Incidental Mutation 'R4057:Npas1'
| ID |
368221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npas1
|
| Ensembl Gene |
ENSMUSG00000001988 |
| Gene Name |
neuronal PAS domain protein 1 |
| Synonyms |
MOP5, bHLHe11 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.818)
|
| Stock # |
R4057 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16189643-16210741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 16208712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 55
(R55L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002053]
[ENSMUST00000210748]
|
| AlphaFold |
P97459 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002053
AA Change: R55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: R55L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
HLH
|
51 |
106 |
1.44e-6 |
SMART |
|
low complexity region
|
109 |
128 |
N/A |
INTRINSIC |
|
PAS
|
137 |
203 |
1.09e-11 |
SMART |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
PAS
|
294 |
360 |
5.32e-6 |
SMART |
|
PAC
|
366 |
409 |
5.64e0 |
SMART |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083959
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210748
AA Change: R55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211695
|
| Meta Mutation Damage Score |
0.5944 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (36/38) |
| 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 a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,653 (GRCm39) |
Y377H |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,124,385 (GRCm39) |
E347G |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,509 (GRCm39) |
M1686K |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,135 (GRCm39) |
|
probably benign |
Het |
| Emcn |
C |
A |
3: 137,085,660 (GRCm39) |
T86K |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,250 (GRCm39) |
Y2361C |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
| Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
| Ltbp1 |
G |
T |
17: 75,617,189 (GRCm39) |
G725C |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,270,971 (GRCm39) |
M144K |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,711 (GRCm39) |
V5000D |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,127,120 (GRCm39) |
A3534E |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,270,071 (GRCm39) |
C833S |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,476 (GRCm39) |
K189R |
probably damaging |
Het |
| P2ry10 |
T |
C |
X: 106,146,862 (GRCm39) |
C266R |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,331,950 (GRCm39) |
E351G |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,563 (GRCm39) |
R1751W |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,150 (GRCm39) |
|
probably null |
Het |
| Por |
A |
G |
5: 135,760,428 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,382,658 (GRCm39) |
I158S |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
| Serpina3m |
A |
C |
12: 104,357,996 (GRCm39) |
|
probably benign |
Het |
| Sox5 |
G |
T |
6: 144,062,248 (GRCm39) |
R135S |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,313,819 (GRCm39) |
T228A |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
|
| Other mutations in Npas1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Npas1
|
APN |
7 |
16,197,247 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01627:Npas1
|
APN |
7 |
16,199,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Npas1
|
APN |
7 |
16,190,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03141:Npas1
|
APN |
7 |
16,199,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Npas1
|
UTSW |
7 |
16,197,169 (GRCm39) |
splice site |
probably null |
|
|
H8786:Npas1
|
UTSW |
7 |
16,195,275 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0218:Npas1
|
UTSW |
7 |
16,195,818 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1736:Npas1
|
UTSW |
7 |
16,208,541 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1795:Npas1
|
UTSW |
7 |
16,208,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Npas1
|
UTSW |
7 |
16,193,202 (GRCm39) |
missense |
probably benign |
|
|
R2570:Npas1
|
UTSW |
7 |
16,208,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Npas1
|
UTSW |
7 |
16,193,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5937:Npas1
|
UTSW |
7 |
16,197,187 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6456:Npas1
|
UTSW |
7 |
16,195,851 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7195:Npas1
|
UTSW |
7 |
16,208,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Npas1
|
UTSW |
7 |
16,194,899 (GRCm39) |
splice site |
probably null |
|
|
R8221:Npas1
|
UTSW |
7 |
16,189,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Npas1
|
UTSW |
7 |
16,195,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Npas1
|
UTSW |
7 |
16,195,333 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9382:Npas1
|
UTSW |
7 |
16,190,231 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9653:Npas1
|
UTSW |
7 |
16,190,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Npas1
|
UTSW |
7 |
16,196,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCTGGCTTTCTCAATC -3'
(R):5'- GGTTCTGTCCCTGTCCTCAAAAG -3'
Sequencing Primer
(F):5'- AATCCTGTCCCCAAGGCTG -3'
(R):5'- TGTCCTCAAAAGCCAGCAGGG -3'
|
| Posted On |
2016-01-06 |
Incidental Mutation