Incidental Mutation 'R9279:Snai3'
ID 703503
Institutional Source Beutler Lab
Gene Symbol Snai3
Ensembl Gene ENSMUSG00000006587
Gene Name snail family zinc finger 3
Synonyms Snail-related gene from muscle cells, Smuc, Zfp293
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9279 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 123180947-123187472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123183038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 169 (H169R)
Ref Sequence ENSEMBL: ENSMUSP00000006762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006762] [ENSMUST00000127664]
AlphaFold Q9QY31
Predicted Effect possibly damaging
Transcript: ENSMUST00000006762
AA Change: H169R

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006762
Gene: ENSMUSG00000006587
AA Change: H169R

DomainStartEndE-ValueType
ZnF_C2H2 147 169 1.07e0 SMART
ZnF_C2H2 178 200 4.87e-4 SMART
ZnF_C2H2 204 226 1.1e-2 SMART
ZnF_C2H2 232 254 2.12e-4 SMART
ZnF_C2H2 260 280 3.56e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Meta Mutation Damage Score 0.2900 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr7a5 A T 4: 139,044,079 (GRCm39) H225L possibly damaging Het
Arhgap32 C A 9: 32,168,655 (GRCm39) H879Q probably benign Het
Axin2 A G 11: 108,833,128 (GRCm39) I438V possibly damaging Het
Btbd18 T A 2: 84,491,920 (GRCm39) C34S probably damaging Het
Carns1 G T 19: 4,216,256 (GRCm39) T642N possibly damaging Het
Casp8 T C 1: 58,883,542 (GRCm39) I283T probably benign Het
Ccdc136 T A 6: 29,421,982 (GRCm39) probably benign Het
Ccnk C A 12: 108,161,946 (GRCm39) Q284K unknown Het
Ceacam12 T A 7: 17,801,177 (GRCm39) L52H probably damaging Het
Cit G A 5: 116,065,970 (GRCm39) D540N probably damaging Het
Cntnap1 T C 11: 101,072,121 (GRCm39) V458A probably damaging Het
Col6a5 T A 9: 105,758,976 (GRCm39) I2077F probably damaging Het
Dnah2 T C 11: 69,409,104 (GRCm39) K425E probably benign Het
Eya2 A G 2: 165,529,631 (GRCm39) S125G probably benign Het
Gabrg1 T G 5: 70,934,599 (GRCm39) M260L probably benign Het
Greb1 T C 12: 16,732,153 (GRCm39) S1603G probably damaging Het
Isx A G 8: 75,600,434 (GRCm39) T56A probably benign Het
Kif2b A T 11: 91,467,975 (GRCm39) S103T probably benign Het
Krtap26-1 T C 16: 88,444,342 (GRCm39) H93R probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mdm4 G A 1: 132,924,416 (GRCm39) T236M probably damaging Het
Mgat5 T A 1: 127,325,348 (GRCm39) L405Q probably damaging Het
Msantd1 A G 5: 35,080,885 (GRCm39) I272V probably benign Het
Ocstamp A G 2: 165,237,768 (GRCm39) *499Q probably null Het
Or11h6 A G 14: 50,880,493 (GRCm39) K252E possibly damaging Het
Or1e16 G A 11: 73,279,789 (GRCm39) P21L probably benign Het
Or2n1d G A 17: 38,646,414 (GRCm39) R122Q probably damaging Het
Or4c100 A G 2: 88,356,211 (GRCm39) M95V probably benign Het
Or5b12 A T 19: 12,897,309 (GRCm39) Y121* probably null Het
Pcdh15 T A 10: 74,461,756 (GRCm39) probably benign Het
Pkdrej C T 15: 85,700,834 (GRCm39) G1701S probably damaging Het
Ppp1r9a A G 6: 5,113,757 (GRCm39) T754A probably damaging Het
Prss8 C A 7: 127,527,082 (GRCm39) Q55H probably damaging Het
Psg20 G T 7: 18,416,670 (GRCm39) R149S probably benign Het
Ptprz1 T G 6: 23,002,444 (GRCm39) N1511K probably benign Het
Rbbp8nl C T 2: 179,920,894 (GRCm39) probably null Het
Sgk2 A G 2: 162,854,975 (GRCm39) D362G probably benign Het
Sim1 T C 10: 50,859,796 (GRCm39) Y553H probably damaging Het
Sipa1l2 T C 8: 126,208,896 (GRCm39) D504G probably damaging Het
Smad7 T C 18: 75,502,547 (GRCm39) V174A possibly damaging Het
Smarcc1 T A 9: 109,996,792 (GRCm39) N303K possibly damaging Het
Tecpr2 T A 12: 110,895,505 (GRCm39) S331T possibly damaging Het
Tenm2 G A 11: 35,959,303 (GRCm39) T1082I probably benign Het
Tle4 A T 19: 14,429,890 (GRCm39) I627N probably damaging Het
Tnxb A T 17: 34,898,088 (GRCm39) N912I possibly damaging Het
Ube2q2l A G 6: 136,377,978 (GRCm39) V284A probably damaging Het
Vmn1r238 A T 18: 3,122,994 (GRCm39) V140E probably damaging Het
Vmn1r65 G A 7: 6,011,988 (GRCm39) T82I probably benign Het
Vps13b A G 15: 35,572,290 (GRCm39) K969R probably damaging Het
Zfp943 A G 17: 22,209,832 (GRCm39) R35G possibly damaging Het
Other mutations in Snai3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:Snai3 APN 8 123,182,861 (GRCm39) critical splice donor site probably null
PIT4418001:Snai3 UTSW 8 123,183,073 (GRCm39) missense probably benign 0.00
R0648:Snai3 UTSW 8 123,181,733 (GRCm39) missense probably damaging 1.00
R1188:Snai3 UTSW 8 123,181,701 (GRCm39) missense probably damaging 1.00
R4990:Snai3 UTSW 8 123,183,071 (GRCm39) missense possibly damaging 0.52
R4992:Snai3 UTSW 8 123,183,071 (GRCm39) missense possibly damaging 0.52
R5729:Snai3 UTSW 8 123,181,629 (GRCm39) missense probably benign 0.01
R6830:Snai3 UTSW 8 123,183,212 (GRCm39) missense probably damaging 1.00
R8499:Snai3 UTSW 8 123,183,144 (GRCm39) missense probably benign 0.07
X0013:Snai3 UTSW 8 123,181,686 (GRCm39) missense probably damaging 0.97
Z1177:Snai3 UTSW 8 123,182,972 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTCTCTGGGACGGCAATAC -3'
(R):5'- TCTTAAAGACAGCTTCACTCTACCC -3'

Sequencing Primer
(F):5'- CTCCTACCTGTATGGGTGCG -3'
(R):5'- TACCCCCGCTGTTGGTG -3'
Posted On 2022-03-25