Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Thoc6'

366096

Institutional Source

Beutler Lab

Gene Symbol

Thoc6

Ensembl Gene

ENSMUSG00000041319

Gene Name

THO complex 6

Synonyms

Wdr58, F830014G06Rik

MMRRC Submission

042406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23887588-23892856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23889862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 20 (L20P)

Ref Sequence

ENSEMBL: ENSMUSP00000123075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000024698] [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000138190] [ENSMUST00000167059] [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: 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 damaging
Transcript: ENSMUST00000047436
AA Change: L20P

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

SMART Domains

Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: L20P

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 damaging
Transcript: ENSMUST00000095579
AA Change: L20P

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

SMART Domains

Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: L20P

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 damaging
Transcript: ENSMUST00000115489
AA Change: L16P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: L16P

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 damaging
Transcript: ENSMUST00000115490
AA Change: L20P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
AA Change: L20P

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 damaging
Transcript: ENSMUST00000138190
AA Change: L20P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319
AA Change: L20P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125443

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,987 (GRCm39)	R490C	probably benign	Het
Abcb11	A	T	2: 69,076,211 (GRCm39)	F1166I	probably damaging	Het
Acta2	T	C	19: 34,223,552 (GRCm39)	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,255,038 (GRCm39)	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,603,117 (GRCm39)	S49A	probably benign	Het
Azi2	A	T	9: 117,890,539 (GRCm39)		probably benign	Het
Bend3	A	T	10: 43,386,746 (GRCm39)	S380C	probably damaging	Het
Bicc1	T	C	10: 70,776,423 (GRCm39)	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,364 (GRCm39)	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 48,166,582 (GRCm39)	W75L	probably damaging	Het
Cenpj	G	A	14: 56,787,002 (GRCm39)	R192*	probably null	Het
Cflar	T	C	1: 58,771,480 (GRCm39)	S203P	probably damaging	Het
Chd6	A	T	2: 160,808,164 (GRCm39)	C1683*	probably null	Het
Cpsf2	A	G	12: 101,963,699 (GRCm39)	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,388 (GRCm39)	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,044,441 (GRCm39)	R1536S	probably damaging	Het
Depdc5	A	C	5: 33,094,979 (GRCm39)	D752A	probably damaging	Het
Dnah9	C	T	11: 65,818,552 (GRCm39)	G78D	probably damaging	Het
Drc1	G	T	5: 30,506,075 (GRCm39)	Q249H	probably benign	Het
Drg1	T	C	11: 3,200,280 (GRCm39)	I364V	probably benign	Het
Dtymk	T	C	1: 93,720,631 (GRCm39)	H130R	probably damaging	Het
Elac2	T	G	11: 64,883,048 (GRCm39)	F140V	probably damaging	Het
Enpp2	A	G	15: 54,739,068 (GRCm39)	V353A	possibly damaging	Het
Fat2	T	C	11: 55,172,013 (GRCm39)	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,699,693 (GRCm39)	T536K	probably benign	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gadl1	A	G	9: 115,795,381 (GRCm39)	K328R	probably null	Het
Gata6	A	G	18: 11,054,394 (GRCm39)	T108A	probably benign	Het
Gm16503	G	T	4: 147,625,554 (GRCm39)	G16V	unknown	Het
Gpr37	T	G	6: 25,669,107 (GRCm39)	E579A	probably damaging	Het
Gps2	T	C	11: 69,807,187 (GRCm39)		probably benign	Het
Hcn4	A	T	9: 58,765,260 (GRCm39)	I581F	unknown	Het
Hfm1	T	A	5: 106,990,405 (GRCm39)	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,237,126 (GRCm39)	S1018R	probably benign	Het
Katnal2	C	T	18: 77,065,239 (GRCm39)		probably null	Het
Kctd8	T	C	5: 69,498,191 (GRCm39)	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,711,592 (GRCm39)	C459R	probably damaging	Het
Ly6l	A	T	15: 75,321,543 (GRCm39)	I48L	probably benign	Het
Megf10	A	T	18: 57,420,866 (GRCm39)	I835F	possibly damaging	Het
Mei1	A	T	15: 81,996,686 (GRCm39)	I946F	possibly damaging	Het
Mrtfb	C	A	16: 13,230,458 (GRCm39)	P1048T	probably damaging	Het
Myo7b	G	C	18: 32,094,953 (GRCm39)	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,639,387 (GRCm39)		probably null	Het
Or4b13	T	A	2: 90,082,807 (GRCm39)	Y175F	probably damaging	Het
Or5b24	T	C	19: 12,912,440 (GRCm39)	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,955,122 (GRCm39)	S799P	probably benign	Het
Plk4	A	G	3: 40,756,457 (GRCm39)	E97G	probably damaging	Het
Pole2	A	T	12: 69,268,826 (GRCm39)	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,250,488 (GRCm39)	V109L	probably benign	Het
Scn8a	A	G	15: 100,938,352 (GRCm39)	H1917R	probably benign	Het
Scyl2	C	T	10: 89,495,160 (GRCm39)	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,185,690 (GRCm39)	E298D	probably benign	Het
Shoc2	A	G	19: 53,976,734 (GRCm39)	E208G	probably benign	Het
Sin3a	G	A	9: 57,004,087 (GRCm39)	V280I	probably benign	Het
Slc26a2	A	T	18: 61,332,558 (GRCm39)	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414 (GRCm38)	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,195,427 (GRCm39)	F430L	possibly damaging	Het
Snx19	A	C	9: 30,351,453 (GRCm39)	Q840H	probably damaging	Het
Spast	C	A	17: 74,676,211 (GRCm39)	D340E	probably damaging	Het
Sprr4	G	A	3: 92,407,716 (GRCm39)	P29S	unknown	Het
Stk11ip	T	G	1: 75,503,799 (GRCm39)	L239R	probably damaging	Het
Tnfrsf8	A	T	4: 145,023,447 (GRCm39)	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,633,753 (GRCm39)	I1284V	probably benign	Het
Ttn	T	C	2: 76,602,851 (GRCm39)	Y16711C	probably damaging	Het
Ttn	A	G	2: 76,541,331 (GRCm39)	L33885P	probably damaging	Het
Ubn2	T	A	6: 38,456,075 (GRCm39)	C501S	probably damaging	Het
Ubr1	A	T	2: 120,793,923 (GRCm39)	L87*	probably null	Het
Uhmk1	T	C	1: 170,027,470 (GRCm39)	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,217,947 (GRCm39)	V465A	probably damaging	Het
Vmn1r1	C	T	1: 181,985,471 (GRCm39)	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,800,182 (GRCm39)	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,555,775 (GRCm39)	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,465,212 (GRCm39)	L1790P	probably benign	Het
Zscan4d	T	A	7: 10,896,594 (GRCm39)	M259L	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
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
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
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'- TATACCCACCGTGGAAGACC -3'
(R):5'- CCTGGAGTCACTTTGTATGGGC -3'

Sequencing Primer
(F):5'- TGGCCTCTGAACTTAAGGCAG -3'
(R):5'- CACTTTGTATGGGCTGATGC -3'

Posted On

2015-12-21