Incidental Mutation 'R4593:Npas3'
| ID |
344225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npas3
|
| Ensembl Gene |
ENSMUSG00000021010 |
| Gene Name |
neuronal PAS domain protein 3 |
| Synonyms |
bHLHe12, 4930423H22Rik |
| MMRRC Submission |
041809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R4593 (G1)
|
| Quality Score |
107 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
53294940-54118958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54115280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 703
(Q703L)
|
| 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 benign
Transcript: ENSMUST00000101432
AA Change: Q734L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: Q734L
| 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 |
noncoding transcript
Transcript: ENSMUST00000185390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223057
AA Change: Q716L
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223358
AA Change: Q703L
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0683 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
| Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
| Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
| Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
| Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
| Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
| Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly damaging |
Het |
|
| Other mutations in Npas3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Npas3
|
APN |
12 |
54,050,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAAGATCAAGACAGAGATCG -3'
(R):5'- ATAGTGCCCGTGGTGTAGAC -3'
Sequencing Primer
(F):5'- GCAGCATCTGGAACTACCCG -3'
(R):5'- TGTAGACCCTCTGTGCGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation