Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Thoc1'

369480

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

3110002N20Rik, NMP-84

MMRRC Submission

042430-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9958180-9995484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9993438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 599 (I599T)

Ref Sequence

ENSEMBL: ENSMUSP00000025137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025137] [ENSMUST00000092096] [ENSMUST00000116669]

AlphaFold

Q8R3N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025137
AA Change: I599T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: I599T

Domain	Start	End	E-Value	Type
Pfam:efThoc1	69	546	7.2e-149	PFAM
DEATH	560	653	1.27e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092096

SMART Domains

Protein: ENSMUSP00000089728
Gene: ENSMUSG00000047879

Domain	Start	End	E-Value	Type
UBQ	4	74	3.61e-11	SMART
Pfam:UCH	104	479	9e-57	PFAM
Pfam:UCH_1	105	456	3.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116669

SMART Domains

Protein: ENSMUSP00000112368
Gene: ENSMUSG00000047879

Domain	Start	End	E-Value	Type
UBQ	4	73	2.63e-4	SMART
low complexity region	217	235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133594

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mutations in this gene result in embryonic lethality around implantation in homozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,708		probably benign	Het
Adam3	C	T	8: 24,711,724	G208R	probably benign	Het
AI481877	T	C	4: 59,082,404	N408S	probably benign	Het
Arsg	G	T	11: 109,534,072	V290L	probably benign	Het
Cad	A	G	5: 31,074,690	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,791	T113A	probably benign	Het
Crocc2	G	A	1: 93,205,896	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,545,106	T291A	probably benign	Het
Dcc	T	A	18: 71,299,483	H1300L	probably benign	Het
Ddx23	T	A	15: 98,647,471		probably null	Het
Dnhd1	T	G	7: 105,714,281	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,254,544	F729L	probably damaging	Het
Ercc6	G	T	14: 32,574,929	R1292L	probably benign	Het
Fam186b	C	T	15: 99,280,237	V403M	probably benign	Het
Fam227a	T	C	15: 79,615,427	N576D	possibly damaging	Het
Fam46b	T	C	4: 133,486,370	L184P	probably benign	Het
Fbln1	A	G	15: 85,226,966		probably null	Het
Fbxw17	T	C	13: 50,425,633	V162A	probably benign	Het
Gas2l1	A	C	11: 5,064,436	I8S	probably damaging	Het
Gm7030	A	G	17: 36,127,776	L241S	probably damaging	Het
Golgb1	T	C	16: 36,891,419	L195P	probably damaging	Het
Gps2	A	T	11: 69,915,928	H233L	probably damaging	Het
Guf1	T	G	5: 69,564,509		probably null	Het
Il1rap	T	A	16: 26,701,238		probably null	Het
Ints14	A	G	9: 64,964,518	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,356,969	Q293H	probably damaging	Het
Kank2	A	G	9: 21,775,747	L593P	probably damaging	Het
Krt19	T	C	11: 100,141,348	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,200,408	V86A	probably damaging	Het
Lins1	T	A	7: 66,708,150	I11K	probably benign	Het
Lrba	T	C	3: 86,776,141	F2757L	probably damaging	Het
Lyst	T	C	13: 13,777,100	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,635,025	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,959,382	Q38L	probably benign	Het
Mtss1	A	G	15: 58,944,073	F546S	probably damaging	Het
Myo5a	G	A	9: 75,141,543		probably null	Het
Naip6	C	A	13: 100,285,791	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,451,592	T107I	probably benign	Het
Nek8	C	T	11: 78,167,718		probably null	Het
Nphs1	T	C	7: 30,460,429	V55A	probably damaging	Het
Nrp2	C	A	1: 62,719,081	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,795,383	S39N	probably damaging	Het
Olfr1164	A	G	2: 88,093,532	F135L	probably benign	Het
Olfr1391	T	G	11: 49,327,748	S112R	possibly damaging	Het
Olfr309	T	C	7: 86,306,958	T52A	probably benign	Het
Olfr871	A	T	9: 20,212,753	I135F	probably damaging	Het
Pan3	T	A	5: 147,530,058	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,095,983	S291A	probably benign	Het
Pcdh17	A	C	14: 84,447,935	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,697,535	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,843	E126*	probably null	Het
Pik3ap1	A	G	19: 41,302,497	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,337,813	I186T	probably damaging	Het
Pnkd	G	A	1: 74,349,405		probably null	Het
Poc1a	A	G	9: 106,349,709	T334A	probably damaging	Het
Pou2f2	T	A	7: 25,097,686	K211*	probably null	Het
Rdh13	T	C	7: 4,442,653	E94G	probably benign	Het
Rnf186	A	G	4: 138,967,187	S13G	probably benign	Het
Ryr2	T	C	13: 11,655,698	R3471G	probably damaging	Het
Sbf2	T	C	7: 110,372,535	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,398,166		probably benign	Het
Snn	T	C	16: 11,072,533	V72A	probably benign	Het
Sys1	T	A	2: 164,464,424	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,435,567	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,669,000	L550Q	probably damaging	Het
Tle3	C	T	9: 61,373,997		probably benign	Het
Tll1	A	C	8: 64,085,473	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,037,730	E78K	probably benign	Het
Tpgs2	A	G	18: 25,129,840		probably benign	Het
Trpm1	T	C	7: 64,208,306	L165P	probably damaging	Het
Trpm5	T	C	7: 143,080,219	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,740,070	S1201A	possibly damaging	Het
Ust	T	A	10: 8,245,941	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,735,953	F543L	probably benign	Het
Yeats2	T	A	16: 20,152,895		probably null	Het
Zfp85	T	C	13: 67,749,626	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,243,713	V362E	probably benign	Het
Znrf3	A	T	11: 5,287,420	C134S	probably benign	Het

Other mutations in Thoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Thoc1	APN	18	9989744	missense	possibly damaging	0.90
IGL01313:Thoc1	APN	18	9987158	missense	probably benign	0.05
IGL01501:Thoc1	APN	18	9986321	missense	possibly damaging	0.96
IGL01533:Thoc1	APN	18	9962376	missense	probably benign	0.02
IGL01821:Thoc1	APN	18	9993429	missense	probably benign
IGL01838:Thoc1	APN	18	9993386	missense	possibly damaging	0.94
IGL02193:Thoc1	APN	18	9992863	missense	probably benign	0.01
IGL02531:Thoc1	APN	18	9970258	missense	probably benign
IGL03203:Thoc1	APN	18	9960483	splice site	probably benign
R0724:Thoc1	UTSW	18	9963829	missense	probably damaging	1.00
R0831:Thoc1	UTSW	18	9963267	missense	probably benign	0.00
R2196:Thoc1	UTSW	18	9986300	missense	probably damaging	0.99
R2256:Thoc1	UTSW	18	9993466	missense	possibly damaging	0.85
R2257:Thoc1	UTSW	18	9993466	missense	possibly damaging	0.85
R2289:Thoc1	UTSW	18	9984488	missense	probably damaging	1.00
R2508:Thoc1	UTSW	18	9977947	missense	probably damaging	0.99
R2937:Thoc1	UTSW	18	9959255	missense	probably damaging	0.96
R3967:Thoc1	UTSW	18	9968787	missense	probably damaging	0.99
R4012:Thoc1	UTSW	18	9987651	missense	possibly damaging	0.87
R4320:Thoc1	UTSW	18	9960493	missense	probably benign
R4686:Thoc1	UTSW	18	9970312	nonsense	probably null
R4962:Thoc1	UTSW	18	9962387	missense	probably benign	0.01
R5486:Thoc1	UTSW	18	9992204	missense	probably benign	0.39
R5648:Thoc1	UTSW	18	9962390	missense	possibly damaging	0.94
R6291:Thoc1	UTSW	18	9993330	missense	probably benign
R6406:Thoc1	UTSW	18	9977963	missense	probably damaging	1.00
R6458:Thoc1	UTSW	18	9993333	missense	probably benign
R7379:Thoc1	UTSW	18	9992902	missense	probably benign	0.25
R7580:Thoc1	UTSW	18	9986343	missense	probably damaging	0.98
R7685:Thoc1	UTSW	18	9993454	nonsense	probably null
R7795:Thoc1	UTSW	18	9986300	missense	probably damaging	0.96
R7799:Thoc1	UTSW	18	9984441	missense	probably damaging	1.00
R8498:Thoc1	UTSW	18	9989693	missense	probably benign	0.00
R8779:Thoc1	UTSW	18	9993366	missense	probably benign	0.18
R9302:Thoc1	UTSW	18	9968800	missense	possibly damaging	0.77
R9488:Thoc1	UTSW	18	9992168	missense	probably damaging	1.00
X0057:Thoc1	UTSW	18	9992178	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCCAGTGGTCATTTCAGCTTTG -3'
(R):5'- GAACCTTTTATCAAATGCTGCTTGG -3'

Sequencing Primer
(F):5'- CATTTCAGCTTTGCAGTTATTTCAG -3'
(R):5'- GAAAGCTAACTGTTTGTTTCAGTGTC -3'

Posted On

2016-02-04