Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Thoc1'

77587

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

NMP-84, 3110002N20Rik

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0831 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9958176-9995486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9963267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 127 (T127I)

Ref Sequence

ENSEMBL: ENSMUSP00000025137 (fasta)

Gene Model

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

AlphaFold

Q8R3N6

Predicted Effect

probably benign
Transcript: ENSMUST00000025137
AA Change: T127I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: T127I

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

0.0647

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

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
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	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
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'- TCCACAGGGAGAACCTGTCACAA -3'
(R):5'- TTTGCCCAGGATTTTCCTAAAGCAAATG -3'

Sequencing Primer
(F):5'- gcaggaagaacactcataaaataaac -3'
(R):5'- gggaggcagaggcagag -3'

Posted On

2013-10-16