Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Tedc2'

211546

Institutional Source

Beutler Lab

Gene Symbol

Tedc2

Ensembl Gene

ENSMUSG00000024118

Gene Name

tubulin epsilon and delta complex 2

Synonyms

1600002H07Rik

MMRRC Submission

039911-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R1891 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

24215054-24220851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24216317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 366 (E366V)

Ref Sequence

ENSEMBL: ENSMUSP00000024930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024930]

AlphaFold

Q6GQV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024930
AA Change: E366V

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

SMART Domains

Protein: ENSMUSP00000024930
Gene: ENSMUSG00000024118
AA Change: E366V

Domain	Start	End	E-Value	Type
low complexity region	32	49	N/A	INTRINSIC
low complexity region	78	84	N/A	INTRINSIC
low complexity region	111	131	N/A	INTRINSIC
Pfam:DUF4693	150	434	8.6e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124557

SMART Domains

Protein: ENSMUSP00000119405
Gene: ENSMUSG00000024118

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171563

Meta Mutation Damage Score

0.4034

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,926,033	M135K	possibly damaging	Het
Abca7	T	C	10: 80,005,040	I921T	possibly damaging	Het
Abca8a	T	C	11: 110,091,607	K3R	probably benign	Het
Adgrl3	A	T	5: 81,512,044	D152V	probably damaging	Het
Akap6	A	T	12: 53,142,175	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,659,575	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,643,508		probably benign	Het
Arid4b	T	A	13: 14,136,236	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,776,519	D219Y	probably damaging	Het
Ccdc113	A	G	8: 95,540,916	K170E	probably damaging	Het
Ccdc151	G	T	9: 21,995,381		probably null	Het
Ceacam9	A	G	7: 16,723,955	E136G	probably damaging	Het
Cfap43	A	G	19: 47,813,941	L333P	probably damaging	Het
Chl1	A	G	6: 103,714,583	D1062G	possibly damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645		probably benign	Het
Clpp	T	A	17: 56,991,307	V91E	probably damaging	Het
Cndp1	A	T	18: 84,619,633	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446	N169S	probably benign	Het
Cog6	A	C	3: 52,983,180	I613R	probably benign	Het
Creb3l1	A	G	2: 91,987,040	L376P	probably damaging	Het
Cry2	A	T	2: 92,413,640	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,859,265	M240V	possibly damaging	Het
Defa28	G	A	8: 21,583,785	C68Y	probably damaging	Het
Dgcr14	C	T	16: 17,907,780	W183*	probably null	Het
Ecd	A	G	14: 20,338,159	I187T	probably damaging	Het
Erg28	A	G	12: 85,816,188	S117P	probably benign	Het
Ergic2	A	T	6: 148,183,079	C319S	probably damaging	Het
Evc2	A	C	5: 37,392,079	D773A	probably damaging	Het
Fam151b	T	A	13: 92,450,170	T252S	probably benign	Het
Fbxo28	A	T	1: 182,317,824	M233K	probably benign	Het
Fbxw26	T	G	9: 109,722,164	D355A	probably benign	Het
Gm13101	A	T	4: 143,966,665	V81E	probably damaging	Het
Gm4884	G	C	7: 41,043,115	E169D	possibly damaging	Het
Hk2	C	T	6: 82,749,283	R94Q	probably benign	Het
Hps4	G	A	5: 112,369,556		probably null	Het
Hspg2	T	A	4: 137,565,490	D4126E	probably damaging	Het
Kif13a	T	C	13: 46,929,219	E48G	possibly damaging	Het
Krt31	T	A	11: 100,047,808	N320Y	probably damaging	Het
Lca5	T	C	9: 83,395,608	Y561C	probably damaging	Het
Lrrk1	G	A	7: 66,279,300	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,074,293	Y25*	probably null	Het
Map3k13	T	G	16: 21,911,086	M489R	probably damaging	Het
Mcm6	C	T	1: 128,335,810	R658H	probably damaging	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Het
Mitf	A	G	6: 97,941,276	T94A	probably benign	Het
Mpo	T	A	11: 87,801,280	L513*	probably null	Het
Mst1r	T	A	9: 107,913,462	N722K	probably damaging	Het
Mthfd1l	T	A	10: 4,032,284	L497*	probably null	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037	T565I	probably benign	Het
Naip2	C	T	13: 100,154,887	R1181K	probably benign	Het
Nbas	T	C	12: 13,390,972	M1101T	possibly damaging	Het
Olfr10	T	C	11: 49,317,857	F104L	probably benign	Het
Olfr1313	A	T	2: 112,072,394	L63Q	probably damaging	Het
Olfr19	T	A	16: 16,673,577	I135F	probably damaging	Het
Olfr290	T	A	7: 84,916,253	V158D	possibly damaging	Het
Olfr685	A	T	7: 105,180,547	Y270*	probably null	Het
Olfr820	T	C	10: 130,017,570	S70P	probably damaging	Het
Olfr835	T	C	9: 19,035,978	L285S	probably damaging	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,117,145	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859	V129E	probably damaging	Het
Pax7	G	A	4: 139,784,626	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,720,875	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,519,304	V275A	probably damaging	Het
Pkp3	C	T	7: 141,084,056		probably null	Het
Plekhb1	A	G	7: 100,655,392	L35P	probably damaging	Het
Pole	T	A	5: 110,332,542	F1993Y	probably damaging	Het
Prdx1	T	C	4: 116,699,254	*200R	probably null	Het
Prkdc	C	A	16: 15,725,436	T1777N	probably benign	Het
Ptpn14	G	A	1: 189,798,653	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,393,800	E63G	possibly damaging	Het
Qser1	A	C	2: 104,790,099	S123A	probably benign	Het
Rbm11	A	G	16: 75,600,787	N202D	possibly damaging	Het
Robo3	T	A	9: 37,428,055	Y212F	probably damaging	Het
Sde2	G	A	1: 180,860,008	S153N	probably benign	Het
Serpinb1c	T	A	13: 32,884,252	D179V	probably benign	Het
Skint6	T	C	4: 112,846,696	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,393,460	S46P	probably damaging	Het
St8sia4	T	C	1: 95,591,708	T352A	possibly damaging	Het
Stab1	C	A	14: 31,141,330	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,532,416	C730R	probably benign	Het
Tex33	T	A	15: 78,378,752	D234V	probably damaging	Het
Tle4	A	T	19: 14,544,786		probably null	Het
Tmem200a	T	A	10: 25,994,072	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,840,859		probably null	Het
Ttn	T	A	2: 76,875,958		probably benign	Het
Ubac1	A	G	2: 26,014,962	V88A	probably benign	Het
Urgcp	T	C	11: 5,716,910	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,475,255	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,386,069	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,455	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,052,724	E1865*	probably null	Het
Zc3h3	A	C	15: 75,756,931	M838R	possibly damaging	Het
Zfp959	T	A	17: 55,897,604	C211S	probably damaging	Het

Other mutations in Tedc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Tedc2	APN	17	24217952	missense	probably benign	0.01
IGL02111:Tedc2	APN	17	24218166	splice site	probably benign
IGL02347:Tedc2	APN	17	24220610	missense	probably damaging	1.00
IGL03400:Tedc2	APN	17	24219803	missense	probably benign
R0766:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R0766:Tedc2	UTSW	17	24216318	nonsense	probably null
R1066:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1066:Tedc2	UTSW	17	24216318	nonsense	probably null
R1067:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1067:Tedc2	UTSW	17	24216318	nonsense	probably null
R1085:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1085:Tedc2	UTSW	17	24216318	nonsense	probably null
R1086:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1086:Tedc2	UTSW	17	24216318	nonsense	probably null
R1136:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1136:Tedc2	UTSW	17	24216318	nonsense	probably null
R1137:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1137:Tedc2	UTSW	17	24216318	nonsense	probably null
R1203:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1203:Tedc2	UTSW	17	24216318	nonsense	probably null
R1345:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1345:Tedc2	UTSW	17	24216318	nonsense	probably null
R1385:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1385:Tedc2	UTSW	17	24216318	nonsense	probably null
R1396:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1396:Tedc2	UTSW	17	24216318	nonsense	probably null
R1888:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1888:Tedc2	UTSW	17	24216318	nonsense	probably null
R1888:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1888:Tedc2	UTSW	17	24216318	nonsense	probably null
R1891:Tedc2	UTSW	17	24216318	nonsense	probably null
R1943:Tedc2	UTSW	17	24217949	missense	possibly damaging	0.90
R1984:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1984:Tedc2	UTSW	17	24216318	nonsense	probably null
R1985:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1985:Tedc2	UTSW	17	24216318	nonsense	probably null
R1986:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R1986:Tedc2	UTSW	17	24216318	nonsense	probably null
R2026:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R2026:Tedc2	UTSW	17	24216318	nonsense	probably null
R2054:Tedc2	UTSW	17	24216317	missense	probably damaging	1.00
R2054:Tedc2	UTSW	17	24216318	nonsense	probably null
R2086:Tedc2	UTSW	17	24217900	missense	probably damaging	1.00
R2317:Tedc2	UTSW	17	24216384	missense	probably benign	0.00
R3705:Tedc2	UTSW	17	24216387	missense	probably benign	0.30
R4085:Tedc2	UTSW	17	24219839	missense	probably benign	0.01
R4664:Tedc2	UTSW	17	24220140	splice site	probably benign
R4676:Tedc2	UTSW	17	24220011	missense	probably benign
R4686:Tedc2	UTSW	17	24217888	critical splice donor site	probably null
R4762:Tedc2	UTSW	17	24216380	missense	probably benign	0.05
R4837:Tedc2	UTSW	17	24220593	missense	probably damaging	1.00
R4863:Tedc2	UTSW	17	24217936	missense	probably damaging	1.00
R5936:Tedc2	UTSW	17	24216341	missense	probably damaging	1.00
R9159:Tedc2	UTSW	17	24217731	missense	probably damaging	1.00
R9643:Tedc2	UTSW	17	24216354	missense	probably benign
RF031:Tedc2	UTSW	17	24216239	critical splice donor site	probably benign
Z1177:Tedc2	UTSW	17	24220571	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGGATGTCCCAGCTCACATG -3'
(R):5'- TGGCCTATAAGAAGAGAGACCTTG -3'

Sequencing Primer
(F):5'- CAGCTCACATGGAGGCCAAG -3'
(R):5'- AGACCTTGGTGATGGCTGTCAC -3'

Posted On

2014-06-30