Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Thoc3'

443380

Institutional Source

Beutler Lab

Gene Symbol

Thoc3

Ensembl Gene

ENSMUSG00000025872

Gene Name

THO complex 3

Synonyms

2410044K02Rik

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54606650-54616653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54615686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 126 (I126N)

Ref Sequence

ENSEMBL: ENSMUSP00000026990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026990]

AlphaFold

Q8VE80

Predicted Effect

probably damaging
Transcript: ENSMUST00000026990
AA Change: I126N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: I126N

Domain	Start	End	E-Value	Type
WD40	44	83	3.1e-8	SMART
WD40	88	128	1.3e-11	SMART
WD40	131	169	1.7e-3	SMART
Blast:WD40	172	210	1e-16	BLAST
WD40	213	252	3.8e-10	SMART
WD40	255	294	1.1e-3	SMART
WD40	297	346	1.4e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151158

Meta Mutation Damage Score

0.8553

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het

Other mutations in Thoc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Thoc3	APN	13	54,615,633 (GRCm39)	splice site	probably benign
IGL02811:Thoc3	APN	13	54,607,988 (GRCm39)	missense	probably benign	0.24
IGL03210:Thoc3	APN	13	54,614,035 (GRCm39)	missense	probably benign	0.00
R1512:Thoc3	UTSW	13	54,613,991 (GRCm39)	critical splice donor site	probably null
R2252:Thoc3	UTSW	13	54,615,646 (GRCm39)	missense	probably benign	0.00
R4133:Thoc3	UTSW	13	54,616,361 (GRCm39)	missense	probably benign	0.16
R5722:Thoc3	UTSW	13	54,608,014 (GRCm39)	missense	probably damaging	1.00
R6225:Thoc3	UTSW	13	54,615,785 (GRCm39)	missense	probably benign	0.04
R7088:Thoc3	UTSW	13	54,611,565 (GRCm39)	missense	probably damaging	1.00
R7098:Thoc3	UTSW	13	54,614,119 (GRCm39)	missense	probably damaging	0.98
R7662:Thoc3	UTSW	13	54,611,617 (GRCm39)	missense	probably damaging	1.00
R7778:Thoc3	UTSW	13	54,611,591 (GRCm39)	missense	probably damaging	1.00
R7824:Thoc3	UTSW	13	54,611,591 (GRCm39)	missense	probably damaging	1.00
R8369:Thoc3	UTSW	13	54,615,708 (GRCm39)	missense	probably damaging	1.00
R8987:Thoc3	UTSW	13	54,615,708 (GRCm39)	missense	possibly damaging	0.96
R9305:Thoc3	UTSW	13	54,607,998 (GRCm39)	nonsense	probably null
Z1177:Thoc3	UTSW	13	54,607,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAACCTGCCTGAATCTCCC -3'
(R):5'- CTTTGCTGGTTTCAAGGCAC -3'

Sequencing Primer
(F):5'- GCCAGAAAAGTGCTCTGTTC -3'
(R):5'- TGGTTTCAAGGCACCACTG -3'

Posted On

2016-11-09