Incidental Mutation 'IGL02348:Nfya'
ID |
289364 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02348
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 48700304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 122
(Q122*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000162460]
[ENSMUST00000161117]
[ENSMUST00000161256]
|
AlphaFold |
P23708 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046719
AA Change: Q151*
|
SMART Domains |
Protein: ENSMUSP00000043909 Gene: ENSMUSG00000023994 AA Change: Q151*
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: Q150*
|
SMART Domains |
Protein: ENSMUSP00000077853 Gene: ENSMUSG00000023994 AA Change: Q150*
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: Q122*
|
SMART Domains |
Protein: ENSMUSP00000124404 Gene: ENSMUSG00000023994 AA Change: Q122*
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: Q149*
|
SMART Domains |
Protein: ENSMUSP00000124501 Gene: ENSMUSG00000023994 AA Change: Q149*
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: Q151*
|
SMART Domains |
Protein: ENSMUSP00000124245 Gene: ENSMUSG00000023994 AA Change: Q151*
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 |
probably null
Transcript: ENSMUST00000162460
AA Change: Q122*
|
SMART Domains |
Protein: ENSMUSP00000123785 Gene: ENSMUSG00000023994 AA Change: Q122*
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 null
Transcript: ENSMUST00000161117
AA Change: Q116*
|
SMART Domains |
Protein: ENSMUSP00000124965 Gene: ENSMUSG00000023994 AA Change: Q116*
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: ENSMUST00000161256
AA Change: Q17*
|
SMART Domains |
Protein: ENSMUSP00000125034 Gene: ENSMUSG00000023994 AA Change: Q17*
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 |
noncoding transcript
Transcript: ENSMUST00000161686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160804
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161603
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
Atp13a3 |
C |
T |
16: 30,170,046 (GRCm39) |
|
probably null |
Het |
Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
Fars2 |
G |
A |
13: 36,721,354 (GRCm39) |
V433I |
probably benign |
Het |
Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
Gmpr2 |
T |
A |
14: 55,915,758 (GRCm39) |
I312N |
probably damaging |
Het |
Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,610,452 (GRCm39) |
Y685C |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
Sumf2 |
G |
T |
5: 129,888,711 (GRCm39) |
G216C |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |