Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02492:Tbcd'

295693

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 #

IGL02492

Quality Score

Status

Chromosome

Chromosomal Location

121342817-121507996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121387960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 364 (I364L)

Ref Sequence

ENSEMBL: ENSMUSP00000099302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103013] [ENSMUST00000106093]

AlphaFold

Q8BYA0

Predicted Effect

probably benign
Transcript: ENSMUST00000103013
AA Change: I364L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: I364L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106093

Predicted Effect

probably benign
Transcript: ENSMUST00000125167

SMART Domains

Protein: ENSMUSP00000124735
Gene: ENSMUSG00000039230

Domain	Start	End	E-Value	Type
low complexity region	36	58	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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	A	G	9: 53,367,159 (GRCm39)	L2482P	probably damaging	Het
Bcl11b	T	C	12: 107,881,945 (GRCm39)	Y718C	probably damaging	Het
Bltp1	A	G	3: 37,102,262 (GRCm39)	E1320G	probably benign	Het
Ccrl2	A	G	9: 110,884,871 (GRCm39)	I209T	probably benign	Het
Cd200r2	A	G	16: 44,729,903 (GRCm39)	K149R	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col18a1	A	G	10: 76,907,855 (GRCm39)		probably benign	Het
Cops5	T	A	1: 10,097,377 (GRCm39)	T291S	probably benign	Het
Csmd1	C	A	8: 16,052,597 (GRCm39)	V2176F	probably benign	Het
Ctse	C	A	1: 131,595,972 (GRCm39)	S221R	probably damaging	Het
Cxcl3	A	G	5: 90,934,199 (GRCm39)		probably null	Het
Cyp51	C	T	5: 4,154,304 (GRCm39)	V2I	probably benign	Het
Dennd5a	A	G	7: 109,532,844 (GRCm39)	F285L	probably benign	Het
Dst	T	G	1: 34,191,274 (GRCm39)		probably benign	Het
Frzb	A	T	2: 80,254,935 (GRCm39)		probably benign	Het
Gm5070	A	T	3: 95,318,354 (GRCm39)		noncoding transcript	Het
Gm9637	A	G	14: 19,402,182 (GRCm38)		noncoding transcript	Het
Grip1	A	G	10: 119,765,945 (GRCm39)		probably benign	Het
Itga4	C	T	2: 79,086,001 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,856,439 (GRCm39)	I675N	probably damaging	Het
Or4n4b	T	G	14: 50,536,060 (GRCm39)	K235N	probably damaging	Het
Pcdhb20	G	T	18: 37,639,453 (GRCm39)	V660L	probably benign	Het
Prex2	T	G	1: 11,194,069 (GRCm39)	L484R	possibly damaging	Het
Prkg1	A	T	19: 30,701,602 (GRCm39)	V305D	probably damaging	Het
Rab44	A	G	17: 29,365,023 (GRCm39)		probably benign	Het
Smpd4	C	T	16: 17,457,215 (GRCm39)	A391V	probably damaging	Het
Smyd4	T	C	11: 75,294,252 (GRCm39)	L711P	probably benign	Het
Spag16	T	G	1: 69,926,688 (GRCm39)	M261R	probably benign	Het
Steap1	A	G	5: 5,790,561 (GRCm39)	V129A	possibly damaging	Het
Trmt13	C	T	3: 116,376,192 (GRCm39)	D400N	possibly damaging	Het
Vps13a	A	G	19: 16,625,001 (GRCm39)	S2753P	probably damaging	Het
Xirp2	T	G	2: 67,346,511 (GRCm39)	S2917R	probably damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	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
IGL02620:Tbcd	APN	11	121,352,081 (GRCm39)	missense	probably damaging	1.00
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