Incidental Mutation 'R2054:Tedc2'
ID |
226547 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tedc2
|
Ensembl Gene |
ENSMUSG00000024118 |
Gene Name |
tubulin epsilon and delta complex 2 |
Synonyms |
1600002H07Rik |
MMRRC Submission |
040059-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
R2054 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24435291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 366
(E366V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024930
AA Change: E366V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118 AA Change: E366V
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 |
0.4034 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,562 (GRCm39) |
C94S |
possibly damaging |
Het |
A930011G23Rik |
T |
C |
5: 99,375,914 (GRCm39) |
Y432C |
probably benign |
Het |
Abtb2 |
A |
G |
2: 103,535,462 (GRCm39) |
D543G |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,481,310 (GRCm39) |
V318E |
probably damaging |
Het |
Aim2 |
T |
C |
1: 173,291,548 (GRCm39) |
F318L |
probably damaging |
Het |
Apob |
A |
T |
12: 8,063,134 (GRCm39) |
D3872V |
probably damaging |
Het |
Atat1 |
T |
A |
17: 36,212,261 (GRCm39) |
R323W |
probably null |
Het |
Atp2b4 |
T |
C |
1: 133,642,907 (GRCm39) |
D1066G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,002,002 (GRCm39) |
T1316A |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,697,127 (GRCm39) |
|
probably benign |
Het |
Cblif |
G |
A |
19: 11,736,370 (GRCm39) |
V314I |
probably benign |
Het |
Ccdc54 |
T |
A |
16: 50,410,987 (GRCm39) |
N93I |
probably damaging |
Het |
Ccnd1 |
A |
C |
7: 144,491,128 (GRCm39) |
D159E |
possibly damaging |
Het |
Cnot1 |
A |
C |
8: 96,466,469 (GRCm39) |
S1589R |
possibly damaging |
Het |
Copa |
T |
A |
1: 171,946,524 (GRCm39) |
Y980* |
probably null |
Het |
Defb19 |
A |
G |
2: 152,418,090 (GRCm39) |
I82T |
possibly damaging |
Het |
Elapor2 |
C |
A |
5: 9,513,030 (GRCm39) |
T1008K |
possibly damaging |
Het |
Fiz1 |
G |
A |
7: 5,011,235 (GRCm39) |
R428C |
probably damaging |
Het |
Fnip2 |
A |
T |
3: 79,479,772 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
G |
A |
7: 57,474,241 (GRCm39) |
G408S |
probably benign |
Het |
Hao1 |
C |
T |
2: 134,340,178 (GRCm39) |
|
silent |
Het |
Hecw1 |
T |
A |
13: 14,471,998 (GRCm39) |
M557L |
probably damaging |
Het |
Itch |
A |
T |
2: 155,052,496 (GRCm39) |
I699F |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,734,671 (GRCm39) |
|
probably benign |
Het |
Leng8 |
T |
G |
7: 4,147,289 (GRCm39) |
Y562* |
probably null |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,587,494 (GRCm39) |
N151K |
unknown |
Het |
Lrrc71 |
T |
C |
3: 87,649,980 (GRCm39) |
E316G |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,325,344 (GRCm39) |
N404D |
probably damaging |
Het |
Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
Mtor |
A |
G |
4: 148,547,309 (GRCm39) |
T431A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,550,482 (GRCm39) |
C713S |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,054,451 (GRCm39) |
K1077E |
probably damaging |
Het |
Nbas |
A |
G |
12: 13,524,207 (GRCm39) |
T1688A |
probably benign |
Het |
Nek2 |
T |
C |
1: 191,553,764 (GRCm39) |
S3P |
possibly damaging |
Het |
Nell2 |
T |
C |
15: 95,332,990 (GRCm39) |
T190A |
probably benign |
Het |
Npr2 |
A |
T |
4: 43,646,560 (GRCm39) |
N636I |
probably damaging |
Het |
Orc3 |
A |
T |
4: 34,584,846 (GRCm39) |
I453K |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,980,448 (GRCm39) |
H865R |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,653,341 (GRCm39) |
V80A |
possibly damaging |
Het |
Phka2 |
T |
A |
X: 159,337,323 (GRCm39) |
D424E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,793,770 (GRCm39) |
T1819I |
probably benign |
Het |
Poglut1 |
T |
C |
16: 38,355,169 (GRCm39) |
D219G |
probably damaging |
Het |
Ppargc1a |
T |
C |
5: 51,631,130 (GRCm39) |
I500V |
possibly damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Pygm |
C |
G |
19: 6,438,185 (GRCm39) |
N163K |
probably benign |
Het |
Qrich1 |
T |
A |
9: 108,436,469 (GRCm39) |
N722K |
possibly damaging |
Het |
Reep6 |
T |
A |
10: 80,166,156 (GRCm39) |
C104* |
probably null |
Het |
Rfx8 |
A |
G |
1: 39,724,719 (GRCm39) |
V214A |
possibly damaging |
Het |
Sis |
G |
A |
3: 72,820,570 (GRCm39) |
T1398I |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,676,360 (GRCm39) |
|
probably null |
Het |
Slc7a14 |
A |
G |
3: 31,291,511 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,462,948 (GRCm39) |
M646K |
probably benign |
Het |
Snx29 |
A |
G |
16: 11,449,356 (GRCm39) |
N165S |
probably damaging |
Het |
Supt6 |
T |
A |
11: 78,115,187 (GRCm39) |
|
probably benign |
Het |
Tead4 |
G |
T |
6: 128,247,925 (GRCm39) |
S37R |
probably damaging |
Het |
Tex56 |
T |
A |
13: 35,108,574 (GRCm39) |
Y19N |
probably damaging |
Het |
Tff2 |
T |
C |
17: 31,362,199 (GRCm39) |
K40E |
probably benign |
Het |
Traip |
C |
T |
9: 107,840,118 (GRCm39) |
T265M |
probably benign |
Het |
Trim47 |
T |
C |
11: 115,999,109 (GRCm39) |
T256A |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,890,303 (GRCm39) |
M853V |
possibly damaging |
Het |
Tti1 |
G |
T |
2: 157,849,365 (GRCm39) |
Q625K |
possibly damaging |
Het |
Ube2n |
A |
G |
10: 95,377,128 (GRCm39) |
N31S |
probably damaging |
Het |
Vmn2r17 |
T |
C |
5: 109,600,352 (GRCm39) |
M550T |
probably damaging |
Het |
Zfp512 |
T |
A |
5: 31,622,793 (GRCm39) |
N31K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,767,728 (GRCm39) |
V628A |
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 |
24,435,292 (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 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
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'- ATCCTGGCCATGAGGATGTC -3'
(R):5'- ACCTTGGTGATGGCTGTCAC -3'
Sequencing Primer
(F):5'- ATGAGGATGTCCCAGCTCACATG -3'
(R):5'- TGATGGCTGTCACCCCATGAG -3'
|
Posted On |
2014-09-17 |