Incidental Mutation 'R0842:Nfyc'
| ID |
77201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfyc
|
| Ensembl Gene |
ENSMUSG00000032897 |
| Gene Name |
nuclear transcription factor-Y gamma |
| Synonyms |
|
| MMRRC Submission |
039021-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R0842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
120614635-120688769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120616574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 281
(E281D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043429]
[ENSMUST00000097906]
[ENSMUST00000118902]
[ENSMUST00000120779]
|
| AlphaFold |
P70353 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043429
AA Change: E281D
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047441
Gene: ENSMUSG00000032897
AA Change: E281D
| 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
AA Change: E281D
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897
AA Change: E281D
| 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
AA Change: E281D
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897
AA Change: E281D
| 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
AA Change: E281D
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897
AA Change: E281D
| 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 |
noncoding transcript
Transcript: ENSMUST00000145029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148081
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
| Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
| Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
| Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
| Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
| Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
| Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
| Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
| Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
| Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
| Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGGTCACTCCCTGAAGAATG -3'
(R):5'- TGTGTGGAGCCAGATCTTTGCTAAC -3'
Sequencing Primer
(F):5'- gtcactccctgaagaatggtaatTTG -3'
(R):5'- CTTTGCTAACCCTAAGTGGAAGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation