Mutagenetix > Incidental Mutation

Incidental Mutation 'R4861:Tbcd'

374304

Institutional Source

Beutler Lab

Gene Symbol

Tbcd

Ensembl Gene

ENSMUSG00000039230

Gene Name

tubulin-specific chaperone d

Synonyms

2310057L06Rik, A030005L14Rik

MMRRC Submission

042472-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4861 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

121342817-121507996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121492787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 875 (R875C)

Ref Sequence

ENSEMBL: ENSMUSP00000099302 (fasta)

Gene Model

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

AlphaFold

Q8BYA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103013
AA Change: R875C

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

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: R875C

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

noncoding transcript
Transcript: ENSMUST00000139414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155666

Meta Mutation Damage Score

0.9363

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 87.7%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,076,249 (GRCm39)	R1153H	probably damaging	Het
Ahcy	T	C	2: 154,902,436 (GRCm39)	E411G	probably benign	Het
Alpi	T	A	1: 87,028,191 (GRCm39)	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,483,479 (GRCm39)	A1415V	probably benign	Het
Bora	T	C	14: 99,284,910 (GRCm39)		probably null	Het
Car3	T	C	3: 14,931,956 (GRCm39)	V109A	probably damaging	Het
Cdk13	A	T	13: 17,941,171 (GRCm39)	V17D	probably damaging	Het
Cept1	A	C	3: 106,413,048 (GRCm39)	S226A	probably damaging	Het
Dbt	A	T	3: 116,341,727 (GRCm39)	I443L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Farp2	T	C	1: 93,533,141 (GRCm39)	L633S	probably damaging	Het
Gm26727	T	C	2: 67,263,289 (GRCm39)	I79M	probably damaging	Het
Gm5800	T	A	14: 51,953,504 (GRCm39)	N37I	probably damaging	Het
Hapln1	G	A	13: 89,749,571 (GRCm39)	G39S	possibly damaging	Het
Ice2	T	A	9: 69,322,730 (GRCm39)	S408R	probably benign	Het
Lctl	T	C	9: 64,027,045 (GRCm39)	I131T	possibly damaging	Het
Ncoa7	T	A	10: 30,580,608 (GRCm39)	M117L	probably benign	Het
Npy4r	C	T	14: 33,868,840 (GRCm39)	W149*	probably null	Het
Nr5a2	A	G	1: 136,876,458 (GRCm39)		probably null	Het
Odad1	A	G	7: 45,592,297 (GRCm39)	E359G	probably damaging	Het
Plg	G	A	17: 12,614,622 (GRCm39)	E301K	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Rapgef2	T	C	3: 78,981,743 (GRCm39)	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,152,322 (GRCm39)	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,227,059 (GRCm39)	C170S	probably benign	Het
Slco1b2	A	T	6: 141,616,948 (GRCm39)	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090 (GRCm39)	R571H	probably benign	Het
Sp4	G	T	12: 118,264,546 (GRCm39)		probably null	Het
Tas2r117	T	C	6: 132,780,092 (GRCm39)	F77L	probably benign	Het
Thumpd2	A	G	17: 81,334,230 (GRCm39)	S453P	probably benign	Het
Vars2	G	T	17: 35,972,825 (GRCm39)	Q13K	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAATCTCTGAAACTTTCCCTGCG -3'
(R):5'- CTATGGATTCTGACACAGGCC -3'

Sequencing Primer
(F):5'- AAACTTTCCCTGCGTTTGGG -3'
(R):5'- ATTCTGACACAGGCCAGGTG -3'

Posted On

2016-03-01