Mutagenetix > Incidental Mutation

Incidental Mutation 'R1324:Thoc6'

262739

Institutional Source

Beutler Lab

Gene Symbol

Thoc6

Ensembl Gene

ENSMUSG00000041319

Gene Name

THO complex 6

Synonyms

Wdr58, F830014G06Rik

MMRRC Submission

039390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1324 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

23887588-23892856 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 23896437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000024698] [ENSMUST00000024699] [ENSMUST00000047436] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000167059] [ENSMUST00000179928] [ENSMUST00000180140] [ENSMUST00000138190]

AlphaFold

Q5U4D9

Predicted Effect

probably benign
Transcript: ENSMUST00000024697

SMART Domains

Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	7e-72	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000024698

SMART Domains

Protein: ENSMUSP00000024698
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	129	4.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000024699

SMART Domains

Protein: ENSMUSP00000024699
Gene: ENSMUSG00000023906

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	181	2.5e-35	PFAM
Pfam:Claudin_2	15	183	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047436

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095579

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	2e-18	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	1e-11	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	2e-25	BLAST
WD40	248	284	7.36e1	SMART
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115489

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	11	47	6e-18	BLAST
WD40	61	97	2.67e-1	SMART
Blast:WD40	115	150	8e-12	BLAST
WD40	153	192	1.28e-6	SMART
Blast:WD40	196	241	3e-25	BLAST
WD40	244	280	7.36e1	SMART
low complexity region	290	301	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115490

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	7e-19	BLAST
WD40	65	101	2.67e-1	SMART
Blast:WD40	119	154	6e-12	BLAST
WD40	157	196	1.28e-6	SMART
Blast:WD40	200	245	8e-26	BLAST
Blast:WD40	248	279	4e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133849

Predicted Effect

probably null
Transcript: ENSMUST00000167059

SMART Domains

Protein: ENSMUSP00000131574
Gene: ENSMUSG00000023905

Domain	Start	End	E-Value	Type
Pfam:stn_TNFRSF12A	1	35	2.9e-13	PFAM
Pfam:stn_TNFRSF12A	32	94	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179928

SMART Domains

Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	112	3.3e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180140

SMART Domains

Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904

Domain	Start	End	E-Value	Type
Pfam:HPIP	2	116	2.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138190

SMART Domains

Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	13	51	6e-20	BLAST
WD40	65	101	2.67e-1	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	T	A	11: 61,805,847 (GRCm39)		probably null	Het
Col11a1	A	G	3: 113,824,565 (GRCm39)	R6G	unknown	Het
Enam	A	T	5: 88,641,927 (GRCm39)	Y172F	possibly damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Kif21a	A	T	15: 90,832,525 (GRCm39)		probably null	Het
Lmnb2	T	C	10: 80,740,005 (GRCm39)	I330V	possibly damaging	Het
Myom1	T	A	17: 71,359,714 (GRCm39)	I462N	probably damaging	Het
Negr1	C	T	3: 156,774,860 (GRCm39)	A192V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nrxn3	T	C	12: 89,221,466 (GRCm39)	I42T	possibly damaging	Het
Pheta2	A	G	15: 82,227,699 (GRCm39)	T73A	probably damaging	Het
Rnf141	G	A	7: 110,416,050 (GRCm39)	R184*	probably null	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Tmem39a	T	A	16: 38,393,531 (GRCm39)	F77I	possibly damaging	Het
Ttn	T	C	2: 76,611,930 (GRCm39)	D15578G	probably damaging	Het
Usp25	T	A	16: 76,877,275 (GRCm39)	M587K	probably damaging	Het

Other mutations in Thoc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01681:Thoc6	APN	17	23,888,857 (GRCm39)	missense	possibly damaging	0.68
PIT4382001:Thoc6	UTSW	17	23,887,841 (GRCm39)	missense	probably benign
R0100:Thoc6	UTSW	17	23,888,824 (GRCm39)	missense	probably damaging	1.00
R0114:Thoc6	UTSW	17	23,889,213 (GRCm39)	missense	probably benign	0.01
R0448:Thoc6	UTSW	17	23,888,550 (GRCm39)	missense	probably damaging	1.00
R1917:Thoc6	UTSW	17	23,888,364 (GRCm39)	unclassified	probably benign
R2894:Thoc6	UTSW	17	23,888,009 (GRCm39)	missense	probably damaging	0.98
R4125:Thoc6	UTSW	17	23,888,319 (GRCm39)	unclassified	probably benign
R4765:Thoc6	UTSW	17	23,889,862 (GRCm39)	missense	probably damaging	1.00
R4791:Thoc6	UTSW	17	23,889,041 (GRCm39)	missense	possibly damaging	0.74
R4962:Thoc6	UTSW	17	23,888,911 (GRCm39)	missense	probably damaging	1.00
R5527:Thoc6	UTSW	17	23,889,769 (GRCm39)	missense	probably damaging	1.00
R5940:Thoc6	UTSW	17	23,889,315 (GRCm39)	missense	probably benign	0.00
R5965:Thoc6	UTSW	17	23,889,842 (GRCm39)	missense	possibly damaging	0.80
R6232:Thoc6	UTSW	17	23,889,295 (GRCm39)	critical splice donor site	probably null
R6639:Thoc6	UTSW	17	23,889,428 (GRCm39)	splice site	probably null
R7080:Thoc6	UTSW	17	23,892,503 (GRCm39)	missense	probably null
R7133:Thoc6	UTSW	17	23,892,634 (GRCm39)	splice site	probably null
R7473:Thoc6	UTSW	17	23,889,841 (GRCm39)	missense	probably benign	0.06
R9025:Thoc6	UTSW	17	23,888,862 (GRCm39)	missense
R9359:Thoc6	UTSW	17	23,887,823 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

Posted On

2015-02-04