Incidental Mutation 'R1943:Tedc2'
ID |
216405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tedc2
|
Ensembl Gene |
ENSMUSG00000024118 |
Gene Name |
tubulin epsilon and delta complex 2 |
Synonyms |
1600002H07Rik |
MMRRC Submission |
039961-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
R1943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24436923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 271
(R271W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024930
AA Change: R271W
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118 AA Change: R271W
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: ENSMUST00000171563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149916
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,645,506 (GRCm39) |
N1017S |
possibly damaging |
Het |
Abca8a |
T |
C |
11: 109,960,689 (GRCm39) |
I610V |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,040,900 (GRCm39) |
V108M |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,516,916 (GRCm39) |
|
probably null |
Het |
Adam34 |
T |
A |
8: 44,103,864 (GRCm39) |
T594S |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,104,852 (GRCm39) |
N264K |
probably damaging |
Het |
Arsa |
G |
A |
15: 89,357,742 (GRCm39) |
T407I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,995,353 (GRCm39) |
S32P |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,279,245 (GRCm39) |
D1995E |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,825,404 (GRCm39) |
|
probably null |
Het |
Chst15 |
A |
T |
7: 131,864,579 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
A |
8: 113,542,128 (GRCm39) |
F754I |
probably benign |
Het |
Cpz |
C |
T |
5: 35,669,772 (GRCm39) |
E302K |
probably damaging |
Het |
Daw1 |
A |
T |
1: 83,186,987 (GRCm39) |
I371F |
possibly damaging |
Het |
Dennd1b |
C |
A |
1: 139,096,690 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
T |
G |
2: 5,937,293 (GRCm39) |
Q73P |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,847,878 (GRCm39) |
I525T |
probably benign |
Het |
Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
Ercc3 |
A |
G |
18: 32,379,663 (GRCm39) |
Y290C |
probably damaging |
Het |
Fh1 |
C |
T |
1: 175,437,344 (GRCm39) |
V252I |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,517 (GRCm39) |
|
probably benign |
Het |
Il1rn |
T |
C |
2: 24,238,611 (GRCm39) |
S82P |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,973,134 (GRCm39) |
V1567A |
possibly damaging |
Het |
Lamtor4 |
A |
G |
5: 138,254,054 (GRCm39) |
|
probably null |
Het |
Llgl1 |
A |
G |
11: 60,596,842 (GRCm39) |
N148D |
probably benign |
Het |
Lmo7 |
G |
T |
14: 102,139,738 (GRCm39) |
G774V |
probably damaging |
Het |
Luzp2 |
A |
T |
7: 54,914,050 (GRCm39) |
K293M |
possibly damaging |
Het |
Mknk1 |
T |
C |
4: 115,720,223 (GRCm39) |
V83A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,056,598 (GRCm39) |
V1181A |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Or1ad8 |
A |
G |
11: 50,898,502 (GRCm39) |
I234M |
probably benign |
Het |
Or2aj4 |
A |
T |
16: 19,385,187 (GRCm39) |
W149R |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,297,054 (GRCm39) |
I548T |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,656,499 (GRCm39) |
Y1676H |
probably damaging |
Het |
Phtf1 |
A |
T |
3: 103,901,198 (GRCm39) |
K416* |
probably null |
Het |
Pmp2 |
T |
C |
3: 10,247,570 (GRCm39) |
T40A |
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,024 (GRCm39) |
M541T |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
Rdh14 |
T |
C |
12: 10,441,162 (GRCm39) |
V108A |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,138,748 (GRCm39) |
H248Q |
probably damaging |
Het |
Rsph6a |
A |
C |
7: 18,808,001 (GRCm39) |
Y388S |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,746,609 (GRCm39) |
D1981G |
probably benign |
Het |
Sf3a3 |
A |
G |
4: 124,609,694 (GRCm39) |
K97E |
possibly damaging |
Het |
Shisa9 |
A |
G |
16: 12,085,620 (GRCm39) |
T394A |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,436,567 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
A |
G |
4: 150,728,734 (GRCm39) |
F23S |
probably benign |
Het |
Slc7a10 |
T |
A |
7: 34,899,723 (GRCm39) |
V435E |
probably benign |
Het |
Snx15 |
A |
G |
19: 6,178,096 (GRCm39) |
Y28H |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,280 (GRCm39) |
K834Q |
possibly damaging |
Het |
Tdpoz2 |
G |
T |
3: 93,559,230 (GRCm39) |
Y247* |
probably null |
Het |
Tfr2 |
C |
A |
5: 137,577,183 (GRCm39) |
H378Q |
probably benign |
Het |
Tigit |
T |
A |
16: 43,469,581 (GRCm39) |
H170L |
probably benign |
Het |
Tmem62 |
A |
T |
2: 120,817,107 (GRCm39) |
Q91L |
probably benign |
Het |
Tmtc1 |
G |
T |
6: 148,327,416 (GRCm39) |
C32* |
probably null |
Het |
Txndc12 |
G |
A |
4: 108,713,407 (GRCm39) |
V90I |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,546,063 (GRCm39) |
T645K |
probably benign |
Het |
Vmn2r96 |
C |
T |
17: 18,806,664 (GRCm39) |
T345I |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,342,959 (GRCm39) |
I1733M |
probably benign |
Het |
Zfp512b |
T |
C |
2: 181,230,208 (GRCm39) |
H516R |
probably damaging |
Het |
Zfp606 |
T |
C |
7: 12,227,615 (GRCm39) |
S521P |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,054 (GRCm39) |
V302E |
possibly 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 |
24,435,292 (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 |
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'- TACTCCTGCATCCAGTCAGTG -3'
(R):5'- TTACTGTCATGGGGAAACTGGG -3'
Sequencing Primer
(F):5'- CAGTCAGTGGGAGCTACAC -3'
(R):5'- GCGTCCTAGAACAGGCTCTAAG -3'
|
Posted On |
2014-08-01 |