Incidental Mutation 'IGL03274:Nfya'
ID |
415363 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfya
|
Ensembl Gene |
ENSMUSG00000023994 |
Gene Name |
nuclear transcription factor-Y alpha |
Synonyms |
Sez10, Cbf-b |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03274
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48698375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 162
(Y162H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161256]
[ENSMUST00000162460]
[ENSMUST00000161117]
|
AlphaFold |
P23708 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046719
AA Change: Y298H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043909 Gene: ENSMUSG00000023994 AA Change: Y298H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
low complexity region
|
99 |
167 |
N/A |
INTRINSIC |
low complexity region
|
205 |
223 |
N/A |
INTRINSIC |
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
CBF
|
260 |
321 |
3.92e-35 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078800
AA Change: Y297H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077853 Gene: ENSMUSG00000023994 AA Change: Y297H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
low complexity region
|
38 |
57 |
N/A |
INTRINSIC |
low complexity region
|
98 |
166 |
N/A |
INTRINSIC |
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
CBF
|
259 |
320 |
3.92e-35 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159063
AA Change: Y263H
|
SMART Domains |
Protein: ENSMUSP00000124404 Gene: ENSMUSG00000023994 AA Change: Y263H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
low complexity region
|
70 |
138 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
191 |
205 |
N/A |
INTRINSIC |
CBF
|
225 |
286 |
3.92e-35 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159237
AA Change: Y158H
|
SMART Domains |
Protein: ENSMUSP00000124115 Gene: ENSMUSG00000023994 AA Change: Y158H
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
84 |
N/A |
INTRINSIC |
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
CBF
|
121 |
182 |
3.92e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159535
|
SMART Domains |
Protein: ENSMUSP00000124501 Gene: ENSMUSG00000023994
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
internal_repeat_1
|
57 |
82 |
3.82e-6 |
PROSPERO |
internal_repeat_1
|
74 |
95 |
3.82e-6 |
PROSPERO |
low complexity region
|
97 |
165 |
N/A |
INTRINSIC |
low complexity region
|
197 |
215 |
N/A |
INTRINSIC |
low complexity region
|
218 |
232 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160319
AA Change: Y292H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124245 Gene: ENSMUSG00000023994 AA Change: Y292H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
37 |
N/A |
INTRINSIC |
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
low complexity region
|
99 |
167 |
N/A |
INTRINSIC |
low complexity region
|
199 |
217 |
N/A |
INTRINSIC |
low complexity region
|
220 |
234 |
N/A |
INTRINSIC |
CBF
|
254 |
315 |
3.92e-35 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160804
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161256
AA Change: Y162H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125034 Gene: ENSMUSG00000023994 AA Change: Y162H
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
CBF
|
124 |
185 |
9.8e-38 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162460
AA Change: Y269H
|
SMART Domains |
Protein: ENSMUSP00000123785 Gene: ENSMUSG00000023994 AA Change: Y269H
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
low complexity region
|
70 |
138 |
N/A |
INTRINSIC |
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
CBF
|
231 |
292 |
3.92e-35 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161117
|
SMART Domains |
Protein: ENSMUSP00000124965 Gene: ENSMUSG00000023994
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
internal_repeat_1
|
24 |
49 |
2.33e-5 |
PROSPERO |
internal_repeat_1
|
41 |
62 |
2.33e-5 |
PROSPERO |
low complexity region
|
64 |
132 |
N/A |
INTRINSIC |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
191 |
205 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Inactivation of this locus impairs development and results in embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
Het |
|
Other mutations in Nfya |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02127:Nfya
|
APN |
17 |
48,700,283 (GRCm39) |
unclassified |
probably benign |
|
IGL02348:Nfya
|
APN |
17 |
48,700,304 (GRCm39) |
nonsense |
probably null |
|
IGL03220:Nfya
|
APN |
17 |
48,707,521 (GRCm39) |
missense |
possibly damaging |
0.66 |
PIT4468001:Nfya
|
UTSW |
17 |
48,702,805 (GRCm39) |
missense |
unknown |
|
R0147:Nfya
|
UTSW |
17 |
48,706,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0148:Nfya
|
UTSW |
17 |
48,706,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0904:Nfya
|
UTSW |
17 |
48,702,815 (GRCm39) |
nonsense |
probably null |
|
R1484:Nfya
|
UTSW |
17 |
48,700,570 (GRCm39) |
unclassified |
probably benign |
|
R4105:Nfya
|
UTSW |
17 |
48,699,912 (GRCm39) |
nonsense |
probably null |
|
R4108:Nfya
|
UTSW |
17 |
48,699,912 (GRCm39) |
nonsense |
probably null |
|
R4109:Nfya
|
UTSW |
17 |
48,699,912 (GRCm39) |
nonsense |
probably null |
|
R4923:Nfya
|
UTSW |
17 |
48,707,563 (GRCm39) |
utr 5 prime |
probably benign |
|
R5411:Nfya
|
UTSW |
17 |
48,699,046 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6299:Nfya
|
UTSW |
17 |
48,699,938 (GRCm39) |
intron |
probably benign |
|
R6846:Nfya
|
UTSW |
17 |
48,702,715 (GRCm39) |
missense |
probably benign |
0.04 |
R6967:Nfya
|
UTSW |
17 |
48,699,932 (GRCm39) |
intron |
probably benign |
|
R7027:Nfya
|
UTSW |
17 |
48,696,340 (GRCm39) |
missense |
probably benign |
0.00 |
R7634:Nfya
|
UTSW |
17 |
48,699,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R8377:Nfya
|
UTSW |
17 |
48,699,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8460:Nfya
|
UTSW |
17 |
48,698,974 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8501:Nfya
|
UTSW |
17 |
48,706,017 (GRCm39) |
missense |
unknown |
|
R8726:Nfya
|
UTSW |
17 |
48,699,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R8935:Nfya
|
UTSW |
17 |
48,700,294 (GRCm39) |
unclassified |
probably benign |
|
R8950:Nfya
|
UTSW |
17 |
48,700,489 (GRCm39) |
unclassified |
probably benign |
|
R9252:Nfya
|
UTSW |
17 |
48,699,943 (GRCm39) |
missense |
|
|
R9321:Nfya
|
UTSW |
17 |
48,707,494 (GRCm39) |
missense |
unknown |
|
Z1177:Nfya
|
UTSW |
17 |
48,700,541 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2016-08-02 |