Incidental Mutation 'IGL01522:Nfyc'
ID 89423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfyc
Ensembl Gene ENSMUSG00000032897
Gene Name nuclear transcription factor-Y gamma
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # IGL01522
Quality Score
Status
Chromosome 4
Chromosomal Location 120757438-120831572 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120781524 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 42 (E42G)
Ref Sequence ENSEMBL: ENSMUSP00000117646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043429] [ENSMUST00000097906] [ENSMUST00000118902] [ENSMUST00000120779] [ENSMUST00000134979] [ENSMUST00000136236] [ENSMUST00000145658]
AlphaFold P70353
Predicted Effect unknown
Transcript: ENSMUST00000043429
AA Change: E42G
SMART Domains Protein: ENSMUSP00000047441
Gene: ENSMUSG00000032897
AA Change: E42G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Histone 36 107 2.5e-13 PFAM
Pfam:CBFD_NFYB_HMF 41 105 4.5e-23 PFAM
low complexity region 150 190 N/A INTRINSIC
low complexity region 193 231 N/A INTRINSIC
low complexity region 275 297 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000097906
AA Change: E42G
SMART Domains Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897
AA Change: E42G

DomainStartEndE-ValueType
Pfam:Histone 9 107 7.2e-17 PFAM
Pfam:CBFD_NFYB_HMF 41 105 7.8e-23 PFAM
low complexity region 150 190 N/A INTRINSIC
low complexity region 193 231 N/A INTRINSIC
low complexity region 275 297 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000118902
AA Change: E42G
SMART Domains Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897
AA Change: E42G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Histone 36 107 2.5e-13 PFAM
Pfam:CBFD_NFYB_HMF 41 105 4.5e-23 PFAM
low complexity region 150 190 N/A INTRINSIC
low complexity region 193 231 N/A INTRINSIC
low complexity region 275 297 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000120779
AA Change: E42G
SMART Domains Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897
AA Change: E42G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Histone 36 107 2.5e-13 PFAM
Pfam:CBFD_NFYB_HMF 41 105 4.5e-23 PFAM
low complexity region 150 190 N/A INTRINSIC
low complexity region 193 231 N/A INTRINSIC
low complexity region 275 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134979
SMART Domains Protein: ENSMUSP00000114640
Gene: ENSMUSG00000032897

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
PDB:1N1J|B 23 58 8e-9 PDB
low complexity region 88 128 N/A INTRINSIC
low complexity region 132 163 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136236
AA Change: E42G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117646
Gene: ENSMUSG00000032897
AA Change: E42G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:CBFD_NFYB_HMF 41 70 5.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145658
SMART Domains Protein: ENSMUSP00000114591
Gene: ENSMUSG00000032897

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
SCOP:d1b67a_ 25 53 3e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 (GRCm38) probably null Het
Adamts12 T C 15: 11,065,159 (GRCm38) probably null Het
Adamts3 T C 5: 89,702,943 (GRCm38) N579S probably benign Het
Akr1c19 A G 13: 4,239,099 (GRCm38) probably benign Het
Ankrd39 T A 1: 36,542,061 (GRCm38) H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 (GRCm38) M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 (GRCm38) C209Y probably damaging Het
Cep131 T C 11: 120,067,163 (GRCm38) E779G probably benign Het
Cep85 G T 4: 134,152,256 (GRCm38) Q394K probably damaging Het
Cep85 T C 4: 134,152,255 (GRCm38) Q394R probably damaging Het
Clcn6 T C 4: 148,017,535 (GRCm38) Y364C probably benign Het
Fetub G A 16: 22,929,641 (GRCm38) M1I probably null Het
Greb1 T C 12: 16,701,201 (GRCm38) I1003V probably damaging Het
Hsf3 A G X: 96,320,594 (GRCm38) probably benign Het
Jcad A G 18: 4,673,312 (GRCm38) N358S probably damaging Het
Kndc1 T C 7: 139,913,972 (GRCm38) probably benign Het
Lama1 A T 17: 67,752,774 (GRCm38) probably benign Het
Mark2 A G 19: 7,281,238 (GRCm38) V50A probably benign Het
Mmp7 T C 9: 7,692,228 (GRCm38) W35R probably damaging Het
Ndc80 A G 17: 71,499,325 (GRCm38) V578A probably benign Het
Olfr1164 T C 2: 88,093,016 (GRCm38) K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 (GRCm38) L284* probably null Het
Olfr344 A G 2: 36,569,221 (GRCm38) T208A probably benign Het
Olfr547 A T 7: 102,535,184 (GRCm38) I146F probably damaging Het
Olfr935 A T 9: 38,995,100 (GRCm38) C112S probably benign Het
Pcdha11 T C 18: 37,185,008 (GRCm38) F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 (GRCm38) R154S probably benign Het
Pepd T A 7: 34,924,440 (GRCm38) D87E probably benign Het
Pfn4 A G 12: 4,770,240 (GRCm38) T30A probably benign Het
Pgpep1l A G 7: 68,237,708 (GRCm38) M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 (GRCm38) N340S probably benign Het
Plcb4 A G 2: 136,002,627 (GRCm38) D155G probably damaging Het
Plg G A 17: 12,404,069 (GRCm38) G499S probably damaging Het
Plin3 C T 17: 56,280,799 (GRCm38) W305* probably null Het
Polq C A 16: 37,027,903 (GRCm38) L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 (GRCm38) H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 (GRCm38) D276N possibly damaging Het
Syk A G 13: 52,643,061 (GRCm38) T576A probably benign Het
Tas2r119 G A 15: 32,178,193 (GRCm38) V302I probably benign Het
Uso1 T C 5: 92,181,419 (GRCm38) F389L probably damaging Het
Wwc2 T A 8: 47,868,633 (GRCm38) Y482F unknown Het
Other mutations in Nfyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Nfyc APN 4 120,781,547 (GRCm38) intron probably benign
IGL01673:Nfyc APN 4 120,779,110 (GRCm38) unclassified probably benign
IGL03197:Nfyc APN 4 120,773,761 (GRCm38) missense probably damaging 1.00
PIT4378001:Nfyc UTSW 4 120,790,491 (GRCm38) critical splice acceptor site probably null
R0638:Nfyc UTSW 4 120,768,884 (GRCm38) missense probably benign 0.19
R0725:Nfyc UTSW 4 120,768,734 (GRCm38) unclassified probably benign
R0842:Nfyc UTSW 4 120,759,377 (GRCm38) missense probably benign 0.16
R1480:Nfyc UTSW 4 120,768,724 (GRCm38) critical splice donor site probably null
R1535:Nfyc UTSW 4 120,761,724 (GRCm38) missense probably damaging 0.99
R1940:Nfyc UTSW 4 120,773,664 (GRCm38) splice site probably benign
R3753:Nfyc UTSW 4 120,765,330 (GRCm38) unclassified probably benign
R5605:Nfyc UTSW 4 120,790,489 (GRCm38) splice site probably benign
R6047:Nfyc UTSW 4 120,779,117 (GRCm38) splice site probably null
R7545:Nfyc UTSW 4 120,773,769 (GRCm38) critical splice acceptor site probably null
R8479:Nfyc UTSW 4 120,768,892 (GRCm38) missense probably damaging 0.97
Z1176:Nfyc UTSW 4 120,790,487 (GRCm38) splice site probably benign
Z1177:Nfyc UTSW 4 120,790,466 (GRCm38) missense unknown
Posted On 2013-12-03