Incidental Mutation 'R1190:Tekt1'
| ID |
100745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tekt1
|
| Ensembl Gene |
ENSMUSG00000020799 |
| Gene Name |
tektin 1 |
| Synonyms |
MT14 |
| MMRRC Submission |
039262-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72235548-72253268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72246039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 161
(I161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021155]
[ENSMUST00000108502]
[ENSMUST00000108503]
|
| AlphaFold |
Q9DAJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021155
AA Change: I161N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021155
Gene: ENSMUSG00000020799
AA Change: I161N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
398 |
1.3e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108502
AA Change: I161N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104142
Gene: ENSMUSG00000020799
AA Change: I161N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
399 |
5.5e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108503
AA Change: I161N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104143
Gene: ENSMUSG00000020799
AA Change: I161N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
399 |
5.5e-152 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
| 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. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
T |
C |
14: 33,791,207 (GRCm39) |
F367L |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,933,001 (GRCm39) |
R3586W |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 67,061,850 (GRCm39) |
V252A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,771,497 (GRCm39) |
S208P |
possibly damaging |
Het |
| Elk3 |
T |
C |
10: 93,101,058 (GRCm39) |
N231S |
probably benign |
Het |
| Ephx1 |
A |
T |
1: 180,821,494 (GRCm39) |
M280K |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,959,373 (GRCm39) |
M138T |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,666,659 (GRCm39) |
Y593N |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lep |
G |
T |
6: 29,071,173 (GRCm39) |
E166* |
probably null |
Het |
| Limch1 |
A |
G |
5: 67,126,540 (GRCm39) |
D56G |
probably damaging |
Het |
| Or4d10c |
G |
T |
19: 12,066,051 (GRCm39) |
T35K |
possibly damaging |
Het |
| Pkn2 |
A |
T |
3: 142,517,286 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,228,071 (GRCm39) |
Y512H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,385,934 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
C |
3: 36,725,497 (GRCm39) |
N160D |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,440,107 (GRCm39) |
S264P |
probably damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,726 (GRCm39) |
A148V |
probably damaging |
Het |
|
| Other mutations in Tekt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4544001:Tekt1
|
UTSW |
11 |
72,245,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Tekt1
|
UTSW |
11 |
72,242,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Tekt1
|
UTSW |
11 |
72,236,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1908:Tekt1
|
UTSW |
11 |
72,242,761 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3783:Tekt1
|
UTSW |
11 |
72,235,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Tekt1
|
UTSW |
11 |
72,235,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3785:Tekt1
|
UTSW |
11 |
72,235,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Tekt1
|
UTSW |
11 |
72,235,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Tekt1
|
UTSW |
11 |
72,245,645 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3832:Tekt1
|
UTSW |
11 |
72,245,645 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3833:Tekt1
|
UTSW |
11 |
72,245,645 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3916:Tekt1
|
UTSW |
11 |
72,236,574 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3917:Tekt1
|
UTSW |
11 |
72,236,574 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5645:Tekt1
|
UTSW |
11 |
72,242,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7740:Tekt1
|
UTSW |
11 |
72,250,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8472:Tekt1
|
UTSW |
11 |
72,242,850 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Tekt1
|
UTSW |
11 |
72,236,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Tekt1
|
UTSW |
11 |
72,250,597 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAATCCTCTGCCAAACTGGACTG -3'
(R):5'- TCAGGTTTCTGCACACCTTTGGG -3'
Sequencing Primer
(F):5'- CTGGACTGAGAGATCAGAGTG -3'
(R):5'- TATTTTGAAGAGGCACAGGCAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation