Incidental Mutation 'IGL01405:Tbce'
| ID |
79773 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbce
|
| Ensembl Gene |
ENSMUSG00000039233 |
| Gene Name |
tubulin-specific chaperone E |
| Synonyms |
2610206D02Rik, C530005D02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
14172534-14214223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14178280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 370
(I370N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039894]
[ENSMUST00000099747]
[ENSMUST00000159893]
[ENSMUST00000162326]
[ENSMUST00000221300]
[ENSMUST00000221974]
|
| AlphaFold |
Q8CIV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039894
AA Change: I370N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: I370N
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
|
SCOP:d1fqva2
|
117 |
345 |
4e-20 |
SMART |
|
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
Pfam:Ubiquitin_2
|
442 |
523 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099747
|
| SMART Domains |
Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
300 |
460 |
2.9e-26 |
PFAM |
|
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159893
|
| SMART Domains |
Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lpla_
|
9 |
35 |
3e-5 |
SMART |
|
Blast:CAP_GLY
|
10 |
34 |
2e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160553
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162326
AA Change: I370N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: I370N
| Domain | Start | End | E-Value | Type |
|---|
|
CAP_GLY
|
10 |
76 |
5.23e-32 |
SMART |
|
SCOP:d1fqva2
|
117 |
345 |
4e-21 |
SMART |
|
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221974
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222420
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a tubulin binding cofactor that participates in microtubule dynamics. A mouse model of progressive motor neuropathy (pmn) was discovered to harbor a single amino acid deletion in this gene. Mice that are homozygous for pmn allele exhibit progressive atrophy and premature death due to respiratory failure. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
Het |
|
| Other mutations in Tbce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01291:Tbce
|
APN |
13 |
14,184,325 (GRCm39) |
splice site |
probably benign |
|
|
IGL03142:Tbce
|
APN |
13 |
14,194,449 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0362:Tbce
|
UTSW |
13 |
14,172,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1736:Tbce
|
UTSW |
13 |
14,184,227 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1845:Tbce
|
UTSW |
13 |
14,194,294 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4445:Tbce
|
UTSW |
13 |
14,172,980 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4803:Tbce
|
UTSW |
13 |
14,194,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Tbce
|
UTSW |
13 |
14,194,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4860:Tbce
|
UTSW |
13 |
14,194,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4862:Tbce
|
UTSW |
13 |
14,173,004 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5096:Tbce
|
UTSW |
13 |
14,203,990 (GRCm39) |
splice site |
probably benign |
|
|
R5391:Tbce
|
UTSW |
13 |
14,180,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6050:Tbce
|
UTSW |
13 |
14,173,019 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6179:Tbce
|
UTSW |
13 |
14,194,362 (GRCm39) |
missense |
probably benign |
|
|
R6645:Tbce
|
UTSW |
13 |
14,179,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7062:Tbce
|
UTSW |
13 |
14,194,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7222:Tbce
|
UTSW |
13 |
14,172,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Tbce
|
UTSW |
13 |
14,185,172 (GRCm39) |
missense |
probably benign |
|
|
R7587:Tbce
|
UTSW |
13 |
14,194,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Tbce
|
UTSW |
13 |
14,203,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Tbce
|
UTSW |
13 |
14,181,063 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8846:Tbce
|
UTSW |
13 |
14,194,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9185:Tbce
|
UTSW |
13 |
14,173,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Tbce
|
UTSW |
13 |
14,194,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9337:Tbce
|
UTSW |
13 |
14,194,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation