Mutagenetix > Incidental Mutation

Incidental Mutation 'R7572:Tbce'

586097

Institutional Source

Beutler Lab

Gene Symbol

Tbce

Ensembl Gene

ENSMUSG00000039233

Gene Name

tubulin-specific chaperone E

Synonyms

2610206D02Rik, C530005D02Rik

MMRRC Submission

045658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7572 (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 14185172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

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 benign
Transcript: ENSMUST00000039894
AA Change: V172A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: V172A

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: 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

probably benign
Transcript: ENSMUST00000162326
AA Change: V172A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: V172A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (56/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,380,128 (GRCm39)	T57S	possibly damaging	Het
Adamts1	A	G	16: 85,594,629 (GRCm39)	Y670H	possibly damaging	Het
Akr1b7	A	T	6: 34,396,343 (GRCm39)	I185F	probably damaging	Het
Ankfn1	T	C	11: 89,312,097 (GRCm39)	N683D	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Chrna5	T	A	9: 54,913,749 (GRCm39)	W432R	probably damaging	Het
Chrng	T	A	1: 87,136,836 (GRCm39)	L235Q	probably damaging	Het
Ciao1	A	T	2: 127,088,631 (GRCm39)	C97*	probably null	Het
Cpt2	G	T	4: 107,764,745 (GRCm39)	H340N	probably damaging	Het
Dmtn	A	T	14: 70,842,777 (GRCm39)	M328K	possibly damaging	Het
Dusp10	T	A	1: 183,806,506 (GRCm39)	V413E	probably damaging	Het
Epha3	A	T	16: 63,431,443 (GRCm39)	L487*	probably null	Het
Esco2	A	G	14: 66,068,641 (GRCm39)	V223A	probably damaging	Het
Fryl	A	T	5: 73,245,739 (GRCm39)	D1139E	possibly damaging	Het
Gemin4	A	G	11: 76,104,408 (GRCm39)	S118P	probably damaging	Het
Gm3604	A	G	13: 62,518,060 (GRCm39)	I79T	probably damaging	Het
Gpatch3	T	C	4: 133,302,117 (GRCm39)	V16A	probably benign	Het
Hcn4	A	G	9: 58,731,063 (GRCm39)	N90S	unknown	Het
Hr	C	T	14: 70,799,293 (GRCm39)	H593Y	possibly damaging	Het
Igkv4-50	A	G	6: 69,677,951 (GRCm39)	V51A	probably damaging	Het
Insr	C	A	8: 3,223,602 (GRCm39)	V844F	probably benign	Het
Iqcn	T	C	8: 71,162,075 (GRCm39)	S423P	probably benign	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Map4k1	A	G	7: 28,686,563 (GRCm39)	I162V	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurog2	A	G	3: 127,427,550 (GRCm39)	E58G	probably damaging	Het
Or4x6	T	C	2: 89,949,087 (GRCm39)	Y285C	probably damaging	Het
Or5h25	T	A	16: 58,930,793 (GRCm39)	Y60F	probably damaging	Het
Or7e174	T	G	9: 20,012,154 (GRCm39)	L33W	probably damaging	Het
Orc4	A	T	2: 48,800,248 (GRCm39)	M300K	probably benign	Het
Plch1	T	C	3: 63,648,105 (GRCm39)	D422G	possibly damaging	Het
Prox1	T	C	1: 189,855,583 (GRCm39)	E683G	probably benign	Het
Pxdn	A	G	12: 30,056,704 (GRCm39)	D1305G	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rex2	T	G	4: 147,142,329 (GRCm39)	I272M	probably damaging	Het
Rpa2	T	C	4: 132,496,014 (GRCm39)	S12P	possibly damaging	Het
Samd15	C	A	12: 87,248,350 (GRCm39)	P345Q	probably damaging	Het
Sema5a	T	A	15: 32,673,574 (GRCm39)	I804N	probably damaging	Het
Sgsm3	G	A	15: 80,891,667 (GRCm39)	R165H	possibly damaging	Het
Slc22a30	T	G	19: 8,313,072 (GRCm39)	M467L	unknown	Het
Slc2a5	T	C	4: 150,226,642 (GRCm39)	I368T	probably benign	Het
Slc8a1	A	T	17: 81,749,200 (GRCm39)		probably null	Het
Snap91	T	C	9: 86,688,547 (GRCm39)	T331A	possibly damaging	Het
Soat2	G	T	15: 102,062,456 (GRCm39)		probably null	Het
Sptbn4	C	A	7: 27,071,697 (GRCm39)	R1589L	probably damaging	Het
Stk38l	A	G	6: 146,677,152 (GRCm39)	Y443C	probably damaging	Het
Sult5a1	T	C	8: 123,872,117 (GRCm39)	I242V	probably benign	Het
Susd3	T	C	13: 49,384,638 (GRCm39)	R262G	probably benign	Het
Syt9	A	G	7: 107,035,784 (GRCm39)	D267G	probably damaging	Het
Tcstv3	A	T	13: 120,779,107 (GRCm39)	D2V	possibly damaging	Het
Tmod1	T	A	4: 46,083,593 (GRCm39)	S7R	possibly damaging	Het
Ubqln4	C	T	3: 88,462,731 (GRCm39)		probably benign	Het
Ucp2	T	C	7: 100,146,514 (GRCm39)		probably null	Het
Usp30	G	A	5: 114,258,308 (GRCm39)	S306N	probably benign	Het
Usp5	A	T	6: 124,794,970 (GRCm39)	I660N	probably damaging	Het
Vmn1r43	A	G	6: 89,846,547 (GRCm39)	V313A	possibly damaging	Het
Wdr49	T	C	3: 75,265,744 (GRCm39)	H234R	possibly damaging	Het
Wdr70	T	C	15: 8,065,327 (GRCm39)	D245G	possibly damaging	Het
Zc3h6	A	G	2: 128,859,172 (GRCm39)	K1068E	probably benign	Het
Zfp141	T	C	7: 42,124,856 (GRCm39)	K539E	probably benign	Het
Zfp758	T	A	17: 22,593,872 (GRCm39)	H119Q	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
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'- ATTCGTGCACCTCAAGGGAC -3'
(R):5'- TTCTTGTCAGACAGCCCTGC -3'

Sequencing Primer
(F):5'- GGGACCAACTGAAGACTGCC -3'
(R):5'- ATTCTACGTCTTTGGTGAG -3'

Posted On

2019-10-24