Mutagenetix > Incidental Mutation

Incidental Mutation 'R6749:Tedc1'

532903

Institutional Source

Beutler Lab

Gene Symbol

Tedc1

Ensembl Gene

ENSMUSG00000037466

Gene Name

tubulin epsilon and delta complex 1

Synonyms

4930427A07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113156421-113166048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113158082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 194 (T194M)

Ref Sequence

ENSEMBL: ENSMUSP00000035351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006523] [ENSMUST00000049271] [ENSMUST00000196755] [ENSMUST00000199089] [ENSMUST00000200522] [ENSMUST00000200553]

AlphaFold

Q3UK37

Predicted Effect

probably benign
Transcript: ENSMUST00000006523

SMART Domains

Protein: ENSMUSP00000006523
Gene: ENSMUSG00000006360

Domain	Start	End	E-Value	Type
LIM	3	55	2e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000049271
AA Change: T194M

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

SMART Domains

Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: T194M

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:DUF4509	41	221	4.8e-65	PFAM
low complexity region	233	245	N/A	INTRINSIC
Pfam:DUF4510	258	418	3.1e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196755

SMART Domains

Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
Pfam:DUF4509	40	138	4.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199089

SMART Domains

Protein: ENSMUSP00000142803
Gene: ENSMUSG00000006360

Domain	Start	End	E-Value	Type
LIM	54	106	9.5e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200522

Predicted Effect

probably benign
Transcript: ENSMUST00000200553

SMART Domains

Protein: ENSMUSP00000143680
Gene: ENSMUSG00000006360

Domain	Start	End	E-Value	Type
LIM	3	55	2e-14	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,010,774	V875A	possibly damaging	Het
Arhgef15	A	T	11: 68,954,557	F156L	probably damaging	Het
Bdh2	T	A	3: 135,300,691	S184T	probably damaging	Het
Bmp5	A	T	9: 75,776,093	M1L	probably benign	Het
Cacfd1	T	C	2: 27,018,455	Y134H	probably damaging	Het
Camk1	G	A	6: 113,334,525	P340L	probably benign	Het
Ccdc105	A	C	10: 78,752,838	M46R	possibly damaging	Het
Cdc14a	T	C	3: 116,297,158	H424R	possibly damaging	Het
Cntfr	T	A	4: 41,663,232	T192S	possibly damaging	Het
Erbin	G	T	13: 103,834,377	S910R	probably damaging	Het
Esrp1	A	T	4: 11,357,519	V366E	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fsip2	T	A	2: 82,978,394	S1686T	possibly damaging	Het
Gata5	A	G	2: 180,334,350	L7S	probably damaging	Het
Hgf	T	A	5: 16,613,642		probably null	Het
Ift140	A	G	17: 25,098,916	E1458G	probably damaging	Het
Ift57	G	A	16: 49,760,984	G209R	probably benign	Het
Il12rb2	G	T	6: 67,361,966		probably benign	Het
Krt78	G	A	15: 101,950,923	R280C	probably damaging	Het
Lipc	A	G	9: 70,823,386	I88T	probably damaging	Het
Lrmda	G	T	14: 22,027,276	R27L	probably benign	Het
Lrrc37a	T	G	11: 103,502,097	E834A	probably benign	Het
Mmachc	C	A	4: 116,704,541	R132L	probably damaging	Het
Myo10	T	C	15: 25,714,110	Y88H	probably damaging	Het
Myo5b	G	A	18: 74,701,503	R878Q	possibly damaging	Het
Olfr1392	A	G	11: 49,294,050	H243R	probably damaging	Het
Padi3	T	C	4: 140,795,853	T289A	possibly damaging	Het
Pcdhgb4	G	T	18: 37,721,229	A226S	possibly damaging	Het
Pde4c	T	C	8: 70,746,010	V167A	probably damaging	Het
Pigr	A	G	1: 130,846,548	T422A	probably benign	Het
Pmp2	T	C	3: 10,182,482	Y49C	probably benign	Het
Prpf39	A	G	12: 65,056,274	I441V	possibly damaging	Het
Ptprs	A	G	17: 56,437,884	V284A	probably damaging	Het
Rsad1	T	C	11: 94,543,340	E354G	probably damaging	Het
Sema4b	T	A	7: 80,220,201	D412E	possibly damaging	Het
Siglecg	A	G	7: 43,408,979	I97V	probably benign	Het
Slc4a3	C	T	1: 75,554,538	R792*	probably null	Het
Slc6a20a	A	G	9: 123,637,070	C569R	probably damaging	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Sult2a3	T	A	7: 14,082,704	Y183F	probably benign	Het
Tmem63c	T	A	12: 87,075,665	N412K	probably damaging	Het
Trav5-1	T	C	14: 52,622,945	I69T	possibly damaging	Het
Trim68	T	C	7: 102,678,783	D321G	probably damaging	Het
Ttn	T	C	2: 76,865,256		probably benign	Het
Vars2	A	G	17: 35,666,713	V109A	probably damaging	Het
Vmn2r96	C	T	17: 18,598,090	P643L	probably damaging	Het
Zfpm2	G	T	15: 40,954,708	V146F	possibly damaging	Het
Znfx1	T	C	2: 167,056,599	K135R	probably benign	Het

Other mutations in Tedc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Tedc1	APN	12	113163150	missense	probably damaging	0.97
IGL01074:Tedc1	APN	12	113163188	nonsense	probably null
IGL01075:Tedc1	APN	12	113163188	nonsense	probably null
IGL01077:Tedc1	APN	12	113163188	nonsense	probably null
IGL01084:Tedc1	APN	12	113163188	nonsense	probably null
IGL01103:Tedc1	APN	12	113163188	nonsense	probably null
IGL01108:Tedc1	APN	12	113163188	nonsense	probably null
IGL01137:Tedc1	APN	12	113163188	nonsense	probably null
IGL01142:Tedc1	APN	12	113163188	nonsense	probably null
IGL01149:Tedc1	APN	12	113163188	nonsense	probably null
IGL01150:Tedc1	APN	12	113163188	nonsense	probably null
IGL01151:Tedc1	APN	12	113163188	nonsense	probably null
IGL02646:Tedc1	APN	12	113157301	missense	possibly damaging	0.68
IGL02989:Tedc1	APN	12	113163321	missense	probably benign	0.09
ANU05:Tedc1	UTSW	12	113163188	nonsense	probably null
ANU22:Tedc1	UTSW	12	113163188	nonsense	probably null
R1309:Tedc1	UTSW	12	113161780	missense	probably benign
R1555:Tedc1	UTSW	12	113156497	unclassified	probably benign
R2092:Tedc1	UTSW	12	113157720	missense	probably damaging	1.00
R3053:Tedc1	UTSW	12	113156467	unclassified	probably benign
R4130:Tedc1	UTSW	12	113163208	missense	probably benign	0.01
R5050:Tedc1	UTSW	12	113156705	missense	possibly damaging	0.86
R5386:Tedc1	UTSW	12	113156682	missense	probably benign	0.03
R6377:Tedc1	UTSW	12	113161355	missense	probably damaging	1.00
R6761:Tedc1	UTSW	12	113161714	missense	probably damaging	1.00
R8220:Tedc1	UTSW	12	113156755	critical splice donor site	probably null
R9240:Tedc1	UTSW	12	113157690	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTACCTGTGTCCTGGTGAGC -3'
(R):5'- AACAAACGACAGTGATTGGCTG -3'

Sequencing Primer
(F):5'- AAGCCCTCGGTGAAGTTGTC -3'
(R):5'- TGTCAAAGCCTAACACCAGC -3'

Posted On

2018-08-29