Incidental Mutation 'R5794:Snai2'
| ID |
447142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snai2
|
| Ensembl Gene |
ENSMUSG00000022676 |
| Gene Name |
snail family zinc finger 2 |
| Synonyms |
Slugh, Snail2, Slug |
| MMRRC Submission |
043385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
R5794 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
14523716-14527249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14524590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 32
(Y32F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023356]
|
| AlphaFold |
P97469 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023356
AA Change: Y32F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: Y32F
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,955 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
| Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
| Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
| Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
| Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
| Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
| Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
| Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
| Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
| Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
| Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
| Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
| Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
| Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
| Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
| Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
| Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
| Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
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 |
|
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'- GAAGGGAAGACTTTATGTGTGTCC -3'
(R):5'- GGGACTTTCTGAACCACTGTG -3'
Sequencing Primer
(F):5'- CCTGTGAGTAAGGCTGTCTTCAC -3'
(R):5'- ACCACTGTGATCCTTGGATGAAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation