Incidental Mutation 'R6299:Nfya'
ID |
509000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfya
|
Ensembl Gene |
ENSMUSG00000023994 |
Gene Name |
nuclear transcription factor-Y alpha |
Synonyms |
Sez10, Cbf-b |
MMRRC Submission |
044465-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6299 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 48699938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000161256]
[ENSMUST00000162460]
|
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 |
unknown
Transcript: ENSMUST00000159237
AA Change: T29A
|
SMART Domains |
Protein: ENSMUSP00000124115 Gene: ENSMUSG00000023994 AA Change: T29A
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 |
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: 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
|
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 |
noncoding transcript
Transcript: ENSMUST00000161603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163066
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bms1 |
G |
A |
6: 118,395,476 (GRCm39) |
R24W |
probably damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,126 (GRCm39) |
S60C |
probably damaging |
Het |
Cabcoco1 |
A |
G |
10: 68,272,720 (GRCm39) |
Y222H |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,485,335 (GRCm39) |
V559A |
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,077,647 (GRCm39) |
N46K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,464,275 (GRCm39) |
D114G |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,138,034 (GRCm39) |
L279F |
probably damaging |
Het |
Cr2 |
T |
C |
1: 194,850,954 (GRCm39) |
T151A |
probably damaging |
Het |
Creb3l3 |
C |
T |
10: 80,924,447 (GRCm39) |
E236K |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,618,599 (GRCm39) |
V336D |
probably damaging |
Het |
Dop1a |
T |
G |
9: 86,386,265 (GRCm39) |
F379V |
probably damaging |
Het |
Esf1 |
T |
C |
2: 139,965,554 (GRCm39) |
K714R |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,388,513 (GRCm39) |
M1L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,121 (GRCm39) |
R354G |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,735,855 (GRCm39) |
L535P |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,731,066 (GRCm39) |
T12A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Golga4 |
T |
A |
9: 118,386,438 (GRCm39) |
S1187T |
probably benign |
Het |
Haus3 |
A |
G |
5: 34,325,140 (GRCm39) |
V173A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,272,016 (GRCm39) |
Y2566C |
probably damaging |
Het |
Inpp5f |
A |
T |
7: 128,237,884 (GRCm39) |
T34S |
possibly damaging |
Het |
Iqck |
G |
A |
7: 118,475,485 (GRCm39) |
G70S |
unknown |
Het |
Jade1 |
T |
C |
3: 41,568,160 (GRCm39) |
F743L |
probably damaging |
Het |
Kif5a |
T |
C |
10: 127,069,690 (GRCm39) |
K845R |
probably damaging |
Het |
Klhl30 |
A |
G |
1: 91,285,636 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
C |
9: 64,121,772 (GRCm39) |
D67G |
possibly damaging |
Het |
Mcm9 |
A |
C |
10: 53,413,777 (GRCm39) |
C434W |
probably damaging |
Het |
Muc4 |
T |
G |
16: 32,570,853 (GRCm39) |
S638A |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,345 (GRCm39) |
V113A |
probably damaging |
Het |
Nup155 |
G |
T |
15: 8,157,922 (GRCm39) |
A460S |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,051,270 (GRCm39) |
E371G |
possibly damaging |
Het |
Olfm3 |
T |
C |
3: 114,914,632 (GRCm39) |
S228P |
probably damaging |
Het |
Or52n20 |
C |
A |
7: 104,320,075 (GRCm39) |
D55E |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Plin1 |
A |
C |
7: 79,371,224 (GRCm39) |
V500G |
probably benign |
Het |
Ppfia1 |
A |
C |
7: 144,064,049 (GRCm39) |
M513R |
probably benign |
Het |
Ppp1cb |
T |
A |
5: 32,640,798 (GRCm39) |
C27* |
probably null |
Het |
Prss22 |
T |
A |
17: 24,215,408 (GRCm39) |
I123F |
probably damaging |
Het |
Rbm24 |
G |
T |
13: 46,572,549 (GRCm39) |
V15L |
probably damaging |
Het |
Reln |
T |
C |
5: 22,491,942 (GRCm39) |
T97A |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,180,203 (GRCm39) |
T1065A |
possibly damaging |
Het |
Sipa1l3 |
A |
C |
7: 29,065,974 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
A |
2: 127,064,081 (GRCm39) |
Y689* |
probably null |
Het |
Srcap |
T |
C |
7: 127,129,626 (GRCm39) |
|
probably benign |
Het |
Sv2a |
T |
C |
3: 96,095,565 (GRCm39) |
|
probably null |
Het |
Tcf12 |
A |
T |
9: 71,766,211 (GRCm39) |
V474D |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,815,980 (GRCm39) |
S403T |
probably damaging |
Het |
Trim65 |
C |
A |
11: 116,017,377 (GRCm39) |
A362S |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,423,919 (GRCm39) |
C36* |
probably null |
Het |
Trpm8 |
T |
A |
1: 88,282,201 (GRCm39) |
L699Q |
probably damaging |
Het |
Ube2m |
A |
C |
7: 12,769,797 (GRCm39) |
I116R |
probably damaging |
Het |
Ulk1 |
T |
C |
5: 110,938,963 (GRCm39) |
K492E |
possibly damaging |
Het |
Usp40 |
T |
A |
1: 87,925,649 (GRCm39) |
K193N |
probably damaging |
Het |
Vmn1r3 |
A |
G |
4: 3,185,098 (GRCm39) |
S70P |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,024,074 (GRCm39) |
K836* |
probably null |
Het |
Vmn2r75 |
T |
A |
7: 85,814,482 (GRCm39) |
H337L |
probably benign |
Het |
Wars1 |
G |
A |
12: 108,827,309 (GRCm39) |
T437M |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,520,825 (GRCm39) |
T451A |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,297,965 (GRCm39) |
H180Q |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,717,782 (GRCm39) |
E59G |
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 |
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'- ACAGTCTAGGGCCCAATTCC -3'
(R):5'- TGAGAGTGCTTCAGAGTCATTATG -3'
Sequencing Primer
(F):5'- TCTAGGGCCCAATTCCAAATAAATTC -3'
(R):5'- GTGCTTCAGAGTCATTATGAAGTCC -3'
|
Posted On |
2018-04-02 |