Incidental Mutation 'IGL01632:Tektl1'
| ID |
93503 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tektl1
|
| Ensembl Gene |
ENSMUSG00000078442 |
| Gene Name |
tektin like 1 |
| Synonyms |
Ccdc105, 4931413A09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78582760-78588899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78584536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 329
(S329G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105383]
|
| AlphaFold |
Q9D4K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105383
AA Change: S329G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: S329G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tektin
|
115 |
470 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210562
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,928 (GRCm39) |
C1724S |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,439,795 (GRCm39) |
M1T |
probably null |
Het |
| Antxrl |
A |
G |
14: 33,789,904 (GRCm39) |
N332S |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,899 (GRCm39) |
R49G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,741,452 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,733,202 (GRCm39) |
A102D |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,755,559 (GRCm39) |
E1029G |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,394,765 (GRCm39) |
I581N |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,092 (GRCm39) |
V406A |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,924,707 (GRCm39) |
R3960Q |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,615,135 (GRCm39) |
D732G |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,853,008 (GRCm39) |
V499L |
probably benign |
Het |
| Gm43191 |
A |
T |
3: 116,445,116 (GRCm39) |
H39Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,242,084 (GRCm39) |
K606R |
probably damaging |
Het |
| Klk1b27 |
C |
T |
7: 43,706,097 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,676,672 (GRCm39) |
|
probably benign |
Het |
| Mup14 |
A |
T |
4: 61,259,383 (GRCm39) |
F56L |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,881,874 (GRCm39) |
K39E |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,576 (GRCm39) |
N263Y |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,714 (GRCm39) |
I228T |
probably benign |
Het |
| Ppp1r3a |
T |
A |
6: 14,754,810 (GRCm39) |
I146F |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,854 (GRCm39) |
I759T |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,669 (GRCm39) |
I819T |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,925,740 (GRCm39) |
V322A |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,950,030 (GRCm39) |
V87A |
possibly damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,511,783 (GRCm39) |
V303A |
possibly damaging |
Het |
| Taok3 |
T |
A |
5: 117,403,993 (GRCm39) |
F723I |
possibly damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,366 (GRCm39) |
*307R |
probably null |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,280 (GRCm39) |
I85V |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,724 (GRCm39) |
I123T |
probably damaging |
Het |
|
| Other mutations in Tektl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00858:Tektl1
|
APN |
10 |
78,586,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:Tektl1
|
APN |
10 |
78,586,428 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02606:Tektl1
|
APN |
10 |
78,584,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03356:Tektl1
|
APN |
10 |
78,582,966 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0096:Tektl1
|
UTSW |
10 |
78,584,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0096:Tektl1
|
UTSW |
10 |
78,584,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0666:Tektl1
|
UTSW |
10 |
78,586,381 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1756:Tektl1
|
UTSW |
10 |
78,583,031 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1757:Tektl1
|
UTSW |
10 |
78,583,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1765:Tektl1
|
UTSW |
10 |
78,584,502 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1956:Tektl1
|
UTSW |
10 |
78,586,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2305:Tektl1
|
UTSW |
10 |
78,584,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Tektl1
|
UTSW |
10 |
78,584,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Tektl1
|
UTSW |
10 |
78,584,532 (GRCm39) |
missense |
probably benign |
|
|
R4023:Tektl1
|
UTSW |
10 |
78,588,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4808:Tektl1
|
UTSW |
10 |
78,588,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4812:Tektl1
|
UTSW |
10 |
78,585,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5391:Tektl1
|
UTSW |
10 |
78,588,688 (GRCm39) |
nonsense |
probably null |
|
|
R5434:Tektl1
|
UTSW |
10 |
78,584,484 (GRCm39) |
nonsense |
probably null |
|
|
R6382:Tektl1
|
UTSW |
10 |
78,588,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6743:Tektl1
|
UTSW |
10 |
78,588,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6749:Tektl1
|
UTSW |
10 |
78,588,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7177:Tektl1
|
UTSW |
10 |
78,588,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Tektl1
|
UTSW |
10 |
78,584,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8504:Tektl1
|
UTSW |
10 |
78,586,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Tektl1
|
UTSW |
10 |
78,585,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8558:Tektl1
|
UTSW |
10 |
78,583,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Tektl1
|
UTSW |
10 |
78,588,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Tektl1
|
UTSW |
10 |
78,588,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Tektl1
|
UTSW |
10 |
78,588,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Tektl1
|
UTSW |
10 |
78,588,234 (GRCm39) |
splice site |
probably benign |
|
|
R9407:Tektl1
|
UTSW |
10 |
78,583,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0057:Tektl1
|
UTSW |
10 |
78,586,375 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation