Incidental Mutation 'IGL00858:Tektl1'
| ID |
9424 |
| 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: 0.072)
|
| Stock # |
IGL00858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78582760-78588899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78586403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105383]
|
| AlphaFold |
Q9D4K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105383
AA Change: D216G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: D216G
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,967,537 (GRCm39) |
V988M |
probably damaging |
Het |
| Afap1l1 |
G |
A |
18: 61,869,925 (GRCm39) |
T635M |
probably benign |
Het |
| B4galnt1 |
A |
G |
10: 127,003,633 (GRCm39) |
T199A |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,499,783 (GRCm39) |
M378L |
probably benign |
Het |
| Ccser1 |
C |
A |
6: 61,787,649 (GRCm39) |
S134* |
probably null |
Het |
| Cluh |
A |
G |
11: 74,550,431 (GRCm39) |
K248E |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,554,219 (GRCm39) |
R129S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,296,100 (GRCm39) |
V138D |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,692 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,545,720 (GRCm39) |
N841S |
possibly damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,861,452 (GRCm39) |
I98N |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,455,217 (GRCm39) |
M3L |
probably benign |
Het |
| Mtch1 |
C |
T |
17: 29,559,430 (GRCm39) |
D74N |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,578,493 (GRCm39) |
V1588A |
probably damaging |
Het |
| Pbk |
T |
C |
14: 66,049,373 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
A |
T |
5: 145,088,092 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,029,241 (GRCm39) |
I438F |
probably damaging |
Het |
| Tas2r113 |
C |
A |
6: 132,870,115 (GRCm39) |
R48S |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,915,962 (GRCm39) |
|
probably null |
Het |
| Tnnt2 |
G |
A |
1: 135,779,440 (GRCm39) |
V277I |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,065 (GRCm39) |
W166L |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,644,987 (GRCm39) |
L580F |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,645,000 (GRCm39) |
E575D |
probably benign |
Het |
|
| Other mutations in Tektl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Tektl1
|
APN |
10 |
78,584,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-12-06 |
Incidental Mutation