Incidental Mutation 'IGL01946:Bhlhe22'
| ID |
180960 |
| 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 # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
18108489-18111678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18109960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 337
(C337S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026120
AA Change: C337S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026120
Gene: ENSMUSG00000025128
AA Change: C337S
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
| Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Bhlhe22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02615:Bhlhe22
|
APN |
3 |
18,109,064 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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 |
2014-05-07 |
Incidental Mutation