Incidental Mutation 'IGL02473:Tektl1'
ID |
294820 |
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 # |
IGL02473
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
78582760-78588899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78586428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 208
(S208T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105383]
|
AlphaFold |
Q9D4K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105383
AA Change: S208T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000101022 Gene: ENSMUSG00000078442 AA Change: S208T
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
G |
A |
5: 48,545,440 (GRCm39) |
|
probably benign |
Het |
9030624G23Rik |
A |
G |
12: 24,094,853 (GRCm39) |
F106S |
probably benign |
Het |
A930011G23Rik |
T |
C |
5: 99,370,854 (GRCm39) |
Y468C |
probably damaging |
Het |
Abcd3 |
T |
C |
3: 121,562,893 (GRCm39) |
T515A |
possibly damaging |
Het |
Acrbp |
A |
G |
6: 125,031,661 (GRCm39) |
T321A |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,141 (GRCm39) |
Y398C |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,790,407 (GRCm39) |
D602V |
probably benign |
Het |
Ccdc191 |
T |
C |
16: 43,777,257 (GRCm39) |
V714A |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntn2 |
A |
G |
1: 132,446,069 (GRCm39) |
L839P |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,377,304 (GRCm39) |
I428V |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,273,353 (GRCm39) |
T2494S |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,519,104 (GRCm39) |
Y348* |
probably null |
Het |
Dnajb3 |
C |
A |
1: 88,133,104 (GRCm39) |
E99D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,071,163 (GRCm39) |
F411L |
probably benign |
Het |
L3mbtl4 |
A |
T |
17: 68,866,772 (GRCm39) |
Y337F |
possibly damaging |
Het |
Lias |
A |
G |
5: 65,562,745 (GRCm39) |
T258A |
possibly damaging |
Het |
Lipk |
T |
A |
19: 34,016,548 (GRCm39) |
C254S |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,297 (GRCm39) |
L596S |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,597,385 (GRCm39) |
E703G |
possibly damaging |
Het |
Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,640 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4b1b |
T |
C |
2: 90,112,040 (GRCm39) |
K293R |
probably null |
Het |
Pcgf2 |
A |
G |
11: 97,582,747 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,638,805 (GRCm39) |
|
probably null |
Het |
Rnf111 |
A |
G |
9: 70,348,140 (GRCm39) |
V810A |
probably damaging |
Het |
Rpl23a-ps1 |
A |
T |
1: 46,020,951 (GRCm39) |
|
noncoding transcript |
Het |
Smc3 |
C |
A |
19: 53,624,879 (GRCm39) |
A779E |
probably benign |
Het |
Smtn |
C |
T |
11: 3,482,463 (GRCm39) |
G140D |
probably damaging |
Het |
Son |
T |
C |
16: 91,455,683 (GRCm39) |
S1477P |
probably damaging |
Het |
Strn |
T |
C |
17: 78,991,722 (GRCm39) |
D20G |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,936,736 (GRCm39) |
L2798P |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,775,896 (GRCm39) |
N1715K |
probably damaging |
Het |
Vps33a |
A |
T |
5: 123,707,634 (GRCm39) |
I111N |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zscan4d |
A |
T |
7: 10,896,336 (GRCm39) |
C345S |
probably benign |
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 |
IGL01632:Tektl1
|
APN |
10 |
78,584,536 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2015-04-16 |