Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Thoc6'

554724

Institutional Source

Beutler Lab

Gene Symbol

Thoc6

Ensembl Gene

ENSMUSG00000041319

Gene Name

THO complex 6

Synonyms

Wdr58, F830014G06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23887588-23892856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23887841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 322 (N322S)

Ref Sequence

ENSEMBL: ENSMUSP00000038137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000138190] [ENSMUST00000179928] [ENSMUST00000180140]

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 benign
Transcript: ENSMUST00000047436
AA Change: N322S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: N322S

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: ENSMUST00000062967

SMART Domains

Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
coiled coil region	63	293	N/A	INTRINSIC
low complexity region	304	312	N/A	INTRINSIC
coiled coil region	354	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095579
AA Change: N322S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: N322S

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
AA Change: N318S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: N318S

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
AA Change: N277S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
AA Change: N277S

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

probably benign
Transcript: ENSMUST00000135259

SMART Domains

Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

Domain	Start	End	E-Value	Type
Blast:WD40	32	67	9e-13	BLAST
WD40	70	109	1.28e-6	SMART
Blast:WD40	113	186	4e-20	BLAST
Blast:WD40	189	209	2e-6	BLAST

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

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

Coding Region Coverage

1x: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adam10	T	C	9: 70,673,363 (GRCm39)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Mylk	C	T	16: 34,696,012 (GRCm39)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,400,355 (GRCm39)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,400,507 (GRCm39)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,178,828 (GRCm39)	D627G	probably benign	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	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
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
R1324:Thoc6	UTSW	17	23,896,437 (GRCm39)	splice site	probably null
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

PCR Primer
(F):5'- TTTTCTAAGCGCCAGGTCC -3'
(R):5'- TCAATCACTGGCAACTGAGCG -3'

Sequencing Primer
(F):5'- GCTGAATGTAACGGTTCACC -3'
(R):5'- AGCTTAAGGCCCAGGTGC -3'

Posted On

2019-06-07