Incidental Mutation 'R3753:Nfyc'
| ID |
271302 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120614635-120688769 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 120622527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043429]
[ENSMUST00000097906]
[ENSMUST00000118902]
[ENSMUST00000120779]
[ENSMUST00000134979]
[ENSMUST00000136236]
|
| AlphaFold |
P70353 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000043429
AA Change: Q202K
|
| SMART Domains |
Protein: ENSMUSP00000047441
Gene: ENSMUSG00000032897
AA Change: Q202K
| 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 |
noncoding transcript
Transcript: ENSMUST00000083556
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000097906
AA Change: Q202K
|
| SMART Domains |
Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897
AA Change: Q202K
| 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: Q202K
|
| SMART Domains |
Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897
AA Change: Q202K
| 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: Q202K
|
| SMART Domains |
Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897
AA Change: Q202K
| 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 |
noncoding transcript
Transcript: ENSMUST00000127030
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134979
AA Change: Q140K
|
| SMART Domains |
Protein: ENSMUSP00000114640
Gene: ENSMUSG00000032897
AA Change: Q140K
| 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 |
noncoding transcript
Transcript: ENSMUST00000148081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145029
|
| 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 |
|
| Meta Mutation Damage Score |
0.3100 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGACTGAAGCAGAGTAG -3'
(R):5'- GTACAACCATTGGGCTGCATG -3'
Sequencing Primer
(F):5'- TGTGTAATGGGAATACTGACACC -3'
(R):5'- CAACCATTGGGCTGCATGTTAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation