Incidental Mutation 'R9195:Nr1d1'
| ID |
697913 |
| 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 |
068954-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9195 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98658758-98666159 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98659883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 547
(V547A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000064941
AA Change: V547A
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069505
Gene: ENSMUSG00000020889
AA Change: V547A
| 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 |
|
| Meta Mutation Damage Score |
0.6511 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
G |
C |
15: 20,665,517 (GRCm39) |
T408R |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,283,479 (GRCm39) |
Y1310C |
|
Het |
| Atp6v1c1 |
T |
A |
15: 38,674,198 (GRCm39) |
F64I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,167,337 (GRCm39) |
E1246G |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,463,418 (GRCm39) |
S1061T |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,763,703 (GRCm39) |
I124T |
|
Het |
| Cep83 |
A |
G |
10: 94,604,801 (GRCm39) |
R505G |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,671,045 (GRCm39) |
E382G |
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,088,379 (GRCm39) |
H235Q |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,944,815 (GRCm39) |
H90L |
probably benign |
Het |
| Cybrd1 |
G |
A |
2: 70,968,742 (GRCm39) |
G205D |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,161,455 (GRCm39) |
I345N |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,446 (GRCm39) |
L67P |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,018,836 (GRCm39) |
N612S |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,092 (GRCm39) |
D35V |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,139 (GRCm39) |
H62R |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,009,778 (GRCm39) |
L327Q |
probably damaging |
Het |
| Lbr |
T |
C |
1: 181,663,837 (GRCm39) |
K61R |
probably benign |
Het |
| Mrpl36 |
G |
A |
13: 73,479,498 (GRCm39) |
A3T |
unknown |
Het |
| Nectin3 |
G |
A |
16: 46,279,259 (GRCm39) |
R240* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,821,139 (GRCm38) |
L35P |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,942,040 (GRCm39) |
I4445N |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,345 (GRCm39) |
I114T |
probably damaging |
Het |
| Pcdhgb1 |
T |
G |
18: 37,814,157 (GRCm39) |
V216G |
probably damaging |
Het |
| Pklr |
T |
C |
3: 89,048,636 (GRCm39) |
S100P |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,089,975 (GRCm39) |
S70T |
probably benign |
Het |
| Rec114 |
T |
G |
9: 58,567,534 (GRCm39) |
T151P |
probably benign |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
A |
G |
3: 63,871,188 (GRCm39) |
S142P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,281,055 (GRCm39) |
N407K |
possibly damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,898,149 (GRCm39) |
C522R |
probably damaging |
Het |
| Tcim |
A |
T |
8: 24,928,878 (GRCm39) |
M12K |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,126 (GRCm39) |
Y1917N |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,779 (GRCm39) |
Y345H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,638 (GRCm39) |
V381A |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,297,932 (GRCm39) |
M266T |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,311,168 (GRCm39) |
I1562V |
probably benign |
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 |
|
R7900:Nr1d1
|
UTSW |
11 |
98,660,537 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
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'- TGAGCTCCTCCTCTGACACG -3'
(R):5'- TTGTTCAACGTGAAGGACCAG -3'
Sequencing Primer
(F):5'- GCAGAAATAGTCGTCTGTGCTTAC -3'
(R):5'- ACCAGACAGTGATGTTCCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation