Incidental Mutation 'R4954:Syf2'
ID 381471
Institutional Source Beutler Lab
Gene Symbol Syf2
Ensembl Gene ENSMUSG00000028821
Gene Name SYF2 homolog, RNA splicing factor (S. cerevisiae)
Synonyms Ntc31, Cbpin, 1110018L13Rik, mp29, D4Bwg1551e, p29, Gcipip
MMRRC Submission 042551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4954 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134658291-134664848 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 134662283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 99 (L99*)
Ref Sequence ENSEMBL: ENSMUSP00000030622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030622]
AlphaFold Q9D198
Predicted Effect probably null
Transcript: ENSMUST00000030622
AA Change: L99*
SMART Domains Protein: ENSMUSP00000030622
Gene: ENSMUSG00000028821
AA Change: L99*

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
Pfam:SYF2 89 237 9.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156334
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo normal gastrulation and exhibit complete embryonic lethality, severely impaired embryonic development, and abnormal cell cycle checkpoint function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Alk C T 17: 72,209,687 (GRCm39) W919* probably null Het
Aoc3 G A 11: 101,222,925 (GRCm39) G387D probably damaging Het
Arhgap26 T A 18: 39,376,694 (GRCm39) C441S probably benign Het
Arhgap28 C A 17: 68,176,008 (GRCm39) E100* probably null Het
Ate1 C T 7: 130,110,748 (GRCm39) G186D probably benign Het
Birc6 T A 17: 74,919,026 (GRCm39) L1948H probably damaging Het
Bmp2k C T 5: 97,234,623 (GRCm39) probably benign Het
Ccin A T 4: 43,985,077 (GRCm39) I495F probably benign Het
Cir1 T A 2: 73,140,848 (GRCm39) E40D probably benign Het
Cyp3a57 A T 5: 145,307,765 (GRCm39) probably null Het
Dennd1b A G 1: 138,981,124 (GRCm39) T113A probably damaging Het
Dnah2 G A 11: 69,430,322 (GRCm39) P79S possibly damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Dync2i1 T C 12: 116,219,645 (GRCm39) D99G probably damaging Het
Enpep A T 3: 129,077,829 (GRCm39) I596N probably damaging Het
Eps15 G A 4: 109,227,875 (GRCm39) probably null Het
Ext1 T C 15: 53,207,888 (GRCm39) D291G probably damaging Het
Gm12883 T C 4: 121,252,198 (GRCm39) noncoding transcript Het
Gm9921 A G 12: 45,484,383 (GRCm39) noncoding transcript Het
H2-T22 C A 17: 36,352,851 (GRCm39) W85C probably damaging Het
Heatr1 G A 13: 12,422,397 (GRCm39) probably null Het
Hspa4l T A 3: 40,739,832 (GRCm39) probably null Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kpna1 T C 16: 35,853,696 (GRCm39) V442A probably damaging Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Musk C T 4: 58,344,222 (GRCm39) T285I probably damaging Het
Myorg G A 4: 41,498,241 (GRCm39) A463V possibly damaging Het
Nbea T G 3: 55,943,379 (GRCm39) Q632P probably damaging Het
Ncoa3 T C 2: 165,907,706 (GRCm39) V1105A probably benign Het
Neb T C 2: 52,067,530 (GRCm39) probably null Het
Nlrp4e A T 7: 23,061,318 (GRCm39) K970* probably null Het
Oog2 A T 4: 143,917,302 (GRCm39) probably benign Het
Or13g1 T C 7: 85,955,809 (GRCm39) I171V probably benign Het
Or2a57 A G 6: 43,213,318 (GRCm39) M259V probably benign Het
Or52a24 A G 7: 103,381,414 (GRCm39) I94V probably damaging Het
Otos T C 1: 92,572,167 (GRCm39) Y53C probably damaging Het
Oxct2a A T 4: 123,216,252 (GRCm39) C376* probably null Het
Pate12 A T 9: 36,344,156 (GRCm39) K46N probably benign Het
Phf14 C A 6: 11,987,619 (GRCm39) Q633K probably benign Het
Pkdrej T A 15: 85,700,602 (GRCm39) N1778I probably damaging Het
Psmc3 C T 2: 90,885,974 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,274 (GRCm39) I177F probably damaging Het
Rps6ka2 A G 17: 7,539,003 (GRCm39) D307G probably benign Het
Rps6ka2 G A 17: 7,566,685 (GRCm39) V648I probably benign Het
Scn11a C T 9: 119,587,725 (GRCm39) V1340M possibly damaging Het
Sema7a T C 9: 57,863,663 (GRCm39) W279R probably damaging Het
Slc2a10 A T 2: 165,356,675 (GRCm39) I112F probably damaging Het
Stk4 C A 2: 163,993,601 (GRCm39) S77R possibly damaging Het
Stk4 T A 2: 163,993,602 (GRCm39) W78R probably damaging Het
Tas2r104 A T 6: 131,661,968 (GRCm39) I247K probably damaging Het
Usp15 G T 10: 122,967,303 (GRCm39) R368S probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r2 T A 3: 64,047,905 (GRCm39) L20F probably benign Het
Zcchc4 A T 5: 52,976,559 (GRCm39) H451L probably damaging Het
Other mutations in Syf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Syf2 APN 4 134,662,363 (GRCm39) splice site probably null
R0839:Syf2 UTSW 4 134,663,374 (GRCm39) missense probably damaging 0.97
R1475:Syf2 UTSW 4 134,662,745 (GRCm39) missense possibly damaging 0.52
R4673:Syf2 UTSW 4 134,661,804 (GRCm39) missense probably damaging 1.00
R5309:Syf2 UTSW 4 134,663,380 (GRCm39) missense probably benign 0.35
R6256:Syf2 UTSW 4 134,661,889 (GRCm39) missense probably damaging 0.98
R8141:Syf2 UTSW 4 134,664,182 (GRCm39) missense probably damaging 1.00
R8334:Syf2 UTSW 4 134,658,586 (GRCm39) missense probably benign 0.16
R9266:Syf2 UTSW 4 134,663,321 (GRCm39) missense possibly damaging 0.55
Z1176:Syf2 UTSW 4 134,664,275 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- AAGCCAAGAAAGCGCGTCTG -3'
(R):5'- GCCTCCTAGAATTCTCCACG -3'

Sequencing Primer
(F):5'- TTGGCAGCGAACACCTGTATC -3'
(R):5'- CGAACAAAGCTCAGCGGATATGC -3'
Posted On 2016-04-27