Incidental Mutation 'R5206:Snai1'
ID 402020
Institutional Source Beutler Lab
Gene Symbol Snai1
Ensembl Gene ENSMUSG00000042821
Gene Name snail family zinc finger 1
Synonyms Snail, Sna, Snail1, Sna1
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167380115-167384734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167380888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 127 (I127T)
Ref Sequence ENSEMBL: ENSMUSP00000050581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052631]
AlphaFold Q02085
Predicted Effect probably benign
Transcript: ENSMUST00000052631
AA Change: I127T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050581
Gene: ENSMUSG00000042821
AA Change: I127T

DomainStartEndE-ValueType
low complexity region 99 120 N/A INTRINSIC
ZnF_C2H2 154 176 3.16e-3 SMART
ZnF_C2H2 180 202 2.91e-2 SMART
ZnF_C2H2 208 230 2.79e-4 SMART
ZnF_C2H2 236 256 5.68e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120814
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality by E8.5, reduced size, and abnormal mesoderm development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Snai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Snai1 APN 2 167,380,768 (GRCm39) missense probably benign 0.03
R5902:Snai1 UTSW 2 167,383,930 (GRCm39) missense probably damaging 1.00
R6169:Snai1 UTSW 2 167,380,831 (GRCm39) missense probably benign 0.01
R6207:Snai1 UTSW 2 167,380,229 (GRCm39) missense probably damaging 0.97
R7414:Snai1 UTSW 2 167,380,588 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ATCTGGGACTCTCTCCTGGTAC -3'
(R):5'- CAGAGCTCAGCTATGCACACTC -3'

Sequencing Primer
(F):5'- TCCTGGTACCCCAAGTGC -3'
(R):5'- TAGAGAAGGCCTTTCCACAGGTC -3'
Posted On 2016-07-22