Incidental Mutation 'IGL00555:Tesl2'
| ID |
332595 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tesl2
|
| Ensembl Gene |
ENSMUSG00000090102 |
| Gene Name |
testin LIM domain protein like 2 |
| Synonyms |
Gm4985 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL00555
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
23823941-23825173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23824191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 328
(I328T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118300]
|
| AlphaFold |
A2ALC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118300
AA Change: I328T
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112982
Gene: ENSMUSG00000090102
AA Change: I328T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
86 |
185 |
4.7e-44 |
PFAM |
|
LIM
|
224 |
281 |
1.48e-8 |
SMART |
|
LIM
|
289 |
341 |
2e-14 |
SMART |
|
LIM
|
349 |
404 |
2.52e-11 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,378,110 (GRCm39) |
V692A |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,971 (GRCm39) |
V1154A |
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,385,787 (GRCm39) |
N529S |
probably damaging |
Het |
| C1ra |
T |
C |
6: 124,499,250 (GRCm39) |
F479L |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,823,492 (GRCm39) |
F158S |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,535 (GRCm39) |
M194K |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,794,097 (GRCm39) |
I158F |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,823,317 (GRCm39) |
|
probably null |
Het |
| Ngf |
A |
G |
3: 102,427,788 (GRCm39) |
H179R |
probably damaging |
Het |
| Plbd2 |
A |
T |
5: 120,623,875 (GRCm39) |
M549K |
possibly damaging |
Het |
| Shc3 |
A |
G |
13: 51,615,379 (GRCm39) |
S193P |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,725,417 (GRCm39) |
T421A |
probably benign |
Het |
| Tbcel |
G |
T |
9: 42,354,333 (GRCm39) |
T165K |
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,134,824 (GRCm39) |
*346R |
probably null |
Het |
| Uba6 |
A |
T |
5: 86,267,266 (GRCm39) |
F921I |
possibly damaging |
Het |
|
| Other mutations in Tesl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02026:Tesl2
|
APN |
X |
23,824,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Tesl2
|
UTSW |
X |
23,825,173 (GRCm39) |
start codon destroyed |
probably null |
0.16 |
|
R2226:Tesl2
|
UTSW |
X |
23,825,173 (GRCm39) |
start codon destroyed |
probably null |
0.16 |
|
R2227:Tesl2
|
UTSW |
X |
23,825,173 (GRCm39) |
start codon destroyed |
probably null |
0.16 |
|
R2253:Tesl2
|
UTSW |
X |
23,824,950 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation