Mutagenetix > Incidental Mutation

Incidental Mutation 'R2257:Thoc1'

243486

Institutional Source

Beutler Lab

Gene Symbol

Thoc1

Ensembl Gene

ENSMUSG00000024287

Gene Name

THO complex 1

Synonyms

NMP-84, 3110002N20Rik

MMRRC Submission

040257-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9958176-9995486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 9993466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 608 (D608E)

Ref Sequence

ENSEMBL: ENSMUSP00000025137 (fasta)

Gene Model

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

AlphaFold

Q8R3N6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025137
AA Change: D608E

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: D608E

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	A	T	X: 69,438,012 (GRCm39)	W94R	probably damaging	Het
Abcc3	C	T	11: 94,254,420 (GRCm39)	V693M	probably damaging	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Ap1s1	T	C	5: 137,070,633 (GRCm39)	Y94C	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Cabs1	T	C	5: 88,128,074 (GRCm39)	S242P	probably damaging	Het
Cass4	T	C	2: 172,269,390 (GRCm39)	F493L	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cfap100	C	G	6: 90,390,802 (GRCm39)	R184P	possibly damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Dhx36	C	T	3: 62,385,064 (GRCm39)	G683S	probably damaging	Het
Dnaaf11	T	A	15: 66,309,436 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,838,301 (GRCm39)	I1110N	probably damaging	Het
Dnajc3	C	G	14: 119,210,114 (GRCm39)	P322A	probably benign	Het
Eml4	A	G	17: 83,785,189 (GRCm39)	T785A	probably damaging	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fcrl2	T	C	3: 87,166,928 (GRCm39)	I22V	probably damaging	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Grm8	A	T	6: 27,760,224 (GRCm39)	C369S	probably damaging	Het
Hdc	G	A	2: 126,458,000 (GRCm39)		probably null	Het
Hsf3	A	T	X: 95,363,928 (GRCm39)	L191*	probably null	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Kif4	A	T	X: 99,769,737 (GRCm39)	N1126Y	probably benign	Het
Lat2	T	C	5: 134,631,481 (GRCm39)	D191G	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Lmo7	T	C	14: 102,137,566 (GRCm39)	L634P	probably damaging	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mgat4a	T	C	1: 37,529,394 (GRCm39)	N24D	probably benign	Het
Mical3	A	T	6: 121,010,696 (GRCm39)	S429T	possibly damaging	Het
Mrps35	A	G	6: 146,972,125 (GRCm39)	E256G	possibly damaging	Het
Mybbp1a	T	A	11: 72,337,021 (GRCm39)	S586T	probably benign	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nob1	A	G	8: 108,143,729 (GRCm39)		probably benign	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or7g27	A	G	9: 19,249,789 (GRCm39)	E11G	probably benign	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Pias3	C	T	3: 96,606,962 (GRCm39)	T75I	probably benign	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Prrc2a	G	A	17: 35,380,044 (GRCm39)	P185L	unknown	Het
Prss57	C	T	10: 79,623,204 (GRCm39)	C81Y	probably damaging	Het
Psen1	C	T	12: 83,761,594 (GRCm39)	S132L	probably damaging	Het
Ranbp6	A	G	19: 29,788,949 (GRCm39)	S468P	possibly damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmprss7	A	T	16: 45,506,696 (GRCm39)	M122K	possibly damaging	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Uap1	A	T	1: 169,986,312 (GRCm39)		probably benign	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps13a	G	A	19: 16,659,538 (GRCm39)	T1663I	possibly damaging	Het
Vps13c	A	C	9: 67,860,228 (GRCm39)	I2815L	possibly damaging	Het
Zc3h3	G	T	15: 75,711,415 (GRCm39)	Q349K	possibly 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
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'- CCAGTGGTCATTTCAGCTTTGC -3'
(R):5'- GAACCTTTTATCAAATGCTGCTTGG -3'

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

Posted On

2014-10-16