Incidental Mutation 'R1419:Snai2'
ID |
160008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snai2
|
Ensembl Gene |
ENSMUSG00000022676 |
Gene Name |
snail family zinc finger 2 |
Synonyms |
Slugh, Snail2, Slug |
MMRRC Submission |
039475-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.881)
|
Stock # |
R1419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
14523716-14527249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14526044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 232
(H232Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023356]
|
AlphaFold |
P97469 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023356
AA Change: H232Y
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023356 Gene: ENSMUSG00000022676 AA Change: H232Y
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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAACGGAAGCTGTTTGGCTGATA -3'
(R):5'- GGTTTGGCAGCAGTGTAAATCTCTGTA -3'
Sequencing Primer
(F):5'- TAACTGGGGGTTGATATGATCAAGC -3'
(R):5'- ctctctctctctctctctctctc -3'
|
Posted On |
2014-03-14 |