Incidental Mutation 'R6761:Tedc1'
ID |
531711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tedc1
|
Ensembl Gene |
ENSMUSG00000037466 |
Gene Name |
tubulin epsilon and delta complex 1 |
Synonyms |
4930427A07Rik |
MMRRC Submission |
044877-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6761 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
113120041-113129668 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113125334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 252
(D252G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049271]
[ENSMUST00000196755]
[ENSMUST00000200522]
|
AlphaFold |
Q3UK37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049271
AA Change: D252G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000035351 Gene: ENSMUSG00000037466 AA Change: D252G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:DUF4509
|
41 |
221 |
4.8e-65 |
PFAM |
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
Pfam:DUF4510
|
258 |
418 |
3.1e-73 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196755
|
SMART Domains |
Protein: ENSMUSP00000143431 Gene: ENSMUSG00000037466
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:DUF4509
|
40 |
138 |
4.1e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200522
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
Validation Efficiency |
97% (34/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
Actr3b |
C |
T |
5: 26,030,137 (GRCm39) |
S67F |
probably damaging |
Het |
Ap3m1 |
T |
C |
14: 21,088,096 (GRCm39) |
M107V |
probably benign |
Het |
Ccdc27 |
C |
T |
4: 154,122,155 (GRCm39) |
G241D |
unknown |
Het |
Cit |
T |
G |
5: 116,046,734 (GRCm39) |
D382E |
probably damaging |
Het |
Clec3b |
G |
T |
9: 122,986,004 (GRCm39) |
G134V |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
Dst |
T |
C |
1: 34,253,631 (GRCm39) |
S4300P |
probably damaging |
Het |
Ebna1bp2 |
C |
T |
4: 118,480,558 (GRCm39) |
R134* |
probably null |
Het |
Efcab14 |
T |
C |
4: 115,596,024 (GRCm39) |
S57P |
probably damaging |
Het |
Exosc2 |
T |
C |
2: 31,560,875 (GRCm39) |
|
probably null |
Het |
Hfm1 |
T |
C |
5: 107,043,145 (GRCm39) |
T630A |
probably damaging |
Het |
Hkdc1 |
A |
T |
10: 62,244,477 (GRCm39) |
I203N |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,137,996 (GRCm39) |
|
probably null |
Het |
Igkv3-2 |
G |
T |
6: 70,675,501 (GRCm39) |
|
probably benign |
Het |
Mslnl |
A |
G |
17: 25,965,047 (GRCm39) |
D471G |
probably damaging |
Het |
Msmo1 |
A |
G |
8: 65,172,061 (GRCm39) |
Y281H |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,656,620 (GRCm39) |
T584A |
probably benign |
Het |
Olfr908 |
A |
G |
9: 38,427,561 (GRCm39) |
T78A |
probably damaging |
Het |
Or52a24 |
C |
T |
7: 103,381,691 (GRCm39) |
A186V |
probably damaging |
Het |
Otoa |
G |
A |
7: 120,721,173 (GRCm39) |
G396D |
probably damaging |
Het |
Prss45 |
G |
T |
9: 110,669,487 (GRCm39) |
A197S |
probably damaging |
Het |
Prxl2a |
T |
A |
14: 40,716,578 (GRCm39) |
H198L |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,104 (GRCm39) |
I314N |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,620,286 (GRCm39) |
M458T |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,945,714 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
T |
C |
8: 46,225,651 (GRCm39) |
S254P |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,144 (GRCm39) |
|
probably null |
Het |
Uty |
T |
C |
Y: 1,186,790 (GRCm39) |
H145R |
probably damaging |
Homo |
Vmn1r9 |
A |
G |
6: 57,048,291 (GRCm39) |
Y122C |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,817,908 (GRCm39) |
N1491Y |
possibly damaging |
Het |
Wdr37 |
T |
C |
13: 8,899,684 (GRCm39) |
T140A |
probably benign |
Het |
|
Other mutations in Tedc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01066:Tedc1
|
APN |
12 |
113,126,770 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01074:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01075:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01077:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01084:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01103:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01108:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01137:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01142:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01149:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01150:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL01151:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
IGL02646:Tedc1
|
APN |
12 |
113,120,921 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02989:Tedc1
|
APN |
12 |
113,126,941 (GRCm39) |
missense |
probably benign |
0.09 |
ANU05:Tedc1
|
UTSW |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
ANU22:Tedc1
|
UTSW |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
R1309:Tedc1
|
UTSW |
12 |
113,125,400 (GRCm39) |
missense |
probably benign |
|
R1555:Tedc1
|
UTSW |
12 |
113,120,117 (GRCm39) |
unclassified |
probably benign |
|
R2092:Tedc1
|
UTSW |
12 |
113,121,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R3053:Tedc1
|
UTSW |
12 |
113,120,087 (GRCm39) |
unclassified |
probably benign |
|
R4130:Tedc1
|
UTSW |
12 |
113,126,828 (GRCm39) |
missense |
probably benign |
0.01 |
R5050:Tedc1
|
UTSW |
12 |
113,120,325 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5386:Tedc1
|
UTSW |
12 |
113,120,302 (GRCm39) |
missense |
probably benign |
0.03 |
R6377:Tedc1
|
UTSW |
12 |
113,124,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R6749:Tedc1
|
UTSW |
12 |
113,121,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R8220:Tedc1
|
UTSW |
12 |
113,120,375 (GRCm39) |
critical splice donor site |
probably null |
|
R9240:Tedc1
|
UTSW |
12 |
113,121,310 (GRCm39) |
missense |
probably benign |
0.43 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGACTCTAAGGGGTGCTCTG -3'
(R):5'- GAATAGCCAGTCCAGACAGG -3'
Sequencing Primer
(F):5'- CTCTAAGGGGTGCTCTGCTCAG -3'
(R):5'- AGATGCCTAGCTTACCCGG -3'
|
Posted On |
2018-08-29 |