Incidental Mutation 'R0920:Npas4'
| ID |
82838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npas4
|
| Ensembl Gene |
ENSMUSG00000045903 |
| Gene Name |
neuronal PAS domain protein 4 |
| Synonyms |
Nxf, LE-PAS, Npas4 |
| MMRRC Submission |
039070-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R0920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5034383-5040344 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 5036344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 607
(E607*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056129]
|
| AlphaFold |
Q8BGD7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056129
AA Change: E607*
|
| SMART Domains |
Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: E607*
| 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
| Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
| Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
| Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
| Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
| Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
| Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
| Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
| Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
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 |
|
|
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 |
|
|
R4117:Npas4
|
UTSW |
19 |
5,037,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ATCAGGGTCAACCAGGAAGTCCAG -3'
(R):5'- TCCTACCAAGACTTACTTCGCCCAG -3'
Sequencing Primer
(F):5'- TCCAGGGTTTAAGATCCAGGC -3'
(R):5'- CCAGGAGGGATGCAGTTTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation