Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Tbce'

372444

Institutional Source

Beutler Lab

Gene Symbol

Tbce

Ensembl Gene

ENSMUSG00000039233

Gene Name

tubulin-specific chaperone E

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13997949-14039638 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14019795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 93 (D93V)

Ref Sequence

ENSEMBL: ENSMUSP00000125613 (fasta)

Gene Model

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

AlphaFold

Q8CIV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039894
AA Change: D93V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: D93V

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

unknown
Transcript: ENSMUST00000159893
AA Change: M65L

SMART Domains

Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
AA Change: M65L

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: ENSMUST00000160776

Predicted Effect

probably damaging
Transcript: ENSMUST00000162326
AA Change: D93V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: D93V

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

0.1864

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469		probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,990,514	T91A	probably benign	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	Het

Other mutations in Tbce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Tbce	APN	13	14009740	splice site	probably benign
IGL01405:Tbce	APN	13	14003695	missense	probably damaging	1.00
IGL03142:Tbce	APN	13	14019864	missense	possibly damaging	0.90
R0362:Tbce	UTSW	13	13998162	missense	probably benign	0.12
R1736:Tbce	UTSW	13	14009642	missense	possibly damaging	0.64
R1845:Tbce	UTSW	13	14019709	missense	probably benign	0.22
R4445:Tbce	UTSW	13	13998395	missense	possibly damaging	0.82
R4803:Tbce	UTSW	13	14019861	missense	probably damaging	1.00
R4860:Tbce	UTSW	13	14019795	missense	probably damaging	0.97
R4862:Tbce	UTSW	13	13998419	missense	possibly damaging	0.94
R5096:Tbce	UTSW	13	14029405	splice site	probably benign
R5391:Tbce	UTSW	13	14005965	missense	probably damaging	0.99
R6050:Tbce	UTSW	13	13998434	missense	possibly damaging	0.82
R6179:Tbce	UTSW	13	14019777	missense	probably benign
R6645:Tbce	UTSW	13	14005229	missense	probably benign	0.04
R7062:Tbce	UTSW	13	14019795	missense	possibly damaging	0.89
R7222:Tbce	UTSW	13	13998150	missense	probably damaging	1.00
R7572:Tbce	UTSW	13	14010587	missense	probably benign
R7587:Tbce	UTSW	13	14019742	missense	probably damaging	1.00
R7726:Tbce	UTSW	13	14029290	missense	probably damaging	1.00
R7747:Tbce	UTSW	13	14006478	missense	possibly damaging	0.93
R8846:Tbce	UTSW	13	14019700	critical splice donor site	probably null
R9185:Tbce	UTSW	13	13998442	missense	probably damaging	1.00
R9299:Tbce	UTSW	13	14019813	missense	probably benign	0.00
R9337:Tbce	UTSW	13	14019813	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

2016-03-01