Incidental Mutation 'R1475:Syf2'
ID 163985
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 039528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134658291-134664848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134662745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 145 (M145K)
Ref Sequence ENSEMBL: ENSMUSP00000030622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030622]
AlphaFold Q9D198
Predicted Effect possibly damaging
Transcript: ENSMUST00000030622
AA Change: M145K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030622
Gene: ENSMUSG00000028821
AA Change: M145K

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 0.7857 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Gaa G A 11: 119,165,142 (GRCm39) probably null Het
Glce T C 9: 61,968,210 (GRCm39) T314A possibly damaging Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Myf5 A G 10: 107,320,515 (GRCm39) V190A probably benign Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8b42 T A 9: 38,342,160 (GRCm39) V194D probably benign Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pgd T C 4: 149,241,232 (GRCm39) T226A probably benign Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null 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
R4673:Syf2 UTSW 4 134,661,804 (GRCm39) missense probably damaging 1.00
R4954:Syf2 UTSW 4 134,662,283 (GRCm39) nonsense probably null
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'- GGCCAAGGAAAGTCCTGTTGACTG -3'
(R):5'- GGGCCTAACGCCTGTTCAATGATG -3'

Sequencing Primer
(F):5'- gtcctgcctcagcctcc -3'
(R):5'- caggacaatgaggcaggag -3'
Posted On 2014-03-28