Incidental Mutation 'PIT4544001:Tekt1'
| ID |
556421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tekt1
|
| Ensembl Gene |
ENSMUSG00000020799 |
| Gene Name |
tektin 1 |
| Synonyms |
MT14 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
PIT4544001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72235548-72253268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72245660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 165
(R165H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021155]
[ENSMUST00000108502]
[ENSMUST00000108503]
|
| AlphaFold |
Q9DAJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021155
AA Change: R165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021155
Gene: ENSMUSG00000020799
AA Change: R165H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
398 |
1.3e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108502
AA Change: R165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104142
Gene: ENSMUSG00000020799
AA Change: R165H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
399 |
5.5e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108503
AA Change: R165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104143
Gene: ENSMUSG00000020799
AA Change: R165H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
16 |
399 |
5.5e-152 |
PFAM |
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,222,943 (GRCm39) |
D248G |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,231,875 (GRCm39) |
M1358K |
possibly damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,596,157 (GRCm39) |
E60K |
probably damaging |
Het |
| Aff3 |
C |
T |
1: 38,249,443 (GRCm39) |
A555T |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,707,458 (GRCm39) |
K106* |
probably null |
Het |
| Atp8b3 |
A |
T |
10: 80,366,420 (GRCm39) |
L281Q |
probably benign |
Het |
| Ccdc54 |
A |
T |
16: 50,410,343 (GRCm39) |
C308S |
possibly damaging |
Het |
| Cpa1 |
T |
C |
6: 30,641,857 (GRCm39) |
V227A |
probably benign |
Het |
| Dld |
G |
A |
12: 31,385,556 (GRCm39) |
Q262* |
probably null |
Het |
| Eif4e3 |
A |
T |
6: 99,609,314 (GRCm39) |
W161R |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,471 (GRCm39) |
T178S |
possibly damaging |
Het |
| Erbb2 |
A |
T |
11: 98,311,865 (GRCm39) |
T134S |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,336,556 (GRCm39) |
E358D |
possibly damaging |
Het |
| Gon7 |
A |
T |
12: 102,720,409 (GRCm39) |
D74E |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,318,262 (GRCm39) |
E3869G |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,415 (GRCm39) |
M347I |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,165,949 (GRCm39) |
D331E |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,793,178 (GRCm39) |
C355Y |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,532,098 (GRCm38) |
S196P |
probably damaging |
Het |
| Nudt21 |
A |
T |
8: 94,746,225 (GRCm39) |
F158I |
unknown |
Het |
| Padi3 |
T |
C |
4: 140,518,794 (GRCm39) |
T443A |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,738,266 (GRCm39) |
I520V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,411 (GRCm39) |
S73P |
probably benign |
Het |
| Rfk |
T |
C |
19: 17,372,708 (GRCm39) |
S77P |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,941,987 (GRCm39) |
N545S |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,380,232 (GRCm39) |
N1349S |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,887,103 (GRCm39) |
Q262L |
probably damaging |
Het |
| Slc34a3 |
T |
C |
2: 25,120,607 (GRCm39) |
D440G |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,186,402 (GRCm39) |
L161P |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,693,048 (GRCm39) |
|
probably null |
Het |
| Tmpo |
T |
C |
10: 90,997,976 (GRCm39) |
N604D |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,848,998 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
C |
7: 103,790,550 (GRCm39) |
H513Q |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,129,871 (GRCm39) |
N664D |
possibly damaging |
Het |
| Usp37 |
G |
A |
1: 74,509,738 (GRCm39) |
T477I |
possibly damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,818,556 (GRCm39) |
L660* |
probably null |
Het |
|
| Other mutations in Tekt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1190:Tekt1
|
UTSW |
11 |
72,246,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTTGGCCCTGTCAGATTGATAG -3'
(R):5'- TGATCTCTCAGTCCAGTTTGG -3'
Sequencing Primer
(F):5'- CTGTCAGATTGATAGGATCCGG -3'
(R):5'- ATCTCTCAGTCCAGTTTGGCAGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation