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)
|
| 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
| 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 |
unknown
Transcript: ENSMUST00000097906
AA Change: E42G
|
| SMART Domains |
Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897
AA Change: E42G
| 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 |
unknown
Transcript: ENSMUST00000118902
AA Change: E42G
|
| SMART Domains |
Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897
AA Change: E42G
| 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 |
unknown
Transcript: ENSMUST00000120779
AA Change: E42G
|
| SMART Domains |
Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897
AA Change: E42G
| 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 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
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation