Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Thoc1'

63836

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

NMP-84, 3110002N20Rik

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0724 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

9958176-9995486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9963829 bp (GRCm39)

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: 144,981,573 (GRCm39)	E136G	probably benign	Het
Adgre4	T	A	17: 56,159,281 (GRCm39)	S655R	probably benign	Het
Ak7	T	A	12: 105,676,513 (GRCm39)	V71E	probably benign	Het
Ank2	C	T	3: 126,755,986 (GRCm39)	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,976,607 (GRCm39)	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,499,755 (GRCm39)	I109N	possibly damaging	Het
Camta1	A	G	4: 151,162,349 (GRCm39)	I119T	probably damaging	Het
Carm1	A	G	9: 21,498,670 (GRCm39)	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077 (GRCm39)	P177L	probably benign	Het
Ccdc122	C	A	14: 77,329,517 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,766,141 (GRCm39)	S158P	probably damaging	Het
Ces3a	T	A	8: 105,776,827 (GRCm39)	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,728,081 (GRCm39)	D583A	possibly damaging	Het
Corin	A	G	5: 72,490,138 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,610,283 (GRCm39)	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,214,408 (GRCm39)	T1027A	possibly damaging	Het
Dop1b	A	G	16: 93,559,213 (GRCm39)	E653G	probably benign	Het
Dst	A	G	1: 34,227,758 (GRCm39)	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,057,877 (GRCm39)	T64A	probably benign	Het
Emp2	C	T	16: 10,102,479 (GRCm39)	C111Y	probably benign	Het
Enam	A	G	5: 88,649,853 (GRCm39)	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,193,984 (GRCm39)	C1328S	probably benign	Het
Gata3	T	C	2: 9,879,386 (GRCm39)	T197A	probably benign	Het
Gm1043	A	G	5: 37,344,573 (GRCm39)	T212A	probably damaging	Het
H2-Eb1	T	C	17: 34,534,006 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,506 (GRCm39)	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,204,317 (GRCm39)	Y239*	probably null	Het
Hoxc12	A	G	15: 102,845,490 (GRCm39)	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,096,579 (GRCm39)	I143V	probably benign	Het
Klhdc2	C	A	12: 69,343,822 (GRCm39)	F18L	probably benign	Het
Kpnb1	T	C	11: 97,069,130 (GRCm39)	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,635,570 (GRCm39)	N315I	probably damaging	Het
Map3k10	A	C	7: 27,367,780 (GRCm39)	V286G	probably damaging	Het
Myo7b	G	A	18: 32,138,602 (GRCm39)		probably benign	Het
Nlrp2	G	T	7: 5,322,221 (GRCm39)	L809I	probably damaging	Het
Oacyl	T	C	18: 65,870,896 (GRCm39)		probably benign	Het
Or4q3	A	G	14: 50,583,374 (GRCm39)	V175A	possibly damaging	Het
Paxbp1	T	A	16: 90,833,424 (GRCm39)	D270V	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pira13	T	C	7: 3,819,871 (GRCm39)	N564S	possibly damaging	Het
Plcb3	G	A	19: 6,940,760 (GRCm39)	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,546,350 (GRCm39)	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,583,144 (GRCm39)	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,159,752 (GRCm39)	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,972,643 (GRCm39)		probably benign	Het
Smim14	A	G	5: 65,610,682 (GRCm39)		probably benign	Het
Sost	C	T	11: 101,857,744 (GRCm39)	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,652,301 (GRCm39)	A727E	probably damaging	Het
Tmem132b	A	T	5: 125,860,485 (GRCm39)	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tshr	T	C	12: 91,505,060 (GRCm39)	F666S	probably damaging	Het
Wdr1	A	G	5: 38,698,205 (GRCm39)	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,335,482 (GRCm39)	W416R	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
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
R7580:Thoc1	UTSW	18	9,986,343 (GRCm39)	missense	probably damaging	0.98
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'- GTGACCAGAAGAATAGGTGTTGGTGG -3'
(R):5'- ACATGCATTTACACAGCCAGGTAAATCA -3'

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

Posted On

2013-07-30