Incidental Mutation 'R1736:Tbce'
| ID |
199737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbce
|
| Ensembl Gene |
ENSMUSG00000039233 |
| Gene Name |
tubulin-specific chaperone E |
| Synonyms |
2610206D02Rik, C530005D02Rik |
| MMRRC Submission |
039768-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1736 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14172534-14214223 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14184227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 217
(I217T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039894]
[ENSMUST00000159893]
[ENSMUST00000162326]
|
| AlphaFold |
Q8CIV8 |
| PDB Structure |
Solution structure of the C-terminal ubiquitin-like domain of mouse tubulin-specific chaperone e [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039894
AA Change: I217T
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: I217T
| 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 |
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: ENSMUST00000159966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160553
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162326
AA Change: I217T
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: I217T
| 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
|
| Meta Mutation Damage Score |
0.6248 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
| Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
| Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,145 (GRCm39) |
N648K |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,852 (GRCm39) |
G466S |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
| Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
| Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
| Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
| Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
| Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
| Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
| Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,378,294 (GRCm39) |
|
probably benign |
Het |
| Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
| Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
| Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,540,464 (GRCm39) |
I986V |
probably benign |
Het |
| Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
| Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
| Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
| Tulp4 |
T |
G |
17: 6,283,490 (GRCm39) |
V1173G |
possibly damaging |
Het |
| Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
probably benign |
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 |
|
|
IGL01405:Tbce
|
APN |
13 |
14,178,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGTGTTCAAGACTCCCAAGCAG -3'
(R):5'- GGAAACCTTAAGCGTCACCTACCTC -3'
Sequencing Primer
(F):5'- GACTCCCAAGCAGTACAGATGAG -3'
(R):5'- GCGTCACCTACCTCCATGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation