Incidental Mutation 'R5526:Sfn'
ID 431847
Institutional Source Beutler Lab
Gene Symbol Sfn
Ensembl Gene ENSMUSG00000047281
Gene Name stratifin
Synonyms Er, Ywhas, 14-3-3 sigma, MME1, 14-3-3
MMRRC Submission 043084-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R5526 (G1)
Quality Score 182
Status Not validated
Chromosome 4
Chromosomal Location 133327867-133329163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133328915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 56 (R56G)
Ref Sequence ENSEMBL: ENSMUSP00000050374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057311] [ENSMUST00000084238]
AlphaFold O70456
Predicted Effect probably damaging
Transcript: ENSMUST00000057311
AA Change: R56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050374
Gene: ENSMUSG00000047281
AA Change: R56G

DomainStartEndE-ValueType
14_3_3 3 244 1.24e-129 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084238
SMART Domains Protein: ENSMUSP00000081260
Gene: ENSMUSG00000037553

DomainStartEndE-ValueType
low complexity region 10 60 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:zf-DHHC 179 308 1.4e-38 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Nullizygous mice show impaired B-cell homeostasis, BCR signaling, and T cell-independent B-cell responses. Homozygous hypomorphs show altered mammary epithelial morphology. Spontaneous mutants die at birth from respiratory stress with severe anomalies inskin, limbs, tails, face and oral cavity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,331,605 (GRCm39) M1315K probably benign Het
Abcc4 C T 14: 118,868,449 (GRCm39) V168I probably benign Het
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Angpt1 A G 15: 42,375,737 (GRCm39) L173P probably damaging Het
Crls1 T A 2: 132,703,165 (GRCm39) M205K possibly damaging Het
Cspg4b T C 13: 113,504,427 (GRCm39) V1852A probably benign Het
Dhtkd1 A T 2: 5,916,662 (GRCm39) N671K probably damaging Het
Dmbt1 A T 7: 130,642,920 (GRCm39) D246V probably damaging Het
Dolk G A 2: 30,175,820 (GRCm39) A75V probably damaging Het
Dtna T A 18: 23,779,287 (GRCm39) V623E probably damaging Het
Elavl3 T C 9: 21,947,622 (GRCm39) T106A probably benign Het
Ergic1 T C 17: 26,843,652 (GRCm39) C41R probably damaging Het
Fat2 T A 11: 55,160,187 (GRCm39) I3309F possibly damaging Het
Fbn1 C A 2: 125,207,559 (GRCm39) R978L possibly damaging Het
Fzd6 A T 15: 38,894,559 (GRCm39) S242C possibly damaging Het
Galntl6 T A 8: 58,926,004 (GRCm39) H87L probably benign Het
Gatad2a T C 8: 70,388,591 (GRCm39) E32G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm11541 G T 11: 94,594,944 (GRCm39) H41Q unknown Het
Has3 A G 8: 107,600,579 (GRCm39) T14A probably damaging Het
Kmt2b A G 7: 30,279,869 (GRCm39) L1377P probably damaging Het
Lcorl T C 5: 45,891,069 (GRCm39) N428S probably benign Het
Lipo5 A T 19: 33,445,284 (GRCm39) V95D unknown Het
Lrp1 A T 10: 127,391,593 (GRCm39) V2942D probably benign Het
Map1a T C 2: 121,136,143 (GRCm39) S2082P probably damaging Het
Mast4 T C 13: 102,890,723 (GRCm39) S852G possibly damaging Het
Mlh3 A T 12: 85,316,147 (GRCm39) L13* probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nlrp9c T A 7: 26,081,791 (GRCm39) N645I possibly damaging Het
Or12d17 T A 17: 37,778,003 (GRCm39) L302Q unknown Het
Or12e7 T C 2: 87,288,109 (GRCm39) I200T probably benign Het
Or14j7 T A 17: 38,235,383 (GRCm39) *309K probably null Het
Or7e166 C A 9: 19,624,994 (GRCm39) Y290* probably null Het
Or8g52 A T 9: 39,630,892 (GRCm39) Y123F possibly damaging Het
Pex12 A G 11: 83,187,090 (GRCm39) V286A possibly damaging Het
Phax C T 18: 56,717,382 (GRCm39) T275I probably damaging Het
Phf21b A G 15: 84,676,006 (GRCm39) V335A probably benign Het
Psg18 A T 7: 18,083,273 (GRCm39) L173H probably damaging Het
Rab3ip T C 10: 116,754,834 (GRCm39) T209A possibly damaging Het
Ralgapb T C 2: 158,274,705 (GRCm39) V202A probably damaging Het
Rpn2 T C 2: 157,165,187 (GRCm39) L611P probably damaging Het
Runx2 T G 17: 45,035,749 (GRCm39) T148P probably damaging Het
Sbpl C A 17: 24,173,623 (GRCm39) D50Y probably damaging Het
Scn5a G A 9: 119,350,237 (GRCm39) P879L probably damaging Het
Spata31g1 T C 4: 42,972,125 (GRCm39) V486A possibly damaging Het
Tas2r138 C T 6: 40,589,914 (GRCm39) A111T probably benign Het
Tasp1 A T 2: 139,850,709 (GRCm39) S105T probably damaging Het
Tmem225 T G 9: 40,062,002 (GRCm39) H205Q possibly damaging Het
Tmprss7 A G 16: 45,481,267 (GRCm39) S640P probably damaging Het
Utp4 G A 8: 107,644,265 (GRCm39) A535T possibly damaging Het
Vmn1r203 A T 13: 22,708,273 (GRCm39) D18V probably benign Het
Vmn2r58 A G 7: 41,522,069 (GRCm39) L9P probably benign Het
Zcchc2 T A 1: 105,957,984 (GRCm39) C420* probably null Het
Zfp804a A G 2: 82,088,934 (GRCm39) D921G probably benign Het
Other mutations in Sfn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02185:Sfn APN 4 133,328,636 (GRCm39) missense probably benign 0.16
R1775:Sfn UTSW 4 133,328,542 (GRCm39) missense probably damaging 0.99
R2040:Sfn UTSW 4 133,328,603 (GRCm39) missense probably benign 0.03
R4763:Sfn UTSW 4 133,328,656 (GRCm39) missense probably benign 0.04
R5430:Sfn UTSW 4 133,328,938 (GRCm39) missense probably damaging 1.00
R5684:Sfn UTSW 4 133,328,603 (GRCm39) nonsense probably null
R7605:Sfn UTSW 4 133,328,548 (GRCm39) missense probably damaging 0.96
R9783:Sfn UTSW 4 133,329,128 (GRCm39) unclassified probably benign
X0064:Sfn UTSW 4 133,328,596 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TCTCCAGCCCCTTTGATGAG -3'
(R):5'- CAGAACCCAGCGTTACTCTC -3'

Sequencing Primer
(F):5'- CCCCTTTGATGAGGTGCGAG -3'
(R):5'- GTTACTCTCGAGACAGCCAGTTCG -3'
Posted On 2016-10-05