Incidental Mutation 'R6047:Nfyc'
| ID |
506158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfyc
|
| Ensembl Gene |
ENSMUSG00000032897 |
| Gene Name |
nuclear transcription factor-Y gamma |
| Synonyms |
|
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120614635-120688769 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 120636314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043429]
[ENSMUST00000097906]
[ENSMUST00000118902]
[ENSMUST00000120779]
[ENSMUST00000134979]
[ENSMUST00000136236]
[ENSMUST00000145658]
|
| AlphaFold |
P70353 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably 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 |
|
IGL01673:Nfyc
|
APN |
4 |
120,636,307 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATGGAGGTGCACCAAGTAAAG -3'
(R):5'- GGCTTGAACGCTTTATCTGG -3'
Sequencing Primer
(F):5'- AGAGTGTGCTCCATCACTAAGCTG -3'
(R):5'- GTGGTTAACAGTGCAGGCCTAC -3'
|
| Posted On |
2018-03-01 |
Incidental Mutation