Incidental Mutation 'R1136:Tedc2'
ID |
95083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tedc2
|
Ensembl Gene |
ENSMUSG00000024118 |
Gene Name |
tubulin epsilon and delta complex 2 |
Synonyms |
1600002H07Rik |
MMRRC Submission |
039209-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
R1136 (G1)
|
Quality Score |
136 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 24435292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 366
(E366*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024930
AA Change: E366*
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118 AA Change: E366*
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
low complexity region
|
78 |
84 |
N/A |
INTRINSIC |
low complexity region
|
111 |
131 |
N/A |
INTRINSIC |
Pfam:DUF4693
|
150 |
434 |
8.6e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124557
|
SMART Domains |
Protein: ENSMUSP00000119405 Gene: ENSMUSG00000024118
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171563
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
C |
T |
13: 68,878,436 (GRCm39) |
G401S |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,847 (GRCm39) |
F133L |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,978,670 (GRCm39) |
E290G |
probably damaging |
Het |
Ccdc180 |
C |
A |
4: 45,914,589 (GRCm39) |
D701E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,539,213 (GRCm39) |
I1508N |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,862,329 (GRCm39) |
R80G |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,449,902 (GRCm39) |
V805D |
possibly damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
A |
13: 64,016,934 (GRCm39) |
V679D |
possibly damaging |
Het |
Esp6 |
T |
C |
17: 40,876,284 (GRCm39) |
Y111H |
probably benign |
Het |
Focad |
T |
C |
4: 88,244,417 (GRCm39) |
F799S |
unknown |
Het |
Foxred1 |
C |
A |
9: 35,116,333 (GRCm39) |
M438I |
probably benign |
Het |
Galnt11 |
T |
G |
5: 25,463,943 (GRCm39) |
V405G |
probably damaging |
Het |
Gm4847 |
A |
G |
1: 166,457,935 (GRCm39) |
Y473H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,115 (GRCm39) |
T461M |
probably damaging |
Het |
Hnrnpu |
A |
T |
1: 178,158,790 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,755,646 (GRCm39) |
|
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,948 (GRCm39) |
H291R |
probably damaging |
Het |
Mfsd14b |
C |
T |
13: 65,243,506 (GRCm39) |
S46N |
probably benign |
Het |
Mtch1 |
C |
T |
17: 29,552,744 (GRCm39) |
|
probably null |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mylk |
T |
C |
16: 34,820,688 (GRCm39) |
I1880T |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,965,815 (GRCm39) |
L1288P |
probably damaging |
Het |
Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,654,049 (GRCm39) |
|
probably benign |
Het |
Npdc1 |
G |
T |
2: 25,297,727 (GRCm39) |
A127S |
probably benign |
Het |
Nudt3 |
C |
A |
17: 27,842,080 (GRCm39) |
R27L |
probably benign |
Het |
Nwd1 |
C |
T |
8: 73,424,397 (GRCm39) |
|
probably benign |
Het |
Pex7 |
T |
A |
10: 19,764,434 (GRCm39) |
I170F |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,902 (GRCm39) |
V57A |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,053 (GRCm39) |
P1687S |
possibly damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,654 (GRCm39) |
|
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,968 (GRCm39) |
L312H |
probably damaging |
Het |
Samsn1 |
T |
C |
16: 75,670,408 (GRCm39) |
I232V |
probably null |
Het |
Sec63 |
A |
T |
10: 42,682,542 (GRCm39) |
D411V |
probably damaging |
Het |
Slc44a4 |
C |
T |
17: 35,146,998 (GRCm39) |
H343Y |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tent2 |
C |
T |
13: 93,312,205 (GRCm39) |
|
probably null |
Het |
Tmtc3 |
A |
G |
10: 100,307,905 (GRCm39) |
|
probably benign |
Het |
Trafd1 |
C |
T |
5: 121,511,387 (GRCm39) |
R477H |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,033,626 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,549 (GRCm39) |
D578V |
possibly damaging |
Het |
Wdcp |
G |
A |
12: 4,901,655 (GRCm39) |
V504I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,423,196 (GRCm39) |
Y487H |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,441,846 (GRCm39) |
H147R |
probably damaging |
Het |
|
Other mutations in Tedc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01963:Tedc2
|
APN |
17 |
24,436,926 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02111:Tedc2
|
APN |
17 |
24,437,140 (GRCm39) |
splice site |
probably benign |
|
IGL02347:Tedc2
|
APN |
17 |
24,439,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03400:Tedc2
|
APN |
17 |
24,438,777 (GRCm39) |
missense |
probably benign |
|
R0766:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R0766:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1066:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1066:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1067:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1067:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1085:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1085:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1086:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1086:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1137:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1137:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1345:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1345:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1385:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1396:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1891:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1891:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Tedc2
|
UTSW |
17 |
24,436,923 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1984:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1984:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1985:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1985:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1986:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R2026:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R2054:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2086:Tedc2
|
UTSW |
17 |
24,436,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R2317:Tedc2
|
UTSW |
17 |
24,435,358 (GRCm39) |
missense |
probably benign |
0.00 |
R3705:Tedc2
|
UTSW |
17 |
24,435,361 (GRCm39) |
missense |
probably benign |
0.30 |
R4085:Tedc2
|
UTSW |
17 |
24,438,813 (GRCm39) |
missense |
probably benign |
0.01 |
R4664:Tedc2
|
UTSW |
17 |
24,439,114 (GRCm39) |
splice site |
probably benign |
|
R4676:Tedc2
|
UTSW |
17 |
24,438,985 (GRCm39) |
missense |
probably benign |
|
R4686:Tedc2
|
UTSW |
17 |
24,436,862 (GRCm39) |
critical splice donor site |
probably null |
|
R4762:Tedc2
|
UTSW |
17 |
24,435,354 (GRCm39) |
missense |
probably benign |
0.05 |
R4837:Tedc2
|
UTSW |
17 |
24,439,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Tedc2
|
UTSW |
17 |
24,436,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R5936:Tedc2
|
UTSW |
17 |
24,435,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Tedc2
|
UTSW |
17 |
24,436,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Tedc2
|
UTSW |
17 |
24,435,328 (GRCm39) |
missense |
probably benign |
|
RF031:Tedc2
|
UTSW |
17 |
24,435,213 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Tedc2
|
UTSW |
17 |
24,439,545 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACTGCTTCTCCCGAGACTTAC -3'
(R):5'- TGCATACTACGGGCTGCTACACAC -3'
Sequencing Primer
(F):5'- TCCCGAGACTTACCCTGG -3'
(R):5'- ctgcctgcctctgcctc -3'
|
Posted On |
2014-01-05 |