Incidental Mutation 'R4108:Nfya'
| ID |
321503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
040987-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 48699912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 37
(Y37*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046719]
[ENSMUST00000078800]
[ENSMUST00000159063]
[ENSMUST00000159535]
[ENSMUST00000160319]
[ENSMUST00000161117]
[ENSMUST00000162460]
[ENSMUST00000161256]
|
| 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 |
probably null
Transcript: ENSMUST00000159237
AA Change: Y37*
|
| SMART Domains |
Protein: ENSMUSP00000124115
Gene: ENSMUSG00000023994
AA Change: Y37*
| 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 |
noncoding transcript
Transcript: ENSMUST00000161603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163066
|
| 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (65/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,061,796 (GRCm39) |
Y82C |
probably damaging |
Het |
| 4930579F01Rik |
T |
C |
3: 137,889,431 (GRCm39) |
N62S |
probably benign |
Het |
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,446,640 (GRCm39) |
|
probably null |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Caskin1 |
C |
A |
17: 24,721,121 (GRCm39) |
T487K |
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,204 (GRCm39) |
M239I |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,246,601 (GRCm39) |
V944L |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,416,065 (GRCm39) |
S87P |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,737,304 (GRCm39) |
D1461V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5r2 |
A |
T |
7: 107,353,136 (GRCm39) |
M102K |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
| Dtx4 |
G |
A |
19: 12,478,487 (GRCm39) |
A32V |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Eml6 |
A |
C |
11: 29,755,136 (GRCm39) |
S880A |
probably damaging |
Het |
| Fsd2 |
C |
T |
7: 81,194,715 (GRCm39) |
V483I |
probably benign |
Het |
| Inf2 |
T |
C |
12: 112,574,015 (GRCm39) |
L773P |
unknown |
Het |
| Kif26b |
A |
G |
1: 178,744,530 (GRCm39) |
Q1095R |
possibly damaging |
Het |
| Leprotl1 |
A |
G |
8: 34,607,913 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
G |
2: 40,555,099 (GRCm39) |
V340A |
unknown |
Het |
| Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
| Ncstn |
G |
T |
1: 171,900,111 (GRCm39) |
N254K |
probably damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,741,583 (GRCm39) |
H139L |
possibly damaging |
Het |
| Nfe2l1 |
C |
T |
11: 96,710,220 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,822,952 (GRCm39) |
V247A |
probably damaging |
Het |
| Or7g26 |
T |
A |
9: 19,230,608 (GRCm39) |
Y265* |
probably null |
Het |
| Otogl |
C |
T |
10: 107,607,105 (GRCm39) |
V2093I |
probably benign |
Het |
| Phc2 |
A |
G |
4: 128,601,776 (GRCm39) |
Y77C |
probably damaging |
Het |
| Pik3c2g |
C |
A |
6: 139,676,096 (GRCm39) |
A80E |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,936,276 (GRCm39) |
H1675N |
probably damaging |
Het |
| Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,489,565 (GRCm39) |
D199G |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,847 (GRCm39) |
Y297H |
probably benign |
Het |
| Psmb7 |
T |
A |
2: 38,532,211 (GRCm39) |
H78L |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,396 (GRCm39) |
C773R |
probably damaging |
Het |
| Rpl12 |
A |
T |
2: 32,851,836 (GRCm39) |
N8Y |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,788 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,398,374 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,221,351 (GRCm39) |
V266I |
possibly damaging |
Het |
| Smtn |
G |
A |
11: 3,476,449 (GRCm39) |
T144I |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,002,122 (GRCm39) |
N84S |
probably benign |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,384,637 (GRCm39) |
H39Q |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Tsg101 |
T |
A |
7: 46,542,242 (GRCm39) |
D99V |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
| Ubald1 |
C |
A |
16: 4,693,731 (GRCm39) |
M61I |
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,847,869 (GRCm39) |
D465N |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
A |
G |
11: 21,262,877 (GRCm39) |
I655V |
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 |
|
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 |
|
|
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'- AAGCAAGTGCCTTCTGCTGC -3'
(R):5'- ATTCCCACCACATCTGCAGTG -3'
Sequencing Primer
(F):5'- CACTGTGTTCTGCTAAGTTCAG -3'
(R):5'- ATCTGCAGTGACCGACCGTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation