Incidental Mutation 'IGL03295:Snai2'
| ID |
416041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snai2
|
| Ensembl Gene |
ENSMUSG00000022676 |
| Gene Name |
snail family zinc finger 2 |
| Synonyms |
Slugh, Snail2, Slug |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
14523716-14527249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14524638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023356]
|
| AlphaFold |
P97469 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023356
AA Change: L48P
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: L48P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
| Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation