Incidental Mutation 'R0904:Nfya'
| ID |
83267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
039062-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 48702815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 29
(Q29*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000162460]
[ENSMUST00000161256]
|
| AlphaFold |
P23708 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046719
AA Change: Q58*
|
| SMART Domains |
Protein: ENSMUSP00000043909
Gene: ENSMUSG00000023994
AA Change: Q58*
| 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 null
Transcript: ENSMUST00000078800
AA Change: Q57*
|
| SMART Domains |
Protein: ENSMUSP00000077853
Gene: ENSMUSG00000023994
AA Change: Q57*
| 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 null
Transcript: ENSMUST00000159063
AA Change: Q29*
|
| SMART Domains |
Protein: ENSMUSP00000124404
Gene: ENSMUSG00000023994
AA Change: Q29*
| 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 benign
Transcript: ENSMUST00000159237
|
| SMART Domains |
Protein: ENSMUSP00000124115
Gene: ENSMUSG00000023994
| 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 null
Transcript: ENSMUST00000159535
AA Change: Q56*
|
| SMART Domains |
Protein: ENSMUSP00000124501
Gene: ENSMUSG00000023994
AA Change: Q56*
| 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 null
Transcript: ENSMUST00000160319
AA Change: Q58*
|
| SMART Domains |
Protein: ENSMUSP00000124245
Gene: ENSMUSG00000023994
AA Change: Q58*
| 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 null
Transcript: ENSMUST00000161117
AA Change: Q23*
|
| SMART Domains |
Protein: ENSMUSP00000124965
Gene: ENSMUSG00000023994
AA Change: Q23*
| 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 null
Transcript: ENSMUST00000162460
AA Change: Q29*
|
| SMART Domains |
Protein: ENSMUSP00000123785
Gene: ENSMUSG00000023994
AA Change: Q29*
| 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: ENSMUST00000163066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161603
|
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
| Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
| Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
| Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
C |
G |
11: 97,555,824 (GRCm39) |
C51W |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
| Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
| Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
| Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
| Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
| Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
| Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
| Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTCACCTGCTGTAAACCTTG -3'
(R):5'- ACCTTTGACTATCCAGCTTGGCAC -3'
Sequencing Primer
(F):5'- GCTGTAAACCTTGTGTTCCAGAC -3'
(R):5'- ttgggaggcagagggag -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation