Incidental Mutation 'IGL02998:Bhlha9'
| ID |
407204 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bhlha9
|
| Ensembl Gene |
ENSMUSG00000044243 |
| Gene Name |
basic helix-loop-helix family, member a9 |
| Synonyms |
Fingerin, A830053O21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76563296-76564502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76563570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 66
(A66T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056184]
|
| AlphaFold |
Q5RJB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056184
AA Change: A66T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050516
Gene: ENSMUSG00000044243
AA Change: A66T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
49 |
N/A |
INTRINSIC |
|
HLH
|
67 |
119 |
3.66e-8 |
SMART |
|
| 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 is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit variable asymmetrical syndactyly and interdigital webbing due to reduced interdigital apoptosis and incomplete separation of soft, but not skeletal, tissues between forelimb digits 2 and 3. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
| Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
| Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
| Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
| Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
| Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
| Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
| Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
| Shisa3 |
A |
G |
5: 67,765,848 (GRCm39) |
D33G |
possibly damaging |
Het |
| Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
| Other mutations in Bhlha9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01883:Bhlha9
|
APN |
11 |
76,563,924 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1537:Bhlha9
|
UTSW |
11 |
76,563,457 (GRCm39) |
missense |
probably benign |
|
|
R2908:Bhlha9
|
UTSW |
11 |
76,563,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5576:Bhlha9
|
UTSW |
11 |
76,563,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Bhlha9
|
UTSW |
11 |
76,563,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7728:Bhlha9
|
UTSW |
11 |
76,563,915 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8220:Bhlha9
|
UTSW |
11 |
76,563,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9411:Bhlha9
|
UTSW |
11 |
76,564,018 (GRCm39) |
missense |
probably benign |
|
|
V1662:Bhlha9
|
UTSW |
11 |
76,563,862 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2016-08-02 |
Incidental Mutation