Incidental Mutation 'R2496:Snai2'
ID 251233
Institutional Source Beutler Lab
Gene Symbol Snai2
Ensembl Gene ENSMUSG00000022676
Gene Name snail family zinc finger 2
Synonyms Slugh, Snail2, Slug
MMRRC Submission 040410-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.881) question?
Stock # R2496 (G1)
Quality Score 184
Status Not validated
Chromosome 16
Chromosomal Location 14523716-14527249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14523866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 10 (H10L)
Ref Sequence ENSEMBL: ENSMUSP00000023356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023356]
AlphaFold P97469
Predicted Effect possibly damaging
Transcript: ENSMUST00000023356
AA Change: H10L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: H10L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging 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
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'- AGCTGAAATCTGAACCTCTTGGC -3'
(R):5'- GAGACTGCAAGGACAGTTTTG -3'

Sequencing Primer
(F):5'- AAATCTGAACCTCTTGGCTGTGATTG -3'
(R):5'- CTGCAAGGACAGTTTTGGCACAG -3'
Posted On 2014-12-04