Incidental Mutation 'R6498:Tekt2'
| ID |
523094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tekt2
|
| Ensembl Gene |
ENSMUSG00000028845 |
| Gene Name |
tektin 2 |
| Synonyms |
tektin-t |
| MMRRC Submission |
044630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126215914-126219481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126218098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 138
(L138P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030658]
[ENSMUST00000102616]
[ENSMUST00000102617]
[ENSMUST00000131113]
[ENSMUST00000141990]
|
| AlphaFold |
Q922G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030658
AA Change: L138P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: L138P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
17 |
399 |
2.1e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102616
AA Change: L138P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: L138P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
17 |
398 |
1.9e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102617
|
| SMART Domains |
Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:ADP_ribosyl_GH
|
31 |
344 |
1.5e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128188
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131113
|
| SMART Domains |
Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
17 |
126 |
9.7e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156139
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (37/37) |
| 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 expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit male infertility and impaired motility of both sperm flagella and tracheal cilia due to altered dynein inner arm morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Gene trapped(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
| Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
| Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
| Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
| Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
| Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
| Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
| Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
| Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
| Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
| Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
| Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
| Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
| Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
Het |
|
| Other mutations in Tekt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Tekt2
|
APN |
4 |
126,216,982 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01900:Tekt2
|
APN |
4 |
126,218,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02452:Tekt2
|
APN |
4 |
126,218,645 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02563:Tekt2
|
APN |
4 |
126,218,418 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03087:Tekt2
|
APN |
4 |
126,218,660 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
1mM(1):Tekt2
|
UTSW |
4 |
126,218,403 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0747:Tekt2
|
UTSW |
4 |
126,217,553 (GRCm39) |
nonsense |
probably null |
|
|
R1113:Tekt2
|
UTSW |
4 |
126,218,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1308:Tekt2
|
UTSW |
4 |
126,218,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1524:Tekt2
|
UTSW |
4 |
126,217,442 (GRCm39) |
missense |
probably benign |
|
|
R1563:Tekt2
|
UTSW |
4 |
126,217,200 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1819:Tekt2
|
UTSW |
4 |
126,217,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1930:Tekt2
|
UTSW |
4 |
126,216,610 (GRCm39) |
splice site |
probably null |
|
|
R1931:Tekt2
|
UTSW |
4 |
126,216,610 (GRCm39) |
splice site |
probably null |
|
|
R2295:Tekt2
|
UTSW |
4 |
126,217,486 (GRCm39) |
splice site |
probably null |
|
|
R4888:Tekt2
|
UTSW |
4 |
126,218,460 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4902:Tekt2
|
UTSW |
4 |
126,217,263 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5202:Tekt2
|
UTSW |
4 |
126,218,463 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5219:Tekt2
|
UTSW |
4 |
126,216,057 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5839:Tekt2
|
UTSW |
4 |
126,216,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Tekt2
|
UTSW |
4 |
126,216,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6963:Tekt2
|
UTSW |
4 |
126,218,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6988:Tekt2
|
UTSW |
4 |
126,217,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7148:Tekt2
|
UTSW |
4 |
126,216,174 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8977:Tekt2
|
UTSW |
4 |
126,217,266 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9340:Tekt2
|
UTSW |
4 |
126,216,952 (GRCm39) |
missense |
probably benign |
|
|
R9563:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Tekt2
|
UTSW |
4 |
126,218,693 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9619:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9668:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Tekt2
|
UTSW |
4 |
126,217,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAATATCTCCTGCCAGAAGG -3'
(R):5'- GATCTGGACACCATTCCCTCTG -3'
Sequencing Primer
(F):5'- CCAGAAGGCTGTGAGGGAC -3'
(R):5'- GGACACCATTCCCTCTGCTGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation