Incidental Mutation 'IGL00851:Tekt3'
| ID |
14426 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tekt3
|
| Ensembl Gene |
ENSMUSG00000042189 |
| Gene Name |
tektin 3 |
| Synonyms |
4933407G07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00851
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62952485-62985786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62961226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 132
(Y132H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035732]
|
| AlphaFold |
Q6X6Z7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035732
AA Change: Y132H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000042063
Gene: ENSMUSG00000042189
AA Change: Y132H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
99 |
481 |
5.6e-149 |
PFAM |
|
| 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 product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit defective sperm motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,939,230 (GRCm39) |
F208S |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,710,663 (GRCm39) |
I396T |
probably damaging |
Het |
| Atp9b |
T |
G |
18: 80,809,125 (GRCm39) |
E215A |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,849,745 (GRCm39) |
I70F |
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,461,006 (GRCm39) |
Y681H |
probably benign |
Het |
| Diaph2 |
A |
G |
X: 128,872,296 (GRCm39) |
K631R |
unknown |
Het |
| Gprasp2 |
A |
G |
X: 134,744,500 (GRCm39) |
T620A |
probably damaging |
Het |
| Hgd |
C |
T |
16: 37,452,057 (GRCm39) |
S403F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,458,052 (GRCm39) |
K5245E |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,847,580 (GRCm39) |
D27G |
probably damaging |
Het |
| Myh1 |
C |
T |
11: 67,108,736 (GRCm39) |
T1384M |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,800,938 (GRCm39) |
M260L |
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,558,732 (GRCm39) |
I24T |
probably benign |
Het |
| Prdx1 |
C |
T |
4: 116,550,147 (GRCm39) |
R110C |
probably benign |
Het |
| Ptges3l |
T |
C |
11: 101,314,616 (GRCm39) |
E93G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,756,360 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Rbm48 |
T |
C |
5: 3,641,739 (GRCm39) |
T169A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,087,435 (GRCm39) |
N25Y |
probably damaging |
Het |
| Tmod4 |
A |
T |
3: 95,032,891 (GRCm39) |
E9V |
probably damaging |
Het |
|
| Other mutations in Tekt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Tekt3
|
APN |
11 |
62,961,064 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01469:Tekt3
|
APN |
11 |
62,964,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Tekt3
|
APN |
11 |
62,974,766 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1517:Tekt3
|
UTSW |
11 |
62,961,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Tekt3
|
UTSW |
11 |
62,978,024 (GRCm39) |
splice site |
probably null |
|
|
R1750:Tekt3
|
UTSW |
11 |
62,960,867 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2087:Tekt3
|
UTSW |
11 |
62,985,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2174:Tekt3
|
UTSW |
11 |
62,985,514 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2249:Tekt3
|
UTSW |
11 |
62,974,778 (GRCm39) |
missense |
probably benign |
|
|
R4835:Tekt3
|
UTSW |
11 |
62,972,085 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5198:Tekt3
|
UTSW |
11 |
62,961,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Tekt3
|
UTSW |
11 |
62,985,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5518:Tekt3
|
UTSW |
11 |
62,974,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5946:Tekt3
|
UTSW |
11 |
62,985,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6150:Tekt3
|
UTSW |
11 |
62,985,483 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6191:Tekt3
|
UTSW |
11 |
62,968,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6547:Tekt3
|
UTSW |
11 |
62,961,304 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6597:Tekt3
|
UTSW |
11 |
62,972,085 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7259:Tekt3
|
UTSW |
11 |
62,974,592 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7578:Tekt3
|
UTSW |
11 |
62,985,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7878:Tekt3
|
UTSW |
11 |
62,961,277 (GRCm39) |
nonsense |
probably null |
|
|
R8056:Tekt3
|
UTSW |
11 |
62,974,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8082:Tekt3
|
UTSW |
11 |
62,961,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8104:Tekt3
|
UTSW |
11 |
62,968,945 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8865:Tekt3
|
UTSW |
11 |
62,961,058 (GRCm39) |
missense |
probably benign |
|
|
R8917:Tekt3
|
UTSW |
11 |
62,978,052 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9013:Tekt3
|
UTSW |
11 |
62,974,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9039:Tekt3
|
UTSW |
11 |
62,972,169 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2012-12-06 |
Incidental Mutation