Incidental Mutation 'IGL03400:Tedc2'
ID |
421390 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tedc2
|
Ensembl Gene |
ENSMUSG00000024118 |
Gene Name |
tubulin epsilon and delta complex 2 |
Synonyms |
1600002H07Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
IGL03400
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24438777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 180
(D180G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
[ENSMUST00000115390]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024930
AA Change: D180G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118 AA Change: D180G
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: ENSMUST00000115390
|
SMART Domains |
Protein: ENSMUSP00000111048 Gene: ENSMUSG00000072082
Domain | Start | End | E-Value | Type |
FBOX
|
35 |
75 |
1.56e-6 |
SMART |
CYCLIN
|
315 |
399 |
2.25e-13 |
SMART |
Cyclin_C
|
408 |
531 |
2.58e-19 |
SMART |
CYCLIN
|
416 |
494 |
2.27e-9 |
SMART |
low complexity region
|
545 |
555 |
N/A |
INTRINSIC |
low complexity region
|
563 |
574 |
N/A |
INTRINSIC |
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
low complexity region
|
719 |
731 |
N/A |
INTRINSIC |
|
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: ENSMUST00000171563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149916
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
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 |
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 |
24,435,292 (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 |
|
Posted On |
2016-08-02 |