Incidental Mutation 'R2901:Snai2'
ID |
261483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snai2
|
Ensembl Gene |
ENSMUSG00000022676 |
Gene Name |
snail family zinc finger 2 |
Synonyms |
Slugh, Snail2, Slug |
MMRRC Submission |
040489-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.881)
|
Stock # |
R2901 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
14523716-14527249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14523847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 4
(S4P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023356]
|
AlphaFold |
P97469 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023356
AA Change: S4P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023356 Gene: ENSMUSG00000022676 AA Change: S4P
Domain | Start | End | E-Value | Type |
PDB:3W5K|B
|
1 |
59 |
4e-6 |
PDB |
low complexity region
|
60 |
84 |
N/A |
INTRINSIC |
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
ZnF_C2H2
|
129 |
151 |
4.17e-3 |
SMART |
ZnF_C2H2
|
160 |
182 |
6.88e-4 |
SMART |
ZnF_C2H2
|
186 |
208 |
7.26e-3 |
SMART |
ZnF_C2H2
|
214 |
236 |
9.88e-5 |
SMART |
ZnF_C2H2
|
242 |
269 |
6.15e1 |
SMART |
|
Meta Mutation Damage Score |
0.3558 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutations in this gene result in growth retardation and eyelid deformities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
Het |
|
Other mutations in Snai2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01304:Snai2
|
APN |
16 |
14,524,635 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03295:Snai2
|
APN |
16 |
14,524,638 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL03412:Snai2
|
APN |
16 |
14,525,120 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0765:Snai2
|
UTSW |
16 |
14,524,668 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0766:Snai2
|
UTSW |
16 |
14,526,111 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1419:Snai2
|
UTSW |
16 |
14,526,044 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1669:Snai2
|
UTSW |
16 |
14,524,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2096:Snai2
|
UTSW |
16 |
14,524,861 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2496:Snai2
|
UTSW |
16 |
14,523,866 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4682:Snai2
|
UTSW |
16 |
14,526,150 (GRCm39) |
missense |
probably benign |
|
R4832:Snai2
|
UTSW |
16 |
14,524,881 (GRCm39) |
missense |
probably damaging |
0.97 |
R4879:Snai2
|
UTSW |
16 |
14,524,605 (GRCm39) |
missense |
probably benign |
|
R5025:Snai2
|
UTSW |
16 |
14,526,053 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5794:Snai2
|
UTSW |
16 |
14,524,590 (GRCm39) |
missense |
probably benign |
|
R6143:Snai2
|
UTSW |
16 |
14,526,107 (GRCm39) |
nonsense |
probably null |
|
R6980:Snai2
|
UTSW |
16 |
14,526,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7096:Snai2
|
UTSW |
16 |
14,525,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7121:Snai2
|
UTSW |
16 |
14,524,970 (GRCm39) |
missense |
probably benign |
0.00 |
R7501:Snai2
|
UTSW |
16 |
14,524,754 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8160:Snai2
|
UTSW |
16 |
14,524,668 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8957:Snai2
|
UTSW |
16 |
14,526,113 (GRCm39) |
missense |
probably damaging |
0.97 |
R9024:Snai2
|
UTSW |
16 |
14,524,769 (GRCm39) |
missense |
probably benign |
|
R9201:Snai2
|
UTSW |
16 |
14,524,632 (GRCm39) |
missense |
probably benign |
0.37 |
R9207:Snai2
|
UTSW |
16 |
14,524,946 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9228:Snai2
|
UTSW |
16 |
14,524,792 (GRCm39) |
missense |
probably damaging |
0.96 |
R9267:Snai2
|
UTSW |
16 |
14,525,120 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9405:Snai2
|
UTSW |
16 |
14,524,589 (GRCm39) |
missense |
probably benign |
0.11 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGAAATCTGAACCTCTTGG -3'
(R):5'- AGACTGCAAGGACAGTTTTGG -3'
Sequencing Primer
(F):5'- AAATCTGAACCTCTTGGCTGTG -3'
(R):5'- CTGCAAGGACAGTTTTGGCACAG -3'
|
Posted On |
2015-01-23 |