Incidental Mutation 'R3053:Tedc1'
| ID |
265045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tedc1
|
| Ensembl Gene |
ENSMUSG00000037466 |
| Gene Name |
tubulin epsilon and delta complex 1 |
| Synonyms |
4930427A07Rik |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113120041-113129668 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 113120087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006523]
[ENSMUST00000049271]
[ENSMUST00000196755]
[ENSMUST00000200553]
[ENSMUST00000200522]
[ENSMUST00000199089]
|
| AlphaFold |
Q3UK37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006523
|
| SMART Domains |
Protein: ENSMUSP00000006523
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
55 |
2e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000049271
AA Change: A11S
|
| SMART Domains |
Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: A11S
| 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 |
noncoding transcript
Transcript: ENSMUST00000196505
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196755
AA Change: A10S
|
| SMART Domains |
Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466
AA Change: A10S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF4509
|
40 |
138 |
4.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200553
|
| SMART Domains |
Protein: ENSMUSP00000143680
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
55 |
2e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199089
|
| SMART Domains |
Protein: ENSMUSP00000142803
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
54 |
106 |
9.5e-17 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
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 |
|
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 |
|
R6761:Tedc1
|
UTSW |
12 |
113,125,334 (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'- CGGTTGATAAGTCGAGGTGC -3'
(R):5'- TGTCACCTACATCAGCCCAG -3'
Sequencing Primer
(F):5'- TTGGTGAGTTCCAACGGAG -3'
(R):5'- TACATCAGCCCAGGCAACG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation