Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Thoc1'

63836

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

3110002N20Rik, NMP-84

MMRRC Submission

038906-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0724 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

9958180-9995484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9963829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 144 (L144P)

Ref Sequence

ENSEMBL: ENSMUSP00000025137 (fasta)

Gene Model

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

AlphaFold

Q8R3N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025137
AA Change: L144P

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

SMART Domains

Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: L144P

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

Meta Mutation Damage Score

0.8870

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	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
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
R4811:Thoc1	UTSW	18	9993438	missense	probably damaging	0.97
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'- GTGACCAGAAGAATAGGTGTTGGTGG -3'
(R):5'- ACATGCATTTACACAGCCAGGTAAATCA -3'

Sequencing Primer
(F):5'- ctcaaactcagaaatccgcc -3'
(R):5'- ACTATGATTCAGTAGCACCCTG -3'

Posted On

2013-07-30