Incidental Mutation 'R4105:Nfya'
| ID |
321370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
040985-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 48699912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 37
(Y37*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000162460]
[ENSMUST00000161256]
|
| AlphaFold |
P23708 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046719
|
| SMART Domains |
Protein: ENSMUSP00000043909
Gene: ENSMUSG00000023994
| 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 benign
Transcript: ENSMUST00000078800
|
| SMART Domains |
Protein: ENSMUSP00000077853
Gene: ENSMUSG00000023994
| 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 |
probably benign
Transcript: ENSMUST00000159063
|
| SMART Domains |
Protein: ENSMUSP00000124404
Gene: ENSMUSG00000023994
| 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 |
probably null
Transcript: ENSMUST00000159237
AA Change: Y37*
|
| SMART Domains |
Protein: ENSMUSP00000124115
Gene: ENSMUSG00000023994
AA Change: Y37*
| 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 benign
Transcript: ENSMUST00000160319
|
| SMART Domains |
Protein: ENSMUSP00000124245
Gene: ENSMUSG00000023994
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162460
|
| SMART Domains |
Protein: ENSMUSP00000123785
Gene: ENSMUSG00000023994
| 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 |
probably benign
Transcript: ENSMUST00000161256
|
| SMART Domains |
Protein: ENSMUSP00000125034
Gene: ENSMUSG00000023994
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (46/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,647,401 (GRCm39) |
S127P |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,243 (GRCm39) |
S266G |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,162,603 (GRCm39) |
Y471H |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,039 (GRCm39) |
D329G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,824 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dchs1 |
A |
C |
7: 105,414,347 (GRCm39) |
S823A |
probably damaging |
Het |
| Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
| Eif2b3 |
G |
A |
4: 116,938,831 (GRCm39) |
G427R |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 45,489,888 (GRCm39) |
Y3600C |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,054 (GRCm39) |
F228L |
probably benign |
Het |
| Fgf7 |
T |
A |
2: 125,877,599 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,856 (GRCm39) |
M122L |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,615,388 (GRCm39) |
V73A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,375 (GRCm39) |
H178R |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,229,679 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,953,175 (GRCm39) |
N1581S |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,577,567 (GRCm39) |
T344K |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,462 (GRCm39) |
F514L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,408,828 (GRCm39) |
T1895N |
probably damaging |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,945,075 (GRCm39) |
L150Q |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,950,449 (GRCm39) |
F347S |
probably damaging |
Het |
| Smim13 |
T |
A |
13: 41,426,127 (GRCm39) |
D54E |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,069,936 (GRCm39) |
I1027N |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,265 (GRCm39) |
I429T |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,860,581 (GRCm39) |
R254* |
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,691 (GRCm39) |
V331A |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,265 (GRCm39) |
S82P |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,618,667 (GRCm39) |
L55P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,437 (GRCm39) |
D173G |
probably benign |
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 |
|
IGL03274:Nfya
|
APN |
17 |
48,698,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAAGTGCCTTCTGCTG -3'
(R):5'- TTCCCACCACATCTGCAGTG -3'
Sequencing Primer
(F):5'- CACTGTGTTCTGCTAAGTTCAG -3'
(R):5'- ATCTGCAGTGACCGACCGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation