incidental Mutation