Incidental Mutation 'R8141:Syf2'
ID 632528
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 067569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8141 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134658291-134664848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134664182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 199 (R199C)
Ref Sequence ENSEMBL: ENSMUSP00000030622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030622]
AlphaFold Q9D198
Predicted Effect probably damaging
Transcript: ENSMUST00000030622
AA Change: R199C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030622
Gene: ENSMUSG00000028821
AA Change: R199C

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 90.7%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,688 (GRCm39) T229A probably benign Het
4930438A08Rik A G 11: 58,177,411 (GRCm39) E40G Het
Actn2 T C 13: 12,303,516 (GRCm39) D428G probably damaging Het
Arl14epl C A 18: 47,059,410 (GRCm39) N8K probably benign Het
Bend7 T C 2: 4,757,636 (GRCm39) V226A probably benign Het
C1s1 A T 6: 124,508,321 (GRCm39) L556Q probably damaging Het
Casr T C 16: 36,315,173 (GRCm39) K966E probably damaging Het
Ccm2l T C 2: 152,912,791 (GRCm39) L110P probably damaging Het
Cdhr4 G A 9: 107,873,991 (GRCm39) R59H Het
Celf3 C A 3: 94,395,850 (GRCm39) N410K probably damaging Het
Cfap251 T G 5: 123,424,493 (GRCm39) V726G possibly damaging Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Fam53b A C 7: 132,361,758 (GRCm39) V90G probably damaging Het
Fat3 T A 9: 15,908,362 (GRCm39) I2547F possibly damaging Het
Foxk1 A G 5: 142,439,716 (GRCm39) Y524C probably damaging Het
Gpr87 A G 3: 59,087,020 (GRCm39) S162P probably damaging Het
Ifi204 A G 1: 173,583,189 (GRCm39) V343A possibly damaging Het
Igsf10 A G 3: 59,237,949 (GRCm39) L744P probably damaging Het
Iqub T A 6: 24,491,608 (GRCm39) K359N probably benign Het
Kdm3b A T 18: 34,961,599 (GRCm39) K1459* probably null Het
Kirrel1 C T 3: 86,993,735 (GRCm39) W507* probably null Het
Klra17 T C 6: 129,849,292 (GRCm39) D94G probably damaging Het
Llgl1 G C 11: 60,601,142 (GRCm39) E693D probably benign Het
Lrrc37 T C 11: 103,511,855 (GRCm39) T38A unknown Het
Lypd4 A T 7: 24,564,254 (GRCm39) D201E possibly damaging Het
Nin A G 12: 70,076,795 (GRCm39) S1794P Het
Oog2 T C 4: 143,920,777 (GRCm39) L70P probably damaging Het
Or6n2 T C 1: 173,897,488 (GRCm39) L208P probably damaging Het
Pacsin1 G T 17: 27,926,034 (GRCm39) R282S possibly damaging Het
Pcdhb9 T A 18: 37,535,361 (GRCm39) Y452N probably damaging Het
Pdgfra T C 5: 75,338,387 (GRCm39) V547A possibly damaging Het
Plcb4 T C 2: 135,781,169 (GRCm39) F209L probably damaging Het
Pnpla6 T C 8: 3,571,384 (GRCm39) S158P probably benign Het
Prlhr C G 19: 60,455,747 (GRCm39) R273P probably damaging Het
Prss41 G A 17: 24,056,607 (GRCm39) P196L probably damaging Het
Ptgr3 T C 18: 84,112,651 (GRCm39) L109P probably benign Het
Ptpn22 A G 3: 103,793,643 (GRCm39) E598G possibly damaging Het
Rasal2 T C 1: 156,992,240 (GRCm39) D569G possibly damaging Het
Sf3b3 A C 8: 111,547,483 (GRCm39) M715R possibly damaging Het
Ska1 T C 18: 74,339,907 (GRCm39) N13S probably benign Het
Spocd1 A C 4: 129,823,497 (GRCm39) E98A Het
Sycp1 G T 3: 102,842,885 (GRCm39) A28E possibly damaging Het
Syne2 A G 12: 76,108,442 (GRCm39) D942G possibly damaging Het
Tamalin T A 15: 101,129,790 (GRCm39) C358S possibly damaging Het
Tmem63a A G 1: 180,801,776 (GRCm39) T764A probably benign Het
Ttf1 C T 2: 28,957,238 (GRCm39) Q503* probably null Het
Usp13 T C 3: 32,949,025 (GRCm39) V454A possibly damaging Het
Usp47 A G 7: 111,652,472 (GRCm39) T50A possibly damaging Het
Zfyve26 A T 12: 79,315,331 (GRCm39) C1382S possibly 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
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
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'- ATCAGAGAAGGCAGTTCAGACC -3'
(R):5'- CCACGAGGGAGGTTGAATTTG -3'

Sequencing Primer
(F):5'- CCAGAAGGTGGTTGAACGCC -3'
(R):5'- TTGAATTTGCCAGCAGAAGCCTC -3'
Posted On 2020-06-30