Incidental Mutation 'R1124:Bhlhe41'
| ID |
95960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bhlhe41
|
| Ensembl Gene |
ENSMUSG00000030256 |
| Gene Name |
basic helix-loop-helix family, member e41 |
| Synonyms |
6430520M22Rik, DEC2, Bhlhb3, Sharp1 |
| MMRRC Submission |
039197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1124 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145803969-145811146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145809456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 119
(S119P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032386]
[ENSMUST00000111703]
|
| AlphaFold |
Q99PV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032386
AA Change: S119P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032386
Gene: ENSMUSG00000030256
AA Change: S119P
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
50 |
105 |
4.4e-11 |
SMART |
|
ORANGE
|
129 |
175 |
3.26e-15 |
SMART |
|
low complexity region
|
179 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111703
|
| SMART Domains |
Protein: ENSMUSP00000107332
Gene: ENSMUSG00000030256
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
50 |
105 |
4.4e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203949
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with Arntl or compete for E-box binding sites in the promoter of Per1 and repress Clock/Arntl's transactivation of Per1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit delayed circadian phase. Mice homozygous for another knock-out allele exhibit impaired TH2 differentiation in response to numerous stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
| Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
| Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
| Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
| Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
| Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
| Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
| Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
Het |
|
| Other mutations in Bhlhe41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01717:Bhlhe41
|
APN |
6 |
145,808,763 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02303:Bhlhe41
|
APN |
6 |
145,809,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Bhlhe41
|
APN |
6 |
145,810,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Bhlhe41
|
APN |
6 |
145,809,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3620:Bhlhe41
|
UTSW |
6 |
145,808,733 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4035:Bhlhe41
|
UTSW |
6 |
145,808,754 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5296:Bhlhe41
|
UTSW |
6 |
145,808,694 (GRCm39) |
unclassified |
probably benign |
|
|
R8355:Bhlhe41
|
UTSW |
6 |
145,811,028 (GRCm39) |
splice site |
probably null |
|
|
R8801:Bhlhe41
|
UTSW |
6 |
145,810,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Bhlhe41
|
UTSW |
6 |
145,809,096 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9476:Bhlhe41
|
UTSW |
6 |
145,808,948 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCGGGGTACAGATACTTGTCCAG -3'
(R):5'- TTTCAGCCAGGAAGAGAGCGCC -3'
Sequencing Primer
(F):5'- TGAGTCCGCTGGATGACC -3'
(R):5'- GAAGAGAGCGCCTCACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation