Incidental Mutation 'R4023:Tektl1'
ID |
313354 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tektl1
|
Ensembl Gene |
ENSMUSG00000078442 |
Gene Name |
tektin like 1 |
Synonyms |
Ccdc105, 4931413A09Rik |
MMRRC Submission |
040957-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4023 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78582760-78588899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78588727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 28
(T28A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105383]
|
AlphaFold |
Q9D4K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105383
AA Change: T28A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000101022 Gene: ENSMUSG00000078442 AA Change: T28A
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
Acad8 |
T |
C |
9: 26,890,481 (GRCm39) |
I276V |
probably benign |
Het |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Depdc1a |
G |
A |
3: 159,221,786 (GRCm39) |
|
probably null |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
Or8c17 |
G |
A |
9: 38,180,757 (GRCm39) |
C308Y |
possibly damaging |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCATAGGGTGACGCCTTCTC -3'
(R):5'- GCAATCTCCATGGTTGTCCTGG -3'
Sequencing Primer
(F):5'- CGGGCGGTGGCTTTTCC -3'
(R):5'- TCTGGGAGCACGCATTCTAG -3'
|
Posted On |
2015-04-30 |