Incidental Mutation 'R6967:Nfya'
| ID |
542080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
045077-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 48699932 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124115
Gene: ENSMUSG00000023994
AA Change: C31G
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (56/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
A |
G |
7: 103,708,212 (GRCm39) |
I199T |
probably benign |
Het |
| Adam23 |
T |
G |
1: 63,602,495 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
C |
T |
9: 30,865,787 (GRCm39) |
T445I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,864,524 (GRCm39) |
V752A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,130 (GRCm39) |
E1437G |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,998 (GRCm39) |
S131N |
possibly damaging |
Het |
| Ces1f |
G |
A |
8: 93,994,625 (GRCm39) |
P262L |
probably benign |
Het |
| Chrna2 |
A |
T |
14: 66,388,398 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,797,420 (GRCm39) |
V1295M |
possibly damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dach1 |
A |
T |
14: 98,140,633 (GRCm39) |
S456R |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,499,231 (GRCm39) |
D659G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,585,821 (GRCm39) |
V586A |
probably damaging |
Het |
| Efhb |
G |
T |
17: 53,770,196 (GRCm39) |
L38I |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,429 (GRCm39) |
S108P |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,987,344 (GRCm39) |
N313S |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,482,102 (GRCm39) |
E172G |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,292,734 (GRCm39) |
V191A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
C |
T |
9: 58,731,228 (GRCm39) |
T145M |
unknown |
Het |
| Kirrel3 |
T |
C |
9: 34,946,202 (GRCm39) |
S654P |
probably damaging |
Het |
| Klrb1 |
A |
T |
6: 128,687,486 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,025,339 (GRCm39) |
D166V |
probably damaging |
Het |
| Lipk |
T |
A |
19: 34,017,794 (GRCm39) |
Y277* |
probably null |
Het |
| Ly6g |
A |
C |
15: 75,030,398 (GRCm39) |
N49T |
possibly damaging |
Het |
| Ms4a4c |
A |
T |
19: 11,392,191 (GRCm39) |
Q4L |
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,913,709 (GRCm39) |
V530A |
probably benign |
Het |
| Ocln |
A |
T |
13: 100,675,796 (GRCm39) |
Y232* |
probably null |
Het |
| Or10ag59 |
A |
G |
2: 87,405,857 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or2r2 |
A |
G |
6: 42,463,947 (GRCm39) |
F60S |
probably damaging |
Het |
| Or4d2b |
C |
T |
11: 87,780,324 (GRCm39) |
V133I |
probably benign |
Het |
| Or5b114-ps1 |
A |
G |
19: 13,352,815 (GRCm39) |
H163R |
unknown |
Het |
| Otogl |
G |
A |
10: 107,649,911 (GRCm39) |
A1148V |
probably benign |
Het |
| Paqr5 |
C |
T |
9: 61,880,113 (GRCm39) |
W46* |
probably null |
Het |
| Psd2 |
C |
A |
18: 36,113,385 (GRCm39) |
L286M |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,612,311 (GRCm39) |
Y27* |
probably null |
Het |
| Ripk2 |
A |
G |
4: 16,158,275 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
C |
T |
7: 4,967,146 (GRCm39) |
|
probably null |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,466,728 (GRCm39) |
D4072A |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,912,345 (GRCm39) |
Y214C |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,513,202 (GRCm39) |
D256E |
possibly damaging |
Het |
| Sugt1 |
A |
G |
14: 79,834,847 (GRCm39) |
Y90C |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,469,564 (GRCm39) |
I1088T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,819 (GRCm39) |
D1710E |
probably benign |
Het |
| Tmc7 |
T |
A |
7: 118,146,901 (GRCm39) |
T459S |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,780 (GRCm39) |
Y164C |
probably damaging |
Het |
| Tmem275 |
A |
G |
4: 115,755,491 (GRCm39) |
T97A |
unknown |
Het |
| Tmem63b |
T |
C |
17: 45,977,558 (GRCm39) |
E356G |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,415,357 (GRCm39) |
I261V |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,544 (GRCm39) |
K121* |
probably null |
Het |
| Zc3h12d |
A |
T |
10: 7,715,644 (GRCm39) |
S16C |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,807,812 (GRCm39) |
M1744K |
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 |
|
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'- AACAGTCTAGGGCCCAATTC -3'
(R):5'- CCTGAGAGTGCTTCAGAGTC -3'
Sequencing Primer
(F):5'- TCTAGGGCCCAATTCCAAATAAATTC -3'
(R):5'- GTGCTTCAGAGTCATTATGAAGTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation