Incidental Mutation 'R7900:Nr1d1'
| ID |
609954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr1d1
|
| Ensembl Gene |
ENSMUSG00000020889 |
| Gene Name |
nuclear receptor subfamily 1, group D, member 1 |
| Synonyms |
A530070C09Rik, rev-erbA(alpha), REV-ERBalpha |
| MMRRC Submission |
045952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98658758-98666159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98660537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 477
(T477S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064187]
[ENSMUST00000064941]
[ENSMUST00000103139]
[ENSMUST00000124072]
|
| AlphaFold |
Q3UV55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064187
|
| SMART Domains |
Protein: ENSMUSP00000068281
Gene: ENSMUSG00000058756
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
1.43e-31 |
SMART |
|
low complexity region
|
461 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064941
AA Change: T477S
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889
AA Change: T477S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
94 |
N/A |
INTRINSIC |
|
ZnF_C4
|
130 |
202 |
5.54e-38 |
SMART |
|
low complexity region
|
240 |
263 |
N/A |
INTRINSIC |
|
PDB:3N00|A
|
282 |
361 |
2e-21 |
PDB |
|
HOLI
|
442 |
600 |
4.2e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103139
|
| SMART Domains |
Protein: ENSMUSP00000099428
Gene: ENSMUSG00000058756
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
7.26e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124072
|
| SMART Domains |
Protein: ENSMUSP00000115323
Gene: ENSMUSG00000058756
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
50 |
123 |
3.09e-36 |
SMART |
|
HOLI
|
220 |
378 |
2.36e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (Arntl). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered circadian behavior and temperature regulation with mild alterations in cytoarchitecture of the cerebellum. Litter size is reduced by half in mutant females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamtsl5 |
A |
G |
10: 80,177,735 (GRCm39) |
F309S |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,860,061 (GRCm39) |
T213I |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,958,751 (GRCm39) |
S528P |
probably benign |
Het |
| Camk2a |
A |
G |
18: 61,090,438 (GRCm39) |
Y222C |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,453 (GRCm39) |
D639G |
probably damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,616,328 (GRCm39) |
S202R |
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,107 (GRCm39) |
L798F |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 57,923,667 (GRCm39) |
V124E |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,266,594 (GRCm39) |
|
probably null |
Het |
| Dlst |
G |
T |
12: 85,177,292 (GRCm39) |
R346L |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,409,254 (GRCm39) |
S375P |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 162,182,940 (GRCm39) |
Y125F |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,783,491 (GRCm39) |
A2011T |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,719,984 (GRCm39) |
|
probably null |
Het |
| Egln1 |
A |
T |
8: 125,640,879 (GRCm39) |
I319N |
possibly damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,461 (GRCm39) |
N351I |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,690,920 (GRCm39) |
N361S |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,376,659 (GRCm39) |
T546A |
probably damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,791 (GRCm39) |
F169L |
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,027,400 (GRCm39) |
I375L |
possibly damaging |
Het |
| Itpka |
A |
T |
2: 119,580,994 (GRCm39) |
T381S |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,617,709 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
C |
6: 34,106,129 (GRCm39) |
L718P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nxnl1 |
A |
T |
8: 72,019,170 (GRCm39) |
D18E |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,658 (GRCm39) |
R403L |
probably damaging |
Het |
| Or51v14 |
T |
C |
7: 103,260,900 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Or5an1 |
T |
A |
19: 12,260,705 (GRCm39) |
C98S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,258,858 (GRCm39) |
T1177A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,587,269 (GRCm39) |
V405A |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,161 (GRCm39) |
T72A |
probably damaging |
Het |
| Retnla |
A |
C |
16: 48,663,977 (GRCm39) |
R90S |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,514,669 (GRCm39) |
I385N |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,848,583 (GRCm39) |
R57H |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,836,183 (GRCm39) |
D110G |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,110,187 (GRCm39) |
Y975C |
probably damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,599 (GRCm39) |
N176I |
possibly damaging |
Het |
| Tecrl |
A |
C |
5: 83,427,188 (GRCm39) |
V320G |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,924,973 (GRCm39) |
|
probably null |
Het |
| Tpd52l1 |
T |
A |
10: 31,214,178 (GRCm39) |
|
probably null |
Het |
| Trbv2 |
A |
G |
6: 41,024,908 (GRCm39) |
Y108C |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,418 (GRCm39) |
M1689V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,266,597 (GRCm39) |
Y1855C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,384,354 (GRCm39) |
S721R |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,605,439 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,409,637 (GRCm39) |
|
probably null |
Het |
| Yeats4 |
G |
A |
10: 117,056,464 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Zbtb38 |
A |
C |
9: 96,570,989 (GRCm39) |
L32V |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,519 (GRCm39) |
T749A |
possibly damaging |
Het |
|
| Other mutations in Nr1d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0048:Nr1d1
|
UTSW |
11 |
98,661,304 (GRCm39) |
missense |
probably benign |
|
|
R1485:Nr1d1
|
UTSW |
11 |
98,661,187 (GRCm39) |
missense |
probably benign |
|
|
R1801:Nr1d1
|
UTSW |
11 |
98,662,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Nr1d1
|
UTSW |
11 |
98,661,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4342:Nr1d1
|
UTSW |
11 |
98,662,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Nr1d1
|
UTSW |
11 |
98,660,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Nr1d1
|
UTSW |
11 |
98,662,738 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4664:Nr1d1
|
UTSW |
11 |
98,662,086 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4770:Nr1d1
|
UTSW |
11 |
98,661,471 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5408:Nr1d1
|
UTSW |
11 |
98,661,087 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5677:Nr1d1
|
UTSW |
11 |
98,662,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Nr1d1
|
UTSW |
11 |
98,661,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6244:Nr1d1
|
UTSW |
11 |
98,661,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Nr1d1
|
UTSW |
11 |
98,662,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Nr1d1
|
UTSW |
11 |
98,661,662 (GRCm39) |
splice site |
probably null |
|
|
R7073:Nr1d1
|
UTSW |
11 |
98,662,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Nr1d1
|
UTSW |
11 |
98,662,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Nr1d1
|
UTSW |
11 |
98,662,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Nr1d1
|
UTSW |
11 |
98,660,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Nr1d1
|
UTSW |
11 |
98,660,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Nr1d1
|
UTSW |
11 |
98,660,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Nr1d1
|
UTSW |
11 |
98,660,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:Nr1d1
|
UTSW |
11 |
98,659,883 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9715:Nr1d1
|
UTSW |
11 |
98,662,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:Nr1d1
|
UTSW |
11 |
98,661,160 (GRCm39) |
missense |
probably benign |
|
|
X0018:Nr1d1
|
UTSW |
11 |
98,661,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTACTCTGATGCACTGAG -3'
(R):5'- GTCCCATGAACATGTATCCCC -3'
Sequencing Primer
(F):5'- CACTGAGTTTGGAGGCAACAC -3'
(R):5'- TGAACATGTATCCCCATGGACG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation