Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Tbce'

595512

Institutional Source

Beutler Lab

Gene Symbol

Tbce

Ensembl Gene

ENSMUSG00000039233

Gene Name

tubulin-specific chaperone E

Synonyms

2610206D02Rik, C530005D02Rik

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14172534-14214223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14203875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 29 (V29A)

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

probably damaging
Transcript: ENSMUST00000039894
AA Change: V29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: V29A

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

unknown
Transcript: ENSMUST00000159893
AA Change: V29A

SMART Domains

Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
AA Change: V29A

Domain	Start	End	E-Value	Type
SCOP:d1lpla_	9	35	3e-5	SMART
Blast:CAP_GLY	10	34	2e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000162326
AA Change: V29A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: V29A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 44,104,208 (GRCm39)	N479T	probably damaging	Het
Add3	C	G	19: 53,227,892 (GRCm39)	L526V	probably damaging	Het
Alas1	T	C	9: 106,124,150 (GRCm39)	T3A	probably benign	Het
Arap3	C	T	18: 38,122,520 (GRCm39)	D579N	probably damaging	Het
Armc6	C	A	8: 70,675,248 (GRCm39)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 87,251,813 (GRCm39)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,690,504 (GRCm39)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,639,559 (GRCm39)	D112E	probably benign	Het
Brf1	T	G	12: 112,927,865 (GRCm39)	K438T	probably benign	Het
Cabs1	A	T	5: 88,128,145 (GRCm39)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,429,071 (GRCm39)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,339,230 (GRCm39)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,213,510 (GRCm39)	*120W	probably null	Het
Col17a1	C	A	19: 47,643,629 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,385,621 (GRCm39)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,290,690 (GRCm39)	S337*	probably null	Het
Cx3cl1	T	C	8: 95,506,867 (GRCm39)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,396,389 (GRCm39)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,650,219 (GRCm39)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,620,722 (GRCm39)	*494W	probably null	Het
Exph5	G	A	9: 53,284,475 (GRCm39)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam222b	A	G	11: 78,044,577 (GRCm39)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,420,086 (GRCm39)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,373,656 (GRCm39)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,860,310 (GRCm39)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,116 (GRCm39)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,808,644 (GRCm39)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,407,204 (GRCm39)	N342S	probably benign	Het
Kcnh6	T	C	11: 105,908,401 (GRCm39)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,627,840 (GRCm39)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,519,751 (GRCm39)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm39)	Y306*	probably null	Het
Manba	C	T	3: 135,223,770 (GRCm39)	T219M	probably benign	Het
Mastl	T	C	2: 23,030,807 (GRCm39)		probably null	Het
Med15	T	G	16: 17,473,038 (GRCm39)	M550L	possibly damaging	Het
Men1	G	A	19: 6,387,312 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,571,957 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,822 (GRCm39)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,530,753 (GRCm39)	C229R	probably benign	Het
Ntn4	A	G	10: 93,569,544 (GRCm39)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,151,623 (GRCm39)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,321,727 (GRCm39)	C141*	probably null	Het
Or6b2b	A	T	1: 92,419,029 (GRCm39)	F149L	probably benign	Het
Pakap	C	T	4: 57,709,876 (GRCm39)	P274S	probably damaging	Het
Papss2	A	T	19: 32,611,403 (GRCm39)		probably null	Het
Pcdhgc3	T	C	18: 37,939,932 (GRCm39)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 126,577,069 (GRCm39)	V988I	probably benign	Het
Pom121	C	T	5: 135,407,002 (GRCm39)	G1178S	probably damaging	Het
Prss33	A	G	17: 24,053,203 (GRCm39)	C213R	probably damaging	Het
Scap	G	A	9: 110,207,435 (GRCm39)		probably null	Het
Shfl	T	C	9: 20,784,461 (GRCm39)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,902,550 (GRCm39)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,317,214 (GRCm39)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,723,579 (GRCm39)	A534S	probably benign	Het
Spink5	T	C	18: 44,096,419 (GRCm39)	L16P	probably damaging	Het
Sting1	C	T	18: 35,868,318 (GRCm39)	A261T	probably damaging	Het
Stk4	T	G	2: 163,952,146 (GRCm39)	M1R	probably null	Het
Stub1	A	T	17: 26,050,106 (GRCm39)	Y253*	probably null	Het
Tasor	C	A	14: 27,169,454 (GRCm39)	N338K	probably damaging	Het
Tchhl1	A	G	3: 93,379,065 (GRCm39)	R590G	probably benign	Het
Ubr4	C	T	4: 139,186,231 (GRCm39)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,182,939 (GRCm39)	C253*	probably null	Het
Wfdc8	C	A	2: 164,441,906 (GRCm39)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,621,975 (GRCm39)	D441G	probably benign	Het
Zscan4d	G	T	7: 10,899,169 (GRCm39)	P36Q	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
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
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
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'- ATGTGTCTGCAAGTTGGCTG -3'
(R):5'- TCATTGTTCTTTAGTATGTGTGTACAC -3'

Sequencing Primer
(F):5'- CTTTATTGGAGACCGTGCCGC -3'
(R):5'- ACATGGAACTCACCTGTTGG -3'

Posted On

2019-11-12