Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Tbcd'

353545

Institutional Source

Beutler Lab

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 #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121342817-121507996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121384597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 26 (L26P)

Ref Sequence

ENSEMBL: ENSMUSP00000101699 (fasta)

Gene Model

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

AlphaFold

Q8BYA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103013
AA Change: L277P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230
AA Change: L277P

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 damaging
Transcript: ENSMUST00000106093
AA Change: L26P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 47,083,872 (GRCm39)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,313,791 (GRCm39)	I629T	unknown	Het
4933402N03Rik	T	C	7: 130,740,413 (GRCm39)	R268G	probably damaging	Het
Abca13	A	T	11: 9,384,193 (GRCm39)	R3882*	probably null	Het
Adamts3	T	G	5: 89,850,866 (GRCm39)	T558P	probably damaging	Het
Ano2	A	G	6: 125,767,304 (GRCm39)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,850,866 (GRCm39)		probably null	Het
Boc	C	T	16: 44,320,743 (GRCm39)	A306T	probably benign	Het
Capn10	T	C	1: 92,871,503 (GRCm39)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,025,086 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,929,372 (GRCm39)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 131,650,767 (GRCm39)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,687,779 (GRCm39)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,312,200 (GRCm39)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,276,781 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,623,237 (GRCm39)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,326,138 (GRCm39)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,476,944 (GRCm39)	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,612,513 (GRCm39)	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,242,446 (GRCm39)	I151K	probably damaging	Het
Gga1	C	A	15: 78,769,509 (GRCm39)	P161T	probably damaging	Het
Gm9923	T	A	10: 72,145,306 (GRCm39)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,194,688 (GRCm39)	F910L	probably damaging	Het
H2-T5	A	T	17: 36,476,750 (GRCm39)	H241Q	possibly damaging	Het
Helz	T	C	11: 107,539,971 (GRCm39)	V315A	probably damaging	Het
Hk2	T	C	6: 82,716,629 (GRCm39)	Y301C	probably damaging	Het
Htt	C	T	5: 35,010,109 (GRCm39)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,366,434 (GRCm39)	M1T	probably null	Het
Ik	T	C	18: 36,885,467 (GRCm39)	S287P	probably damaging	Het
Itga1	T	A	13: 115,185,906 (GRCm39)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klk14	A	G	7: 43,341,392 (GRCm39)	I15V	probably benign	Het
Kng2	T	C	16: 22,806,391 (GRCm39)	I603V	possibly damaging	Het
Lama1	T	C	17: 68,080,773 (GRCm39)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,812,316 (GRCm39)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,504,243 (GRCm39)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,304,678 (GRCm39)	N233K	probably benign	Het
Mapk13	T	C	17: 28,989,023 (GRCm39)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm39)	F123L	probably damaging	Het
Myh4	G	C	11: 67,136,637 (GRCm39)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,585,574 (GRCm39)	N121K	probably benign	Het
Nostrin	C	T	2: 69,014,268 (GRCm39)	T408M	probably benign	Het
Oosp2	C	T	19: 11,627,017 (GRCm39)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,624,686 (GRCm39)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm39)	I202L	probably benign	Het
Pbld2	C	A	10: 62,893,476 (GRCm39)	R271S	probably damaging	Het
Pex6	C	T	17: 47,023,027 (GRCm39)	T201I	probably benign	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Pllp	T	A	8: 95,403,906 (GRCm39)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,444,902 (GRCm39)	S765G	probably benign	Het
Prkca	A	T	11: 107,852,434 (GRCm39)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,641,579 (GRCm39)	K35*	probably null	Het
Psmc2	A	G	5: 22,008,263 (GRCm39)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,331,951 (GRCm39)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,005,192 (GRCm39)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,468,581 (GRCm39)	T367K	probably benign	Het
Scube2	C	T	7: 109,409,920 (GRCm39)	R525H	probably damaging	Het
Sec14l4	T	C	11: 3,985,200 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,587,862 (GRCm39)	D751G	probably damaging	Het
Setd3	T	C	12: 108,074,949 (GRCm39)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,578,211 (GRCm39)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,243,721 (GRCm39)	S2P	probably benign	Het
Slfn8	A	T	11: 82,908,332 (GRCm39)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,576 (GRCm39)	I944V	probably benign	Het
Spg11	A	G	2: 121,895,557 (GRCm39)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,066,160 (GRCm39)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,063,844 (GRCm39)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,720,725 (GRCm39)	R121S	probably damaging	Het
Tecpr1	T	C	5: 144,144,255 (GRCm39)	D649G	probably benign	Het
Tfam	A	G	10: 71,073,677 (GRCm39)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,796,571 (GRCm39)	C79*	probably null	Het
Trmt44	C	T	5: 35,715,387 (GRCm39)	R642H	probably benign	Het
Trpm3	G	A	19: 22,965,145 (GRCm39)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,044,003 (GRCm39)	V519A	probably benign	Het
Umodl1	T	C	17: 31,217,088 (GRCm39)	F1107L	probably benign	Het
Usp5	A	T	6: 124,794,919 (GRCm39)	V677E	probably damaging	Het
Utp20	A	T	10: 88,643,307 (GRCm39)	L605*	probably null	Het
Utrn	T	C	10: 12,620,984 (GRCm39)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm39)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,650,791 (GRCm39)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,324 (GRCm39)	V1476A	probably damaging	Het
Vps13b	C	A	15: 35,879,967 (GRCm39)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,487 (GRCm39)	H2506Y	probably benign	Het
Vps37c	T	C	19: 10,690,132 (GRCm39)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,259,290 (GRCm39)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,738,607 (GRCm39)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm39)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,837,559 (GRCm39)	Y102H	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCTGCATGGTGAAGACAG -3'
(R):5'- AAAATGTTTGCTGTTCAGTCCG -3'

Sequencing Primer
(F):5'- CAGTAAGTAGGCTTCACTGTAGCTC -3'
(R):5'- GCTGTTCAGTCCGCATTGC -3'

Posted On

2015-10-21