Mutagenetix > Incidental Mutation

Incidental Mutation 'R9305:Thoc3'

705183

Institutional Source

Beutler Lab

Gene Symbol

Thoc3

Ensembl Gene

ENSMUSG00000025872

Gene Name

THO complex 3

Synonyms

2410044K02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54606650-54616653 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 54607998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 315 (W315*)

Ref Sequence

ENSEMBL: ENSMUSP00000026990 (fasta)

Gene Model

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

AlphaFold

Q8VE80

Predicted Effect

probably null
Transcript: ENSMUST00000026990
AA Change: W315*

SMART Domains

Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: W315*

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: 98.6%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Abhd8	A	G	8: 71,911,148 (GRCm39)	V261A	possibly damaging	Het
Adam34	A	T	8: 44,104,416 (GRCm39)	C410S	probably damaging	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Apob	A	G	12: 8,058,053 (GRCm39)	I2178M	probably benign	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Cacng2	T	G	15: 77,897,542 (GRCm39)	Y89S	possibly damaging	Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cdh9	T	A	15: 16,832,138 (GRCm39)	Y342N	probably damaging	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Clstn2	T	A	9: 97,343,537 (GRCm39)	I637F	probably damaging	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ddx55	C	T	5: 124,705,012 (GRCm39)	S427F	probably damaging	Het
Dpysl5	T	C	5: 30,948,959 (GRCm39)	W405R	probably damaging	Het
Esyt1	A	G	10: 128,355,388 (GRCm39)	V451A	possibly damaging	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Foxa3	A	G	7: 18,748,961 (GRCm39)	L55P	possibly damaging	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Klb	T	A	5: 65,505,988 (GRCm39)	Y78*	probably null	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Lrrc43	C	T	5: 123,646,219 (GRCm39)	A657V	unknown	Het
Mief2	C	A	11: 60,622,042 (GRCm39)	P204Q	possibly damaging	Het
Morc3	G	T	16: 93,667,302 (GRCm39)	R560L	probably benign	Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or8c20	A	C	9: 38,260,381 (GRCm39)	M1L	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Prune2	A	G	19: 17,097,625 (GRCm39)	D1043G	probably benign	Het
Rpl6	T	C	5: 121,346,516 (GRCm39)	S206P	possibly damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Stx11	A	T	10: 12,817,564 (GRCm39)	D53E	probably benign	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfc3h1	A	G	10: 115,255,771 (GRCm39)	D1474G	probably benign	Het
Zfp873	T	C	10: 81,896,514 (GRCm39)	F415S	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
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
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
Z1177:Thoc3	UTSW	13	54,607,999 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGTAGCCCAAATAGTCCGCC -3'
(R):5'- TTCAGTAAGGACAGGCTGTCTG -3'

Sequencing Primer
(F):5'- AAATAGTCCGCCCGGCCTC -3'
(R):5'- TTTTCCAGGGAGTATAGAGTAGAGGC -3'

Posted On

2022-03-25