Incidental Mutation 'IGL02615:Bhlhe22'
| ID |
300630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bhlhe22
|
| Ensembl Gene |
ENSMUSG00000025128 |
| Gene Name |
basic helix-loop-helix family, member e22 |
| Synonyms |
Bhlhb5, Beta3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
18108489-18111678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18109064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 38
(T38I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026120
AA Change: T38I
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: T38I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
212 |
N/A |
INTRINSIC |
|
HLH
|
222 |
276 |
2.72e-16 |
SMART |
|
low complexity region
|
289 |
314 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Adck5 |
C |
T |
15: 76,473,367 (GRCm39) |
S72L |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in Bhlhe22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01946:Bhlhe22
|
APN |
3 |
18,109,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
butchered
|
UTSW |
3 |
18,109,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Bhlhe22
|
UTSW |
3 |
18,109,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Bhlhe22
|
UTSW |
3 |
18,109,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Bhlhe22
|
UTSW |
3 |
18,109,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Bhlhe22
|
UTSW |
3 |
18,109,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2025:Bhlhe22
|
UTSW |
3 |
18,109,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2400:Bhlhe22
|
UTSW |
3 |
18,109,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3981:Bhlhe22
|
UTSW |
3 |
18,109,058 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4505:Bhlhe22
|
UTSW |
3 |
18,109,123 (GRCm39) |
missense |
probably benign |
|
|
R4507:Bhlhe22
|
UTSW |
3 |
18,109,123 (GRCm39) |
missense |
probably benign |
|
|
R6128:Bhlhe22
|
UTSW |
3 |
18,109,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Bhlhe22
|
UTSW |
3 |
18,109,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Bhlhe22
|
UTSW |
3 |
18,110,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Bhlhe22
|
UTSW |
3 |
18,109,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9214:Bhlhe22
|
UTSW |
3 |
18,109,024 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation