Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02620:Tbcd'

300836

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbcd

Ensembl Gene

ENSMUSG00000039230

Gene Name

tubulin-specific chaperone d

Synonyms

2310057L06Rik, A030005L14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL02620

Quality Score

Status

Chromosome

Chromosomal Location

121342817-121507996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121352081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 146 (T146M)

Ref Sequence

ENSEMBL: ENSMUSP00000099302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103013]

AlphaFold

Q8BYA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103013
AA Change: T146M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: T146M

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	45	62	N/A	INTRINSIC
SCOP:d1b3ua_	357	742	4e-20	SMART
Pfam:TFCD_C	900	1090	1.4e-74	PFAM
low complexity region	1113	1120	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(23) : Gene trapped(23)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,231,943 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,090,094 (GRCm39)	V4174A	possibly damaging	Het
Ccdc150	T	A	1: 54,302,704 (GRCm39)	L108*	probably null	Het
Cdon	C	T	9: 35,364,095 (GRCm39)	T71I	probably benign	Het
Chdh	T	C	14: 29,753,096 (GRCm39)	W2R	probably damaging	Het
Ckap5	T	G	2: 91,436,714 (GRCm39)	L1605V	probably benign	Het
Cluh	C	T	11: 74,555,893 (GRCm39)	Q819*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cwc27	C	A	13: 104,938,714 (GRCm39)		probably benign	Het
Elk4	C	A	1: 131,946,109 (GRCm39)	A329D	probably benign	Het
Fbxo40	T	C	16: 36,786,442 (GRCm39)	H709R	probably benign	Het
Flna	A	G	X: 73,273,582 (GRCm39)		probably benign	Het
Grip2	G	T	6: 91,755,587 (GRCm39)	D592E	possibly damaging	Het
H2-T24	T	G	17: 36,328,183 (GRCm39)	N100T	probably damaging	Het
Hepacam2	C	A	6: 3,487,280 (GRCm39)		probably benign	Het
Ighv2-2	T	A	12: 113,551,912 (GRCm39)	T109S	possibly damaging	Het
Ipo11	T	C	13: 107,012,789 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,205,525 (GRCm39)	M540T	probably damaging	Het
Kifc3	A	G	8: 95,836,582 (GRCm39)	S82P	probably damaging	Het
Map4k5	T	C	12: 69,939,476 (GRCm39)	Y20C	probably benign	Het
Milr1	C	A	11: 106,645,744 (GRCm39)	S95R	probably damaging	Het
Mtnr1b	A	C	9: 15,785,617 (GRCm39)	V47G	possibly damaging	Het
Nme1nme2	G	T	11: 93,843,682 (GRCm39)	R173S	possibly damaging	Het
Or6a2	T	A	7: 106,600,825 (GRCm39)	K81*	probably null	Het
Phactr2	T	C	10: 13,167,632 (GRCm39)	R100G	probably damaging	Het
Potefam1	C	T	2: 111,041,970 (GRCm39)	V322I	probably benign	Het
Ppargc1b	A	G	18: 61,431,810 (GRCm39)	Y997H	probably damaging	Het
Pramel3a	A	G	X: 134,211,158 (GRCm39)	M397V	probably benign	Het
Ptprz1	A	G	6: 22,959,739 (GRCm39)	K79E	probably damaging	Het
Rabgef1	T	C	5: 130,219,863 (GRCm39)	S109P	probably damaging	Het
Raf1	A	T	6: 115,609,848 (GRCm39)		probably benign	Het
Rptor	T	C	11: 119,671,413 (GRCm39)	L292P	probably benign	Het
Slc25a45	A	G	19: 5,934,554 (GRCm39)	D174G	probably damaging	Het
Zfp458	T	A	13: 67,406,058 (GRCm39)	H127L	probably damaging	Het

Other mutations in Tbcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Tbcd	APN	11	121,466,147 (GRCm39)	missense	probably damaging	0.96
IGL00795:Tbcd	APN	11	121,507,758 (GRCm39)	missense	probably benign
IGL00802:Tbcd	APN	11	121,499,436 (GRCm39)	missense	possibly damaging	0.55
IGL01286:Tbcd	APN	11	121,384,719 (GRCm39)	critical splice donor site	probably null
IGL01325:Tbcd	APN	11	121,431,819 (GRCm39)	missense	probably damaging	0.99
IGL01348:Tbcd	APN	11	121,387,902 (GRCm39)	missense	probably benign
IGL01432:Tbcd	APN	11	121,366,506 (GRCm39)	splice site	probably benign
IGL01577:Tbcd	APN	11	121,387,838 (GRCm39)	missense	probably damaging	1.00
IGL01660:Tbcd	APN	11	121,496,153 (GRCm39)	missense	probably benign	0.01
IGL01865:Tbcd	APN	11	121,481,206 (GRCm39)	missense	possibly damaging	0.81
IGL02260:Tbcd	APN	11	121,494,104 (GRCm39)	missense	probably damaging	1.00
IGL02492:Tbcd	APN	11	121,387,960 (GRCm39)	missense	probably benign	0.06
IGL02950:Tbcd	APN	11	121,494,535 (GRCm39)	missense	probably damaging	0.99
R6859_Tbcd_818	UTSW	11	121,387,937 (GRCm39)	missense	possibly damaging	0.81
R0066:Tbcd	UTSW	11	121,394,590 (GRCm39)	nonsense	probably null
R0066:Tbcd	UTSW	11	121,394,590 (GRCm39)	nonsense	probably null
R0077:Tbcd	UTSW	11	121,485,100 (GRCm39)	missense	probably benign	0.00
R0349:Tbcd	UTSW	11	121,493,809 (GRCm39)	splice site	probably null
R0865:Tbcd	UTSW	11	121,493,815 (GRCm39)	missense	possibly damaging	0.88
R1203:Tbcd	UTSW	11	121,366,451 (GRCm39)	missense	probably benign	0.00
R1221:Tbcd	UTSW	11	121,387,909 (GRCm39)	missense	probably benign	0.00
R1549:Tbcd	UTSW	11	121,451,579 (GRCm39)	missense	probably benign
R1586:Tbcd	UTSW	11	121,387,886 (GRCm39)	missense	probably benign	0.13
R1671:Tbcd	UTSW	11	121,488,120 (GRCm39)	missense	probably benign	0.00
R2048:Tbcd	UTSW	11	121,431,762 (GRCm39)	missense	probably damaging	1.00
R2051:Tbcd	UTSW	11	121,344,496 (GRCm39)	missense	probably damaging	1.00
R2124:Tbcd	UTSW	11	121,494,146 (GRCm39)	missense	probably damaging	1.00
R2151:Tbcd	UTSW	11	121,494,457 (GRCm39)	missense	possibly damaging	0.95
R2153:Tbcd	UTSW	11	121,494,457 (GRCm39)	missense	possibly damaging	0.95
R3120:Tbcd	UTSW	11	121,499,474 (GRCm39)	missense	probably damaging	0.97
R4108:Tbcd	UTSW	11	121,384,637 (GRCm39)	missense	probably benign	0.00
R4244:Tbcd	UTSW	11	121,485,107 (GRCm39)	missense	probably damaging	1.00
R4587:Tbcd	UTSW	11	121,496,097 (GRCm39)	missense	possibly damaging	0.75
R4684:Tbcd	UTSW	11	121,384,597 (GRCm39)	missense	probably damaging	1.00
R4837:Tbcd	UTSW	11	121,473,611 (GRCm39)	critical splice donor site	probably null
R4861:Tbcd	UTSW	11	121,492,787 (GRCm39)	missense	probably damaging	1.00
R4861:Tbcd	UTSW	11	121,492,787 (GRCm39)	missense	probably damaging	1.00
R4960:Tbcd	UTSW	11	121,464,681 (GRCm39)	missense	probably benign	0.03
R5157:Tbcd	UTSW	11	121,500,853 (GRCm39)	missense	probably benign	0.14
R5166:Tbcd	UTSW	11	121,500,216 (GRCm39)	missense	possibly damaging	0.87
R5403:Tbcd	UTSW	11	121,451,569 (GRCm39)	missense	probably damaging	0.99
R5406:Tbcd	UTSW	11	121,342,927 (GRCm39)	missense	probably benign
R5509:Tbcd	UTSW	11	121,492,838 (GRCm39)	missense	probably benign	0.00
R5767:Tbcd	UTSW	11	121,483,518 (GRCm39)	missense	probably benign	0.00
R5923:Tbcd	UTSW	11	121,470,978 (GRCm39)	missense	probably benign
R5966:Tbcd	UTSW	11	121,492,737 (GRCm39)	intron	probably benign
R6330:Tbcd	UTSW	11	121,387,912 (GRCm39)	missense	probably benign
R6539:Tbcd	UTSW	11	121,447,813 (GRCm39)	critical splice donor site	probably null
R6852:Tbcd	UTSW	11	121,500,206 (GRCm39)	missense	probably benign	0.36
R6859:Tbcd	UTSW	11	121,387,937 (GRCm39)	missense	possibly damaging	0.81
R7348:Tbcd	UTSW	11	121,485,137 (GRCm39)	missense	probably benign	0.22
R7479:Tbcd	UTSW	11	121,383,431 (GRCm39)	critical splice donor site	probably null
R7679:Tbcd	UTSW	11	121,494,534 (GRCm39)	missense	probably benign	0.01
R8121:Tbcd	UTSW	11	121,487,969 (GRCm39)	splice site	probably null
R8163:Tbcd	UTSW	11	121,384,711 (GRCm39)	missense	probably benign	0.00
R8165:Tbcd	UTSW	11	121,384,711 (GRCm39)	missense	probably benign	0.00
R8172:Tbcd	UTSW	11	121,384,711 (GRCm39)	missense	probably benign	0.00
R8973:Tbcd	UTSW	11	121,387,679 (GRCm39)	unclassified	probably benign
R8975:Tbcd	UTSW	11	121,387,679 (GRCm39)	unclassified	probably benign
R9314:Tbcd	UTSW	11	121,487,297 (GRCm39)	missense	probably benign	0.01
R9345:Tbcd	UTSW	11	121,464,648 (GRCm39)	missense	probably damaging	1.00
R9556:Tbcd	UTSW	11	121,467,053 (GRCm39)	missense	probably damaging	0.96
R9673:Tbcd	UTSW	11	121,464,647 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbcd	UTSW	11	121,481,232 (GRCm39)	missense	probably null	0.14

Posted On

2015-04-16