Incidental Mutation 'PIT4468001:Nfya'
ID |
555669 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4468001 (G1)
|
Quality Score |
213.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48702805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 61
(M61T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000161256]
[ENSMUST00000162460]
|
AlphaFold |
P23708 |
Predicted Effect |
unknown
Transcript: ENSMUST00000046719
AA Change: M61T
|
SMART Domains |
Protein: ENSMUSP00000043909 Gene: ENSMUSG00000023994 AA Change: M61T
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: M60T
|
SMART Domains |
Protein: ENSMUSP00000077853 Gene: ENSMUSG00000023994 AA Change: M60T
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
AA Change: M32T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124404 Gene: ENSMUSG00000023994 AA Change: M32T
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 benign
Transcript: ENSMUST00000159535
AA Change: M59T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124501 Gene: ENSMUSG00000023994 AA Change: M59T
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: M61T
|
SMART Domains |
Protein: ENSMUSP00000124245 Gene: ENSMUSG00000023994 AA Change: M61T
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: M26T
|
SMART Domains |
Protein: ENSMUSP00000124965 Gene: ENSMUSG00000023994 AA Change: M26T
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162460
AA Change: M32T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123785 Gene: ENSMUSG00000023994 AA Change: M32T
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: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCATACCAGACTTCTACTCTGACATAC -3'
(R):5'- TACAAACACTGTCTCAGGCCAG -3'
Sequencing Primer
(F):5'- GACACAGGTACTTGCATG -3'
(R):5'- TATCTGAGTTCAAGGCCAGC -3'
|
Posted On |
2019-06-07 |