Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:Thoc3'

646314

Institutional Source

Beutler Lab

Gene Symbol

Thoc3

Ensembl Gene

ENSMUSG00000025872

Gene Name

THO complex 3

Synonyms

2410044K02Rik

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54606650-54616653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54615708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000026990 (fasta)

Gene Model

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

AlphaFold

Q8VE80

Predicted Effect

probably damaging
Transcript: ENSMUST00000026990
AA Change: S119P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: S119P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	A	16: 90,852,657 (GRCm39)	H160Y	probably benign	Het
Abcc4	T	G	14: 118,864,869 (GRCm39)	I386L	probably benign	Het
Arap2	G	A	5: 62,761,669 (GRCm39)	R1686*	probably null	Het
Arfgef3	A	T	10: 18,465,477 (GRCm39)	I2122N	probably benign	Het
Arhgap44	A	T	11: 64,950,680 (GRCm39)	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,790,747 (GRCm39)		probably null	Het
Bltp1	T	A	3: 37,065,752 (GRCm39)	L9M		Het
Brinp1	A	T	4: 68,716,936 (GRCm39)	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,044,465 (GRCm39)	V349A	probably benign	Het
Ccdc93	T	C	1: 121,405,597 (GRCm39)	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,422,126 (GRCm39)	I534S	probably benign	Het
Cyb5r4	A	T	9: 86,922,486 (GRCm39)	D165V	probably benign	Het
Cygb	G	A	11: 116,540,109 (GRCm39)	T180I	probably benign	Het
Cyp4f15	T	A	17: 32,916,939 (GRCm39)	S285R	probably benign	Het
Daxx	G	T	17: 34,131,590 (GRCm39)	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,185,043 (GRCm39)	E483G	probably damaging	Het
Dennd1a	T	A	2: 37,938,766 (GRCm39)	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,664,796 (GRCm39)	D198G	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Ermard	T	C	17: 15,273,560 (GRCm39)	F382L	probably damaging	Het
Fer1l4	C	A	2: 155,861,680 (GRCm39)	G1879V	probably benign	Het
Focad	T	A	4: 88,150,905 (GRCm39)	H516Q	unknown	Het
Gcsam	T	A	16: 45,436,369 (GRCm39)	W51R	probably damaging	Het
Ikbkb	A	G	8: 23,181,097 (GRCm39)	V122A	probably benign	Het
Iqgap2	A	T	13: 95,798,111 (GRCm39)	S1065T	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Krt24	A	T	11: 99,173,534 (GRCm39)	C262*	probably null	Het
Lrat	T	C	3: 82,810,865 (GRCm39)	E52G	probably damaging	Het
Misp3	T	A	8: 84,737,627 (GRCm39)	H94L	unknown	Het
N4bp3	A	G	11: 51,535,253 (GRCm39)	L312P	probably damaging	Het
Naxe	T	C	3: 87,963,994 (GRCm39)	T246A	probably benign	Het
Pcolce2	A	T	9: 95,519,847 (GRCm39)	M1L	probably benign	Het
Slc7a6	G	A	8: 106,919,796 (GRCm39)	A270T	probably damaging	Het
Sord	T	A	2: 122,076,976 (GRCm39)	I27K	probably benign	Het
Srek1ip1	A	G	13: 104,970,798 (GRCm39)	E83G	probably benign	Het
Srgap3	A	C	6: 112,699,779 (GRCm39)	N1090K	probably benign	Het
Sult2a6	A	C	7: 13,987,327 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,223,888 (GRCm39)	I191N	probably damaging	Het
Tirap	A	G	9: 35,100,052 (GRCm39)	S211P	probably benign	Het
Tle4	T	C	19: 14,429,876 (GRCm39)	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,047,486 (GRCm39)	I126F	probably benign	Het
Txnrd1	A	G	10: 82,710,480 (GRCm39)	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,369,342 (GRCm39)	L77P	probably damaging	Het
Wwc1	G	A	11: 35,758,198 (GRCm39)	T716I	probably damaging	Het
Yod1	A	G	1: 130,645,360 (GRCm39)	K47R	probably benign	Het
Zfhx2	A	T	14: 55,304,201 (GRCm39)	M1261K	probably benign	Het
Zfhx3	T	C	8: 109,583,448 (GRCm39)	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,441,353 (GRCm39)	K436N	probably damaging	Het
Zfp979	T	C	4: 147,697,548 (GRCm39)	H387R	possibly damaging	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
R5686:Thoc3	UTSW	13	54,615,686 (GRCm39)	missense	probably damaging	0.99
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
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'- GCCAGAAAAGTGCTCTGTTC -3'
(R):5'- GGGCCAATGTCAAAGCTCAG -3'

Sequencing Primer
(F):5'- GAAAAGTGCTCTGTTCTGTTCC -3'
(R):5'- AGTGGCATCTGGATTCTGT -3'

Posted On

2020-09-02