Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Tbce'

548359

Institutional Source

Beutler Lab

Gene Symbol

Tbce

Ensembl Gene

ENSMUSG00000039233

Gene Name

tubulin-specific chaperone E

Synonyms

2610206D02Rik, C530005D02Rik

MMRRC Submission

045158-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14172534-14214223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14194380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

Ref Sequence

ENSEMBL: ENSMUSP00000125613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000159893] [ENSMUST00000162326]

AlphaFold

Q8CIV8

Predicted Effect

probably benign
Transcript: ENSMUST00000039894
AA Change: D93G

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: D93G

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: M65V

SMART Domains

Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
AA Change: M65V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162326
AA Change: D93G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: D93G

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,544,872 (GRCm39)	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,159,682 (GRCm39)	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,366,091 (GRCm39)	H536R	probably benign	Het
Adgrb3	T	C	1: 25,865,166 (GRCm39)	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,469,473 (GRCm39)	M235L	probably benign	Het
Arhgap44	T	C	11: 64,902,758 (GRCm39)	T570A	probably benign	Het
Astn1	A	G	1: 158,516,081 (GRCm39)		probably null	Het
Camsap3	A	G	8: 3,657,834 (GRCm39)		probably benign	Het
Ccdc73	C	T	2: 104,782,223 (GRCm39)	A193V	probably damaging	Het
Ccl20	G	A	1: 83,095,535 (GRCm39)	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,711,268 (GRCm39)	E16G	probably damaging	Het
Celsr2	T	A	3: 108,309,826 (GRCm39)	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,456,785 (GRCm39)	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,676 (GRCm39)	A106V	probably benign	Het
Ctdspl	G	A	9: 118,866,538 (GRCm39)	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,151,659 (GRCm39)	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,983,990 (GRCm39)		probably null	Het
Dnajc16	A	G	4: 141,494,001 (GRCm39)	F549L	probably damaging	Het
Dnm3	T	A	1: 161,962,060 (GRCm39)	K50*	probably null	Het
Eci1	C	T	17: 24,645,714 (GRCm39)		probably benign	Het
Eif2b4	C	T	5: 31,350,175 (GRCm39)	C49Y	probably benign	Het
Emc3	A	T	6: 113,499,757 (GRCm39)	I56N	probably damaging	Het
Enthd1	A	G	15: 80,336,745 (GRCm39)	L563P	probably damaging	Het
Ercc4	T	A	16: 12,950,811 (GRCm39)	I635K	probably damaging	Het
Espl1	A	C	15: 102,207,331 (GRCm39)	N265T	probably benign	Het
Fads2	T	C	19: 10,042,962 (GRCm39)		probably null	Het
Fam186a	G	A	15: 99,831,521 (GRCm39)		probably benign	Het
Fastkd1	A	T	2: 69,534,666 (GRCm39)	I368K	possibly damaging	Het
Fat1	G	A	8: 45,403,253 (GRCm39)	M1I	probably null	Het
Foxj1	T	C	11: 116,222,819 (GRCm39)	E328G	probably benign	Het
Gfod2	T	C	8: 106,449,508 (GRCm39)		probably benign	Het
Gm6525	C	T	3: 84,082,198 (GRCm39)	R40C	probably benign	Het
Gna12	G	A	5: 140,771,240 (GRCm39)	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,104,712 (GRCm39)	M11V	probably benign	Het
Kcnj14	T	C	7: 45,467,314 (GRCm39)	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,323,737 (GRCm39)	S496T	probably benign	Het
Ltn1	T	C	16: 87,224,491 (GRCm39)	T78A	probably damaging	Het
Matr3	T	A	18: 35,712,072 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,298,125 (GRCm39)	M142T	probably benign	Het
Mroh7	A	G	4: 106,541,177 (GRCm39)	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,361,650 (GRCm39)	L12F	probably benign	Het
Myo3b	G	A	2: 70,047,501 (GRCm39)	V308I	probably benign	Het
Nfasc	A	G	1: 132,529,707 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,167,807 (GRCm39)	M995L	probably benign	Het
Nvl	A	G	1: 180,939,899 (GRCm39)	I617T	probably benign	Het
Oas1h	C	A	5: 120,999,528 (GRCm39)		probably benign	Het
Oasl2	T	A	5: 115,049,152 (GRCm39)	Y197*	probably null	Het
Or4k1	A	G	14: 50,377,907 (GRCm39)	L63P	probably damaging	Het
Or52ab7	T	C	7: 102,978,293 (GRCm39)	V200A	probably benign	Het
Or5an1c	T	C	19: 12,218,089 (GRCm39)	N312S	probably benign	Het
Or5l13	T	C	2: 87,780,568 (GRCm39)	E3G	probably benign	Het
Or5p70	C	T	7: 107,995,037 (GRCm39)	R237*	probably null	Het
Or8g35	A	T	9: 39,381,353 (GRCm39)	I223N	probably benign	Het
Orc6	T	C	8: 86,029,537 (GRCm39)	V27A	probably damaging	Het
Parp4	A	T	14: 56,852,216 (GRCm39)	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,958,130 (GRCm39)	S826R	probably damaging	Het
Phldb1	T	C	9: 44,607,432 (GRCm39)	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,106,210 (GRCm39)	S21G	probably benign	Het
Ppp1r18	C	A	17: 36,179,103 (GRCm39)	T326K	probably damaging	Het
Psg26	A	G	7: 18,216,521 (GRCm39)	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,054,220 (GRCm39)	D265E	probably benign	Het
Rasgrp4	T	C	7: 28,849,619 (GRCm39)	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,703,111 (GRCm39)	V621L	probably benign	Het
Sart3	T	C	5: 113,883,663 (GRCm39)	K783R	possibly damaging	Het
Slc23a2	T	A	2: 131,933,189 (GRCm39)	I90F	probably damaging	Het
Slc5a2	A	T	7: 127,869,212 (GRCm39)	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,600,029 (GRCm39)	G128A	probably damaging	Het
Smcr8	A	T	11: 60,671,180 (GRCm39)	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,458,835 (GRCm39)	D519E	probably damaging	Het
Smurf1	A	T	5: 144,830,356 (GRCm39)		probably null	Het
Spata18	T	A	5: 73,816,636 (GRCm39)	N125K	probably benign	Het
Spice1	T	A	16: 44,178,259 (GRCm39)	M94K	probably damaging	Het
Stard4	T	C	18: 33,338,587 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,140,442 (GRCm39)	D49G	probably benign	Het
Tbx21	T	A	11: 96,989,719 (GRCm39)	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,044,731 (GRCm39)		probably benign	Het
Tmem209	C	T	6: 30,502,016 (GRCm39)	R62H	probably damaging	Het
Tmem237	A	T	1: 59,158,771 (GRCm39)		probably null	Het
Tmprss9	T	C	10: 80,730,883 (GRCm39)	I803T	probably benign	Het
Trip4	C	T	9: 65,792,292 (GRCm39)	A7T	probably benign	Het
Unc13a	T	C	8: 72,115,881 (GRCm39)	D107G	probably benign	Het
Uso1	C	A	5: 92,340,599 (GRCm39)	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,196,949 (GRCm39)	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,419,040 (GRCm39)	C367R	probably damaging	Het
Znrf3	T	A	11: 5,231,550 (GRCm39)	E558D	probably 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
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'- TTCTCCACATTTTAAGCCACTAAGG -3'
(R):5'- AGAGCCTTGTCAGGTCTGAAG -3'

Sequencing Primer
(F):5'- TTTTAAGCCACTAAGGAAAGAAGGTG -3'
(R):5'- CTTGTCAGGTCTGAAGCCTGC -3'

Posted On

2019-05-13