Incidental Mutation 'R8460:Nfya'
| ID |
655242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfya
|
| Ensembl Gene |
ENSMUSG00000023994 |
| Gene Name |
nuclear transcription factor-Y alpha |
| Synonyms |
Sez10, Cbf-b |
| MMRRC Submission |
067905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8460 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48693917-48716782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48698974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 273
(H273R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000046719
AA Change: H273R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043909
Gene: ENSMUSG00000023994
AA Change: H273R
| 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 |
possibly damaging
Transcript: ENSMUST00000078800
AA Change: H272R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077853
Gene: ENSMUSG00000023994
AA Change: H272R
| 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 |
unknown
Transcript: ENSMUST00000159063
AA Change: H238R
|
| SMART Domains |
Protein: ENSMUSP00000124404
Gene: ENSMUSG00000023994
AA Change: H238R
| 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: H133R
| 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
AA Change: H267R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124245
Gene: ENSMUSG00000023994
AA Change: H267R
| 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 |
possibly damaging
Transcript: ENSMUST00000161256
AA Change: H137R
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125034
Gene: ENSMUSG00000023994
AA Change: H137R
| 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 |
unknown
Transcript: ENSMUST00000162460
AA Change: H244R
|
| SMART Domains |
Protein: ENSMUSP00000123785
Gene: ENSMUSG00000023994
AA Change: H244R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 6030458C11Rik |
T |
C |
15: 12,818,545 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
C |
2: 69,154,381 (GRCm39) |
M62V |
possibly damaging |
Het |
| Adgrf5 |
C |
A |
17: 43,750,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,343,197 (GRCm39) |
V493D |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,591,966 (GRCm39) |
K678E |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Cd180 |
T |
C |
13: 102,839,354 (GRCm39) |
L79P |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,304,093 (GRCm39) |
S2350N |
possibly damaging |
Het |
| Cep85l |
C |
A |
10: 53,225,313 (GRCm39) |
R92L |
probably benign |
Het |
| Cyp21a1 |
T |
C |
17: 35,021,844 (GRCm39) |
D241G |
probably benign |
Het |
| Dock2 |
C |
A |
11: 34,180,825 (GRCm39) |
|
probably null |
Het |
| Fam163a |
A |
G |
1: 155,955,712 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gmnc |
G |
A |
16: 26,779,204 (GRCm39) |
L274F |
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,274,891 (GRCm39) |
C283S |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,252,249 (GRCm39) |
I166M |
probably damaging |
Het |
| Ighv3-1 |
A |
T |
12: 113,928,056 (GRCm39) |
L101* |
probably null |
Het |
| Impact |
C |
T |
18: 13,109,564 (GRCm39) |
S86L |
probably benign |
Het |
| Kif1b |
C |
T |
4: 149,272,077 (GRCm39) |
V1575I |
possibly damaging |
Het |
| Klhl6 |
A |
G |
16: 19,775,781 (GRCm39) |
V259A |
probably damaging |
Het |
| Krt81 |
G |
T |
15: 101,361,493 (GRCm39) |
A29E |
probably damaging |
Het |
| Ldah |
A |
G |
12: 8,318,548 (GRCm39) |
N219S |
probably benign |
Het |
| Map3k12 |
C |
T |
15: 102,410,032 (GRCm39) |
R581Q |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,681,040 (GRCm39) |
D285G |
probably benign |
Het |
| Mcpt2 |
A |
G |
14: 56,281,201 (GRCm39) |
D135G |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,350,634 (GRCm39) |
C1048* |
probably null |
Het |
| Megf9 |
A |
T |
4: 70,374,208 (GRCm39) |
V276D |
probably damaging |
Het |
| Olah |
T |
A |
2: 3,362,762 (GRCm39) |
Q21H |
probably damaging |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,531 (GRCm39) |
C286* |
probably null |
Het |
| Or7g21 |
T |
C |
9: 19,032,988 (GRCm39) |
S243P |
probably damaging |
Het |
| Or8b47 |
A |
T |
9: 38,427,926 (GRCm39) |
|
probably benign |
Het |
| Or8k23 |
T |
G |
2: 86,186,198 (GRCm39) |
H176P |
probably damaging |
Het |
| Or9s23 |
T |
A |
1: 92,501,268 (GRCm39) |
M125K |
probably damaging |
Het |
| Pcdhgb6 |
T |
A |
18: 37,877,278 (GRCm39) |
L662Q |
possibly damaging |
Het |
| Pou4f3 |
T |
C |
18: 42,529,053 (GRCm39) |
M332T |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,424 (GRCm39) |
P132S |
probably benign |
Het |
| Pramel58 |
T |
A |
5: 94,831,790 (GRCm39) |
C266S |
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,331,692 (GRCm39) |
S327L |
possibly damaging |
Het |
| Rdh5 |
C |
T |
10: 128,754,136 (GRCm39) |
R99H |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,383,292 (GRCm39) |
F263L |
unknown |
Het |
| Setd2 |
A |
G |
9: 110,423,338 (GRCm39) |
N353S |
|
Het |
| Sh3gl1 |
T |
C |
17: 56,326,321 (GRCm39) |
N109S |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,107,705 (GRCm39) |
Y188* |
probably null |
Het |
| Slc25a13 |
A |
T |
6: 6,073,513 (GRCm39) |
N448K |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,975,667 (GRCm39) |
V693M |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,503,968 (GRCm39) |
S206P |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,476 (GRCm39) |
I198F |
possibly damaging |
Het |
| Vps13d |
A |
T |
4: 144,897,009 (GRCm39) |
|
probably benign |
Het |
| Vps33b |
T |
C |
7: 79,937,617 (GRCm39) |
V455A |
probably benign |
Het |
| Zdbf2 |
CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG |
CGCTCCGTGCCCCCCGCG |
1: 63,348,729 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
A |
T |
9: 20,348,373 (GRCm39) |
H730Q |
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 |
|
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 |
|
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'- AAACCTTCCTGCATTCCAGTG -3'
(R):5'- AGTTCATTCTGATGCCTACCAG -3'
Sequencing Primer
(F):5'- GCACACATACCCTTCGTT -3'
(R):5'- TGATGCCTACCAGTTAGCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation