Incidental Mutation 'IGL01021:Npas3'
| ID |
53918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npas3
|
| Ensembl Gene |
ENSMUSG00000021010 |
| Gene Name |
neuronal PAS domain protein 3 |
| Synonyms |
bHLHe12, 4930423H22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
53294940-54118958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54050343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 258
(S258P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101432]
[ENSMUST00000223057]
[ENSMUST00000223358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101432
AA Change: S286P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: S286P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
64 |
119 |
1.34e-6 |
SMART |
|
PAS
|
154 |
220 |
8.69e-11 |
SMART |
|
low complexity region
|
234 |
256 |
N/A |
INTRINSIC |
|
PAS
|
326 |
392 |
7.4e-5 |
SMART |
|
PAC
|
398 |
441 |
2.46e-1 |
SMART |
|
low complexity region
|
461 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223057
AA Change: S268P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223358
AA Change: S258P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in Npas3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Npas3
|
APN |
12 |
54,095,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01376:Npas3
|
APN |
12 |
54,091,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01634:Npas3
|
APN |
12 |
53,993,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02456:Npas3
|
APN |
12 |
54,095,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02663:Npas3
|
APN |
12 |
54,115,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02731:Npas3
|
APN |
12 |
54,114,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02955:Npas3
|
APN |
12 |
53,548,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03001:Npas3
|
APN |
12 |
53,547,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Npas3
|
APN |
12 |
53,878,470 (GRCm39) |
splice site |
probably benign |
|
|
ANU05:Npas3
|
UTSW |
12 |
54,114,857 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02837:Npas3
|
UTSW |
12 |
53,993,980 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0042:Npas3
|
UTSW |
12 |
54,095,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Npas3
|
UTSW |
12 |
54,095,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Npas3
|
UTSW |
12 |
53,878,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Npas3
|
UTSW |
12 |
54,095,658 (GRCm39) |
splice site |
probably null |
|
|
R1863:Npas3
|
UTSW |
12 |
54,115,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Npas3
|
UTSW |
12 |
54,114,680 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2047:Npas3
|
UTSW |
12 |
54,115,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Npas3
|
UTSW |
12 |
54,108,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Npas3
|
UTSW |
12 |
53,687,285 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2323:Npas3
|
UTSW |
12 |
54,115,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Npas3
|
UTSW |
12 |
54,114,796 (GRCm39) |
nonsense |
probably null |
|
|
R2871:Npas3
|
UTSW |
12 |
54,114,796 (GRCm39) |
nonsense |
probably null |
|
|
R3116:Npas3
|
UTSW |
12 |
54,114,508 (GRCm39) |
splice site |
probably null |
|
|
R3431:Npas3
|
UTSW |
12 |
54,115,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3731:Npas3
|
UTSW |
12 |
53,401,175 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3767:Npas3
|
UTSW |
12 |
54,115,857 (GRCm39) |
makesense |
probably null |
|
|
R4332:Npas3
|
UTSW |
12 |
54,108,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4593:Npas3
|
UTSW |
12 |
54,115,280 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4601:Npas3
|
UTSW |
12 |
54,091,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4654:Npas3
|
UTSW |
12 |
54,108,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4946:Npas3
|
UTSW |
12 |
54,112,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5140:Npas3
|
UTSW |
12 |
53,547,897 (GRCm39) |
nonsense |
probably null |
|
|
R5302:Npas3
|
UTSW |
12 |
54,115,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Npas3
|
UTSW |
12 |
54,115,721 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5735:Npas3
|
UTSW |
12 |
54,050,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6252:Npas3
|
UTSW |
12 |
54,115,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Npas3
|
UTSW |
12 |
54,115,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6987:Npas3
|
UTSW |
12 |
54,115,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6994:Npas3
|
UTSW |
12 |
54,115,576 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7304:Npas3
|
UTSW |
12 |
54,115,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Npas3
|
UTSW |
12 |
54,115,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Npas3
|
UTSW |
12 |
54,115,124 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7739:Npas3
|
UTSW |
12 |
54,115,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Npas3
|
UTSW |
12 |
53,878,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8017:Npas3
|
UTSW |
12 |
54,091,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Npas3
|
UTSW |
12 |
54,091,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Npas3
|
UTSW |
12 |
53,687,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Npas3
|
UTSW |
12 |
54,115,292 (GRCm39) |
missense |
probably benign |
|
|
R9172:Npas3
|
UTSW |
12 |
54,112,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9207:Npas3
|
UTSW |
12 |
54,114,818 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9774:Npas3
|
UTSW |
12 |
53,994,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0003:Npas3
|
UTSW |
12 |
54,091,511 (GRCm39) |
splice site |
probably null |
|
|
X0064:Npas3
|
UTSW |
12 |
53,401,167 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Npas3
|
UTSW |
12 |
53,547,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Npas3
|
UTSW |
12 |
53,993,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-28 |
Incidental Mutation