Incidental Mutation 'R2305:Tektl1'
| ID |
244564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tektl1
|
| Ensembl Gene |
ENSMUSG00000078442 |
| Gene Name |
tektin like 1 |
| Synonyms |
Ccdc105, 4931413A09Rik |
| MMRRC Submission |
040304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78582760-78588899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78584336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 360
(T360A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105383]
|
| AlphaFold |
Q9D4K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105383
AA Change: T360A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: T360A
| 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
|
| Meta Mutation Damage Score |
0.1421 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
C |
A |
2: 58,171,711 (GRCm39) |
D295Y |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,062,764 (GRCm39) |
D406G |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,775,979 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,646,411 (GRCm39) |
K1828I |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,743,236 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,791 (GRCm39) |
L89Q |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,387,913 (GRCm39) |
E3124V |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,719,718 (GRCm39) |
T67A |
possibly damaging |
Het |
| Exo1 |
C |
T |
1: 175,716,327 (GRCm39) |
P148L |
probably damaging |
Het |
| Hps4 |
A |
G |
5: 112,494,527 (GRCm39) |
I37V |
probably damaging |
Het |
| Krt9 |
T |
A |
11: 100,083,942 (GRCm39) |
M30L |
unknown |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Or10ak12 |
T |
G |
4: 118,666,058 (GRCm39) |
Q318H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,451 (GRCm39) |
E15G |
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,844,556 (GRCm39) |
Q1468* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,770,431 (GRCm39) |
K900R |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,715,990 (GRCm39) |
H755Y |
probably benign |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,284 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
C |
A |
5: 110,922,826 (GRCm39) |
M232I |
probably benign |
Het |
| Serpina3a |
C |
A |
12: 104,082,787 (GRCm39) |
Q187K |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,997,573 (GRCm39) |
E465K |
probably damaging |
Het |
| Tlk2 |
T |
G |
11: 105,132,417 (GRCm39) |
I217R |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,338 (GRCm39) |
D377G |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,146,195 (GRCm39) |
D866G |
probably damaging |
Het |
| Tubd1 |
T |
A |
11: 86,446,017 (GRCm39) |
I219N |
probably benign |
Het |
| Ugt3a1 |
C |
A |
15: 9,351,203 (GRCm39) |
P71T |
probably benign |
Het |
| Vmn1r64 |
A |
G |
7: 5,887,535 (GRCm39) |
S3P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACCAAGGGTCTGTTCAG -3'
(R):5'- ATAAGCAACCGTGTATGCTCCTC -3'
Sequencing Primer
(F):5'- GAACCAAGGGTCTGTTCAGTTTCTC -3'
(R):5'- CGTGTATGCTCCTCGCTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation