Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Tbcb'

659201

Institutional Source

Beutler Lab

Gene Symbol

Tbcb

Ensembl Gene

ENSMUSG00000006095

Gene Name

tubulin folding cofactor B

Synonyms

2410007D12Rik, Ckap1

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29923554-29931622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29926421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 132 (P132L)

Ref Sequence

ENSEMBL: ENSMUSP00000006254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882]

AlphaFold

Q9D1E6

PDB Structure

Solution Structure of a N-terminal Ubiquitin-like Domain in Mouse Tubulin-specific Chaperone B [SOLUTION NMR]
Solution structure of the CAP-Gly domain in mouse tubulin specific chaperone B [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000006254
AA Change: P132L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095
AA Change: P132L

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	10	94	9.6e-30	PFAM
low complexity region	135	152	N/A	INTRINSIC
CAP_GLY	161	230	4.76e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019882

SMART Domains

Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	15	68	1.22e-24	SMART
ZnF_C2C2	84	125	2.18e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,229,328 (GRCm39)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,784,493 (GRCm39)	S1154T	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm39)	S2434T	possibly damaging	Het
Crybg2	T	C	4: 133,808,514 (GRCm39)	S1372P	probably damaging	Het
Dock5	A	G	14: 68,031,425 (GRCm39)	Y1002H	probably benign	Het
Dst	T	C	1: 34,225,082 (GRCm39)	S1163P	probably damaging	Het
Fah	A	T	7: 84,250,305 (GRCm39)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,296,466 (GRCm39)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm39)	L37F	probably damaging	Het
Gm10750	A	G	2: 148,857,888 (GRCm39)	V121A	unknown	Het
Klhl25	G	A	7: 75,515,843 (GRCm39)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,730,812 (GRCm39)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,571,662 (GRCm39)	D353V	probably damaging	Het
Myh8	G	A	11: 67,169,741 (GRCm39)	R20Q	probably damaging	Het
Or4c127	G	A	2: 89,833,511 (GRCm39)	V254M	probably benign	Het
Or6c200-ps1	T	C	10: 128,869,892 (GRCm39)	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pkn3	A	T	2: 29,969,936 (GRCm39)		probably null	Het
Ptpn21	T	A	12: 98,646,285 (GRCm39)	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,779,433 (GRCm39)		probably null	Het
Sardh	T	A	2: 27,129,657 (GRCm39)	I263F	probably damaging	Het
Scart1	G	A	7: 139,804,634 (GRCm39)	V546M	probably benign	Het
Sh3bp5	A	G	14: 31,139,375 (GRCm39)	V66A	probably benign	Het
Styxl2	T	C	1: 165,928,730 (GRCm39)	D294G	probably benign	Het
Taf4b	T	A	18: 14,955,195 (GRCm39)	S583T	probably damaging	Het
Tcirg1	A	G	19: 3,946,324 (GRCm39)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,220,985 (GRCm39)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,417 (GRCm39)	E368G	probably benign	Het
Trdv2-1	T	A	14: 54,183,972 (GRCm39)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,447,653 (GRCm39)	T1849I	probably benign	Het
Vav2	G	A	2: 27,161,841 (GRCm39)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm39)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 15,123,799 (GRCm39)	T558I	possibly damaging	Het
Yeats2	C	T	16: 19,977,926 (GRCm39)	R137W	probably damaging	Het

Other mutations in Tbcb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Tbcb	APN	7	29,930,627 (GRCm39)	splice site	probably null
IGL02891:Tbcb	APN	7	29,932,859 (GRCm39)	unclassified	probably benign
IGL03123:Tbcb	APN	7	29,926,261 (GRCm39)	splice site	probably benign
R1778:Tbcb	UTSW	7	29,931,037 (GRCm39)	missense	probably benign	0.07
R1845:Tbcb	UTSW	7	29,923,924 (GRCm39)	missense	possibly damaging	0.94
R4360:Tbcb	UTSW	7	29,926,460 (GRCm39)	missense	probably benign	0.01
R4579:Tbcb	UTSW	7	29,931,019 (GRCm39)	missense	possibly damaging	0.78
R8471:Tbcb	UTSW	7	29,931,100 (GRCm39)	missense	probably benign	0.00
R9562:Tbcb	UTSW	7	29,930,549 (GRCm39)	critical splice donor site	probably null
R9565:Tbcb	UTSW	7	29,930,549 (GRCm39)	critical splice donor site	probably null
RF021:Tbcb	UTSW	7	29,923,771 (GRCm39)	missense	probably damaging	1.00
X0025:Tbcb	UTSW	7	29,926,442 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTATCAAGTTTCCAGTCACAGTG -3'
(R):5'- GGTGGCATCCCTATAGTTCTG -3'

Sequencing Primer
(F):5'- GTCACAGTGACAAAAAGACACGTAC -3'
(R):5'- CCCTATAGTTCTGAATTGCTAGGAG -3'

Posted On

2021-01-18