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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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