Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Thoc1'

586720

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

NMP-84, 3110002N20Rik

MMRRC Submission

045664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9958176-9995486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9986343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 358 (K358N)

Ref Sequence

ENSEMBL: ENSMUSP00000025137 (fasta)

Gene Model

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

AlphaFold

Q8R3N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025137
AA Change: K358N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: K358N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,993,040 (GRCm39)	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,802,980 (GRCm39)	S462P	probably benign	Het
Adamtsl1	T	A	4: 85,972,301 (GRCm39)	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836 (GRCm39)	E123K	probably benign	Het
Brip1	A	G	11: 86,048,427 (GRCm39)	L305P	probably damaging	Het
Cage1	T	A	13: 38,206,700 (GRCm39)	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,837,146 (GRCm39)	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,948,309 (GRCm39)	N206K	probably damaging	Het
Defb34	G	A	8: 19,176,426 (GRCm39)	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,428,296 (GRCm39)	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,816,423 (GRCm39)	A325V	probably benign	Het
Dnah8	A	G	17: 30,994,077 (GRCm39)	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,183,130 (GRCm39)	I96K	probably damaging	Het
Endov	C	T	11: 119,390,692 (GRCm39)		probably benign	Het
Fer1l6	A	T	15: 58,430,245 (GRCm39)	Q224L	probably benign	Het
Fmo2	T	C	1: 162,704,613 (GRCm39)	N431S	possibly damaging	Het
Gata3	A	C	2: 9,867,943 (GRCm39)	V337G	probably damaging	Het
Gtse1	G	A	15: 85,746,432 (GRCm39)	V83M	probably damaging	Het
Hgd	C	A	16: 37,439,241 (GRCm39)	P224H	possibly damaging	Het
Kcnh6	T	C	11: 105,908,374 (GRCm39)	V330A	probably damaging	Het
Kiz	C	G	2: 146,798,169 (GRCm39)	I631M	probably damaging	Het
Klhl18	T	C	9: 110,265,118 (GRCm39)	D366G	probably benign	Het
Lrmda	C	T	14: 22,069,925 (GRCm39)		probably benign	Het
Mc1r	G	T	8: 124,134,906 (GRCm39)	A220S	probably damaging	Het
Megf6	T	A	4: 154,355,201 (GRCm39)	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,144 (GRCm39)	R355*	probably null	Het
Mmp28	T	A	11: 83,335,658 (GRCm39)	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,370,488 (GRCm39)	A70T	probably damaging	Het
Mtif3	T	G	5: 146,895,757 (GRCm39)	D110A	possibly damaging	Het
Mtss2	G	A	8: 111,464,268 (GRCm39)	R361H	possibly damaging	Het
Mvp	T	C	7: 126,591,483 (GRCm39)	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,133,174 (GRCm39)	C940R	probably damaging	Het
Nmur2	C	T	11: 55,917,808 (GRCm39)	V394I	probably benign	Het
Nwd2	A	G	5: 63,965,624 (GRCm39)	H1736R	probably benign	Het
Or2n1c	T	C	17: 38,519,934 (GRCm39)	I266T	probably benign	Het
Pira13	A	T	7: 3,827,611 (GRCm39)	F182Y	unknown	Het
Purg	A	G	8: 33,906,661 (GRCm39)	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,765,013 (GRCm39)	M880L	probably benign	Het
Rap1gap	T	C	4: 137,447,293 (GRCm39)	F413L	possibly damaging	Het
Sart3	A	T	5: 113,892,440 (GRCm39)		probably null	Het
Scaf4	G	A	16: 90,026,740 (GRCm39)	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,819,735 (GRCm39)	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,065,330 (GRCm39)	V184L		Het
Slc5a11	C	T	7: 122,864,421 (GRCm39)	A339V	probably damaging	Het
Stab2	A	T	10: 86,705,028 (GRCm39)	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,387,056 (GRCm39)	D172N	probably benign	Het
Tasor	A	G	14: 27,188,243 (GRCm39)	I896M	probably benign	Het
Tasor2	G	A	13: 3,624,752 (GRCm39)	P1733S	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ttll8	A	C	15: 88,818,132 (GRCm39)	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,461,784 (GRCm39)	Q159*	probably null	Het
Xrn1	A	G	9: 95,893,732 (GRCm39)	H967R	not run	Het
Zeb2	T	C	2: 44,884,544 (GRCm39)	D1049G	probably damaging	Het

Other mutations in Thoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Thoc1	APN	18	9,989,744 (GRCm39)	missense	possibly damaging	0.90
IGL01313:Thoc1	APN	18	9,987,158 (GRCm39)	missense	probably benign	0.05
IGL01501:Thoc1	APN	18	9,986,321 (GRCm39)	missense	possibly damaging	0.96
IGL01533:Thoc1	APN	18	9,962,376 (GRCm39)	missense	probably benign	0.02
IGL01821:Thoc1	APN	18	9,993,429 (GRCm39)	missense	probably benign
IGL01838:Thoc1	APN	18	9,993,386 (GRCm39)	missense	possibly damaging	0.94
IGL02193:Thoc1	APN	18	9,992,863 (GRCm39)	missense	probably benign	0.01
IGL02531:Thoc1	APN	18	9,970,258 (GRCm39)	missense	probably benign
IGL03203:Thoc1	APN	18	9,960,483 (GRCm39)	splice site	probably benign
R0724:Thoc1	UTSW	18	9,963,829 (GRCm39)	missense	probably damaging	1.00
R0831:Thoc1	UTSW	18	9,963,267 (GRCm39)	missense	probably benign	0.00
R2196:Thoc1	UTSW	18	9,986,300 (GRCm39)	missense	probably damaging	0.99
R2256:Thoc1	UTSW	18	9,993,466 (GRCm39)	missense	possibly damaging	0.85
R2257:Thoc1	UTSW	18	9,993,466 (GRCm39)	missense	possibly damaging	0.85
R2289:Thoc1	UTSW	18	9,984,488 (GRCm39)	missense	probably damaging	1.00
R2508:Thoc1	UTSW	18	9,977,947 (GRCm39)	missense	probably damaging	0.99
R2937:Thoc1	UTSW	18	9,959,255 (GRCm39)	missense	probably damaging	0.96
R3967:Thoc1	UTSW	18	9,968,787 (GRCm39)	missense	probably damaging	0.99
R4012:Thoc1	UTSW	18	9,987,651 (GRCm39)	missense	possibly damaging	0.87
R4320:Thoc1	UTSW	18	9,960,493 (GRCm39)	missense	probably benign
R4686:Thoc1	UTSW	18	9,970,312 (GRCm39)	nonsense	probably null
R4811:Thoc1	UTSW	18	9,993,438 (GRCm39)	missense	probably damaging	0.97
R4962:Thoc1	UTSW	18	9,962,387 (GRCm39)	missense	probably benign	0.01
R5486:Thoc1	UTSW	18	9,992,204 (GRCm39)	missense	probably benign	0.39
R5648:Thoc1	UTSW	18	9,962,390 (GRCm39)	missense	possibly damaging	0.94
R6291:Thoc1	UTSW	18	9,993,330 (GRCm39)	missense	probably benign
R6406:Thoc1	UTSW	18	9,977,963 (GRCm39)	missense	probably damaging	1.00
R6458:Thoc1	UTSW	18	9,993,333 (GRCm39)	missense	probably benign
R7379:Thoc1	UTSW	18	9,992,902 (GRCm39)	missense	probably benign	0.25
R7685:Thoc1	UTSW	18	9,993,454 (GRCm39)	nonsense	probably null
R7795:Thoc1	UTSW	18	9,986,300 (GRCm39)	missense	probably damaging	0.96
R7799:Thoc1	UTSW	18	9,984,441 (GRCm39)	missense	probably damaging	1.00
R8498:Thoc1	UTSW	18	9,989,693 (GRCm39)	missense	probably benign	0.00
R8779:Thoc1	UTSW	18	9,993,366 (GRCm39)	missense	probably benign	0.18
R9302:Thoc1	UTSW	18	9,968,800 (GRCm39)	missense	possibly damaging	0.77
R9488:Thoc1	UTSW	18	9,992,168 (GRCm39)	missense	probably damaging	1.00
X0057:Thoc1	UTSW	18	9,992,178 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTCAGACCAGGTAATTGAATGTC -3'
(R):5'- AACTTTCTGCATCATAGGAGTGG -3'

Sequencing Primer
(F):5'- CCAGGTAATTGAATGTCTTATTTGCC -3'
(R):5'- TGGTTTGTAGGCAGAGAACC -3'

Posted On

2019-10-24