Incidental Mutation 'R4117:Npas4'
| ID |
315148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npas4
|
| Ensembl Gene |
ENSMUSG00000045903 |
| Gene Name |
neuronal PAS domain protein 4 |
| Synonyms |
Nxf, LE-PAS, Npas4 |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5034383-5040344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5037391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 301
(Y301C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056129]
|
| AlphaFold |
Q8BGD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056129
AA Change: Y301C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: Y301C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HLH
|
6 |
56 |
1e-26 |
BLAST |
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
PAS
|
72 |
140 |
1.88e-6 |
SMART |
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
PAS
|
213 |
273 |
5.66e-1 |
SMART |
|
internal_repeat_1
|
394 |
473 |
1.35e-6 |
PROSPERO |
|
internal_repeat_1
|
467 |
556 |
1.35e-6 |
PROSPERO |
|
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2132 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, seizures and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
Het |
|
| Other mutations in Npas4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Npas4
|
APN |
19 |
5,037,355 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01865:Npas4
|
APN |
19 |
5,035,819 (GRCm39) |
nonsense |
probably null |
|
|
IGL02746:Npas4
|
APN |
19 |
5,036,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03061:Npas4
|
APN |
19 |
5,036,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03340:Npas4
|
APN |
19 |
5,035,094 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0879:Npas4
|
UTSW |
19 |
5,036,944 (GRCm39) |
missense |
probably benign |
|
|
R0920:Npas4
|
UTSW |
19 |
5,036,344 (GRCm39) |
nonsense |
probably null |
|
|
R1751:Npas4
|
UTSW |
19 |
5,038,211 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1767:Npas4
|
UTSW |
19 |
5,038,211 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2066:Npas4
|
UTSW |
19 |
5,037,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2201:Npas4
|
UTSW |
19 |
5,037,392 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3973:Npas4
|
UTSW |
19 |
5,036,579 (GRCm39) |
missense |
probably benign |
|
|
R4846:Npas4
|
UTSW |
19 |
5,036,805 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5007:Npas4
|
UTSW |
19 |
5,039,684 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6155:Npas4
|
UTSW |
19 |
5,036,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Npas4
|
UTSW |
19 |
5,036,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Npas4
|
UTSW |
19 |
5,036,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Npas4
|
UTSW |
19 |
5,036,108 (GRCm39) |
missense |
probably benign |
|
|
R8864:Npas4
|
UTSW |
19 |
5,038,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Npas4
|
UTSW |
19 |
5,038,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Npas4
|
UTSW |
19 |
5,035,837 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Npas4
|
UTSW |
19 |
5,036,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCAGAGTTTAGCTGCTGGC -3'
(R):5'- GCTCCCTCAATTCAGTGTAGAG -3'
Sequencing Primer
(F):5'- AGGCTTCCGTGTCACTGGAAAG -3'
(R):5'- CTCCCTCAATTCAGTGTAGAGGTAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation