Incidental Mutation 'IGL01673:Nfyc'
ID |
103571 |
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: 0.971)
|
Stock # |
IGL01673
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120614635-120688769 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 120636307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043429]
[ENSMUST00000097906]
[ENSMUST00000118902]
[ENSMUST00000120779]
[ENSMUST00000134979]
[ENSMUST00000136236]
[ENSMUST00000145658]
|
AlphaFold |
P70353 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043429
|
SMART Domains |
Protein: ENSMUSP00000047441 Gene: ENSMUSG00000032897
Domain | Start | End | E-Value | Type |
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: ENSMUST00000097906
|
SMART Domains |
Protein: ENSMUSP00000095516 Gene: ENSMUSG00000032897
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000118902
|
SMART Domains |
Protein: ENSMUSP00000112610 Gene: ENSMUSG00000032897
Domain | Start | End | E-Value | Type |
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: ENSMUST00000120779
|
SMART Domains |
Protein: ENSMUSP00000112810 Gene: ENSMUSG00000032897
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000136236
|
SMART Domains |
Protein: ENSMUSP00000117646 Gene: ENSMUSG00000032897
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
Ddx46 |
G |
T |
13: 55,800,861 (GRCm39) |
V339F |
probably damaging |
Het |
Gpn1 |
T |
G |
5: 31,652,179 (GRCm39) |
C21W |
probably damaging |
Het |
Gpr63 |
A |
T |
4: 25,008,014 (GRCm39) |
Q246L |
probably benign |
Het |
Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
Krtap9-5 |
A |
T |
11: 99,840,377 (GRCm39) |
*359C |
probably null |
Het |
Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,283,641 (GRCm39) |
Q108R |
probably damaging |
Het |
Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
possibly damaging |
Het |
|
Other mutations in Nfyc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00837:Nfyc
|
APN |
4 |
120,638,744 (GRCm39) |
intron |
probably benign |
|
IGL01522:Nfyc
|
APN |
4 |
120,638,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03197:Nfyc
|
APN |
4 |
120,630,958 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Nfyc
|
UTSW |
4 |
120,647,688 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0638:Nfyc
|
UTSW |
4 |
120,626,081 (GRCm39) |
missense |
probably benign |
0.19 |
R0725:Nfyc
|
UTSW |
4 |
120,625,931 (GRCm39) |
unclassified |
probably benign |
|
R0842:Nfyc
|
UTSW |
4 |
120,616,574 (GRCm39) |
missense |
probably benign |
0.16 |
R1480:Nfyc
|
UTSW |
4 |
120,625,921 (GRCm39) |
critical splice donor site |
probably null |
|
R1535:Nfyc
|
UTSW |
4 |
120,618,921 (GRCm39) |
missense |
probably damaging |
0.99 |
R1940:Nfyc
|
UTSW |
4 |
120,630,861 (GRCm39) |
splice site |
probably benign |
|
R3753:Nfyc
|
UTSW |
4 |
120,622,527 (GRCm39) |
unclassified |
probably benign |
|
R5605:Nfyc
|
UTSW |
4 |
120,647,686 (GRCm39) |
splice site |
probably benign |
|
R6047:Nfyc
|
UTSW |
4 |
120,636,314 (GRCm39) |
splice site |
probably null |
|
R7545:Nfyc
|
UTSW |
4 |
120,630,966 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8479:Nfyc
|
UTSW |
4 |
120,626,089 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Nfyc
|
UTSW |
4 |
120,647,684 (GRCm39) |
splice site |
probably benign |
|
Z1177:Nfyc
|
UTSW |
4 |
120,647,663 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-01-21 |