Incidental Mutation 'R8501:Nfya'
| ID |
655345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
067838-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48706017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 52
(L52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000162460]
|
| AlphaFold |
P23708 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046719
AA Change: L52P
|
| SMART Domains |
Protein: ENSMUSP00000043909
Gene: ENSMUSG00000023994
AA Change: L52P
| 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 |
unknown
Transcript: ENSMUST00000078800
AA Change: L51P
|
| SMART Domains |
Protein: ENSMUSP00000077853
Gene: ENSMUSG00000023994
AA Change: L51P
| 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 damaging
Transcript: ENSMUST00000159535
AA Change: L51P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124501
Gene: ENSMUSG00000023994
AA Change: L51P
| 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 |
unknown
Transcript: ENSMUST00000160319
AA Change: L52P
|
| SMART Domains |
Protein: ENSMUSP00000124245
Gene: ENSMUSG00000023994
AA Change: L52P
| 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 |
unknown
Transcript: ENSMUST00000161117
AA Change: L17P
|
| SMART Domains |
Protein: ENSMUSP00000124965
Gene: ENSMUSG00000023994
AA Change: L17P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,844,724 (GRCm39) |
V98M |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,304,420 (GRCm39) |
S1146P |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 45,003,294 (GRCm39) |
D207E |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,355,980 (GRCm39) |
V1244A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,266,247 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
G |
T |
4: 83,581,895 (GRCm39) |
E675* |
probably null |
Het |
| Cep68 |
A |
T |
11: 20,189,132 (GRCm39) |
S627T |
unknown |
Het |
| Chrnd |
T |
C |
1: 87,120,338 (GRCm39) |
W165R |
probably damaging |
Het |
| Col6a2 |
G |
T |
10: 76,439,391 (GRCm39) |
A791D |
probably damaging |
Het |
| Dlg2 |
C |
A |
7: 92,024,930 (GRCm39) |
S598R |
probably damaging |
Het |
| Elfn2 |
G |
T |
15: 78,558,500 (GRCm39) |
Q16K |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,618,540 (GRCm39) |
M434K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
G |
C |
7: 142,207,779 (GRCm39) |
P106R |
probably damaging |
Het |
| Klf7 |
T |
C |
1: 64,118,322 (GRCm39) |
S92G |
probably benign |
Het |
| Mme |
T |
A |
3: 63,234,156 (GRCm39) |
M73K |
probably damaging |
Het |
| Musk |
G |
C |
4: 58,367,502 (GRCm39) |
K588N |
probably damaging |
Het |
| Naa30 |
C |
A |
14: 49,410,353 (GRCm39) |
H94N |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,756 (GRCm39) |
Y91C |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,809 (GRCm39) |
N265S |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,818 (GRCm39) |
H54Q |
|
Het |
| Otogl |
A |
T |
10: 107,626,421 (GRCm39) |
M1481K |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,962,562 (GRCm39) |
D440G |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,493 (GRCm39) |
T624S |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,178,611 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,215,575 (GRCm39) |
V913E |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,733,053 (GRCm39) |
E211G |
possibly damaging |
Het |
| Rcc2 |
T |
C |
4: 140,443,237 (GRCm39) |
L305P |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,521,193 (GRCm39) |
V47F |
possibly damaging |
Het |
| Scly |
A |
G |
1: 91,246,798 (GRCm39) |
S370G |
probably damaging |
Het |
| Setmar |
T |
A |
6: 108,052,822 (GRCm39) |
D105E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,569,461 (GRCm39) |
N357I |
probably damaging |
Het |
| Trim30c |
G |
C |
7: 104,036,677 (GRCm39) |
T227R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,058,897 (GRCm39) |
V1014I |
probably damaging |
Het |
| Vmn1r151 |
A |
T |
7: 22,199,034 (GRCm39) |
F24I |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,094 (GRCm39) |
V204A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,484 (GRCm39) |
D1681G |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,897,414 (GRCm39) |
V573A |
probably benign |
Het |
| Wfdc2 |
A |
G |
2: 164,405,279 (GRCm39) |
D44G |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,397,272 (GRCm39) |
N75I |
probably 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 |
|
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 |
|
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'- TCCTGGTCTTTCTAAAGCAACAC -3'
(R):5'- TTTAGAGGCATCCCACCCTC -3'
Sequencing Primer
(F):5'- GGTCTTTCTAAAGCAACACACTTAG -3'
(R):5'- CTCCCTCGGAGTGATCTGCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation