Incidental Mutation 'R1067:Tedc2'
| ID |
86069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tedc2
|
| Ensembl Gene |
ENSMUSG00000024118 |
| Gene Name |
tubulin epsilon and delta complex 2 |
| Synonyms |
1600002H07Rik |
| MMRRC Submission |
039153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.823)
|
| Stock # |
R1067 (G1)
|
| Quality Score |
90 |
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,957,018 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,793 (GRCm39) |
C420* |
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,893 (GRCm39) |
G346S |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,979,529 (GRCm39) |
Q218L |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,039,034 (GRCm39) |
|
probably benign |
Het |
| Defb41 |
A |
G |
1: 18,335,248 (GRCm39) |
|
probably null |
Het |
| Edc4 |
C |
A |
8: 106,617,637 (GRCm39) |
T1094K |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
| G3bp2 |
A |
T |
5: 92,211,187 (GRCm39) |
|
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,639,204 (GRCm39) |
N888K |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,373,576 (GRCm39) |
T1471M |
probably benign |
Het |
| Kpna6 |
G |
T |
4: 129,541,896 (GRCm39) |
H500Q |
probably benign |
Het |
| Krt78 |
G |
A |
15: 101,854,896 (GRCm39) |
Q972* |
probably null |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,589 (GRCm39) |
C97S |
unknown |
Het |
| Mapk10 |
T |
A |
5: 103,139,723 (GRCm39) |
|
probably benign |
Het |
| Mybphl |
A |
G |
3: 108,272,319 (GRCm39) |
T3A |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 55,966,141 (GRCm39) |
I378V |
probably damaging |
Het |
| Or7a39 |
T |
A |
10: 78,715,517 (GRCm39) |
C170* |
probably null |
Het |
| Pax6 |
C |
A |
2: 105,510,646 (GRCm39) |
Q2K |
probably benign |
Het |
| Plxna2 |
C |
A |
1: 194,462,818 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
A |
G |
12: 111,801,550 (GRCm39) |
L378P |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,570,646 (GRCm39) |
E2310K |
probably damaging |
Het |
| Pth2r |
G |
A |
1: 65,411,507 (GRCm39) |
G348E |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,436,769 (GRCm38) |
I251V |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,434,376 (GRCm39) |
L637P |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Syt1 |
A |
T |
10: 108,472,523 (GRCm39) |
D120E |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,329,905 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,745 (GRCm39) |
C191Y |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,952,968 (GRCm39) |
K691E |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,728,646 (GRCm39) |
V98E |
probably damaging |
Het |
| Tspan3 |
A |
G |
9: 56,068,104 (GRCm39) |
F15L |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,759 (GRCm39) |
L427S |
probably damaging |
Het |
| Upf1 |
A |
C |
8: 70,791,053 (GRCm39) |
M574R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,282,404 (GRCm39) |
V1931E |
probably benign |
Het |
| Zfp3 |
T |
C |
11: 70,663,411 (GRCm39) |
S457P |
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 |
24,435,291 (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 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-11-18 |
Incidental Mutation