Incidental Mutation 'R8160:Snai2'
| ID |
633487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snai2
|
| Ensembl Gene |
ENSMUSG00000022676 |
| Gene Name |
snail family zinc finger 2 |
| Synonyms |
Slugh, Snail2, Slug |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
14523716-14527249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14524668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 58
(V58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023356]
|
| AlphaFold |
P97469 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023356
AA Change: V58A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: V58A
| 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 |
0.1011 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
| Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
| Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
| Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
| Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
| Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
| Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
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 |
|
R2901:Snai2
|
UTSW |
16 |
14,523,847 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- ATGGAGTCTCCTGCATGTTG -3'
(R):5'- TCTCAGCTTCGATGGCATGG -3'
Sequencing Primer
(F):5'- CTGCATGTTGTTATGGTCTCTCTCAG -3'
(R):5'- CATGGGGGTCTGAAAGCTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation