Incidental Mutation 'IGL02111:Tedc2'
ID |
280177 |
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: 0.823)
|
Stock # |
IGL02111
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 24437140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024930
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
G |
A |
8: 95,761,627 (GRCm39) |
R130Q |
probably damaging |
Het |
Adipor2 |
A |
T |
6: 119,347,157 (GRCm39) |
L42* |
probably null |
Het |
Ankrd45 |
A |
G |
1: 160,990,921 (GRCm39) |
K259E |
probably damaging |
Het |
Apoc3 |
T |
C |
9: 46,145,772 (GRCm39) |
K79R |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,381,764 (GRCm39) |
Y416H |
probably damaging |
Het |
Armc5 |
A |
G |
7: 127,843,255 (GRCm39) |
T683A |
probably benign |
Het |
Bora |
T |
C |
14: 99,284,813 (GRCm39) |
V21A |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,497,003 (GRCm39) |
S2189N |
probably damaging |
Het |
Cct2 |
G |
A |
10: 116,889,017 (GRCm39) |
T57I |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,609,144 (GRCm39) |
N34Y |
probably damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,219 (GRCm39) |
|
probably benign |
Het |
Cntnap5a |
G |
A |
1: 116,017,082 (GRCm39) |
R225H |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,409,103 (GRCm39) |
D447V |
probably damaging |
Het |
Cpne7 |
T |
C |
8: 123,852,392 (GRCm39) |
|
probably benign |
Het |
Dap3 |
G |
A |
3: 88,836,725 (GRCm39) |
T92I |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
Egfem1 |
G |
A |
3: 29,705,045 (GRCm39) |
|
probably null |
Het |
Fam120b |
T |
C |
17: 15,622,847 (GRCm39) |
L275P |
possibly damaging |
Het |
Fam161a |
A |
T |
11: 22,970,026 (GRCm39) |
H68L |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,568,001 (GRCm39) |
E100G |
possibly damaging |
Het |
Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
Gm10136 |
T |
C |
19: 28,981,122 (GRCm39) |
K41E |
probably benign |
Het |
Gm10797 |
C |
T |
10: 67,408,397 (GRCm39) |
|
noncoding transcript |
Het |
Hsf1 |
A |
G |
15: 76,380,281 (GRCm39) |
|
probably benign |
Het |
Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,387,344 (GRCm39) |
H422R |
probably benign |
Het |
Lrp4 |
G |
T |
2: 91,336,404 (GRCm39) |
L1738F |
probably damaging |
Het |
Matcap2 |
T |
C |
9: 22,335,475 (GRCm39) |
I31T |
probably benign |
Het |
Mettl17 |
A |
G |
14: 52,128,843 (GRCm39) |
E371G |
probably damaging |
Het |
Mfsd6 |
A |
T |
1: 52,747,503 (GRCm39) |
L454Q |
probably damaging |
Het |
Myh10 |
A |
T |
11: 68,680,938 (GRCm39) |
E956V |
probably damaging |
Het |
Ncoa1 |
A |
T |
12: 4,324,944 (GRCm39) |
M1K |
probably null |
Het |
Or2d3c |
A |
C |
7: 106,525,823 (GRCm39) |
V281G |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,706,152 (GRCm39) |
D233G |
probably benign |
Het |
Or5d36 |
T |
A |
2: 87,901,571 (GRCm39) |
N52Y |
probably benign |
Het |
Otop1 |
T |
A |
5: 38,435,045 (GRCm39) |
C89S |
probably benign |
Het |
Pitrm1 |
G |
T |
13: 6,623,181 (GRCm39) |
R775L |
probably benign |
Het |
Prpf19 |
A |
G |
19: 10,882,458 (GRCm39) |
T512A |
probably benign |
Het |
Prpf4b |
T |
A |
13: 35,067,944 (GRCm39) |
S258T |
probably benign |
Het |
Rhbdl2 |
T |
C |
4: 123,716,630 (GRCm39) |
Y196H |
probably damaging |
Het |
Rnf187 |
T |
C |
11: 58,828,006 (GRCm39) |
D148G |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,279,782 (GRCm39) |
I74T |
probably damaging |
Het |
Sec63 |
T |
C |
10: 42,686,884 (GRCm39) |
V468A |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,139,758 (GRCm39) |
M23K |
probably damaging |
Het |
Slc6a9 |
A |
T |
4: 117,721,210 (GRCm39) |
Y208F |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,895,324 (GRCm39) |
L494Q |
probably damaging |
Het |
Sorcs1 |
T |
G |
19: 50,218,683 (GRCm39) |
M600L |
probably benign |
Het |
Supt7l |
T |
C |
5: 31,673,022 (GRCm39) |
|
probably null |
Het |
Tecrl |
T |
A |
5: 83,502,639 (GRCm39) |
Q70L |
probably damaging |
Het |
Tespa1 |
A |
G |
10: 130,191,353 (GRCm39) |
D99G |
probably damaging |
Het |
Tmem126b |
G |
T |
7: 90,118,269 (GRCm39) |
Q204K |
probably damaging |
Het |
Tmem181c-ps |
A |
T |
17: 6,887,766 (GRCm39) |
|
noncoding transcript |
Het |
Tmem184a |
G |
T |
5: 139,798,856 (GRCm39) |
T31K |
possibly damaging |
Het |
Tmprss11e |
T |
A |
5: 86,867,660 (GRCm39) |
I137F |
possibly damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,403 (GRCm39) |
T255I |
probably damaging |
Het |
Top1mt |
G |
A |
15: 75,537,555 (GRCm39) |
|
probably benign |
Het |
Treh |
C |
T |
9: 44,594,258 (GRCm39) |
T168I |
probably benign |
Het |
Ttn |
A |
T |
2: 76,597,672 (GRCm39) |
I11420N |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,731,641 (GRCm39) |
K705E |
possibly damaging |
Het |
Zw10 |
T |
C |
9: 48,980,054 (GRCm39) |
I395T |
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 |
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 |
24,435,292 (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 |
2015-04-16 |