Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Thoc5'

197044

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

1700060C24Rik, PK1.3, A430085L24Rik, Fmip

MMRRC Submission

039807-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4895320-4928867 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4914517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000101615] [ENSMUST00000142543]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038237

SMART Domains

Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274

Domain	Start	End	E-Value	Type
Pfam:FimP	97	452	1.1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101615

SMART Domains

Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274

Domain	Start	End	E-Value	Type
low complexity region	34	41	N/A	INTRINSIC
Pfam:FimP	48	405	7.5e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121125

Predicted Effect

probably benign
Transcript: ENSMUST00000142543

SMART Domains

Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274

Domain	Start	End	E-Value	Type
Pfam:FimP	1	301	1.3e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155872

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,875,228 (GRCm38)		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,574,755 (GRCm38)		probably benign	Het
A2m	C	G	6: 121,641,424 (GRCm38)	F225L	probably damaging	Het
Adamts19	T	A	18: 58,954,620 (GRCm38)	I574N	probably damaging	Het
AI314180	A	G	4: 58,879,100 (GRCm38)	I63T	probably damaging	Het
Ankfn1	T	C	11: 89,526,474 (GRCm38)	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,647,308 (GRCm38)	N1804K	probably benign	Het
Ankle1	G	T	8: 71,409,274 (GRCm38)	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,343,139 (GRCm38)	V24A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm38)	S149R	probably damaging	Het
Cass4	A	T	2: 172,427,695 (GRCm38)	I568L	probably benign	Het
Cd84	A	G	1: 171,872,750 (GRCm38)	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,036,014 (GRCm38)	A36V	probably benign	Het
Cep57	A	T	9: 13,818,874 (GRCm38)	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,813,920 (GRCm38)	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,415,189 (GRCm38)		probably benign	Het
Crabp2	C	A	3: 87,952,994 (GRCm38)	T125K	probably benign	Het
Dennd3	A	G	15: 73,555,101 (GRCm38)	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,785,093 (GRCm38)		probably benign	Het
Dsp	T	A	13: 38,196,617 (GRCm38)	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,632,928 (GRCm38)		probably benign	Het
Fbn1	A	C	2: 125,321,734 (GRCm38)	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,295,386 (GRCm38)		probably null	Het
Gm3604	C	A	13: 62,370,074 (GRCm38)	G157*	probably null	Het
Gm5250	A	G	1: 13,062,340 (GRCm38)		noncoding transcript	Het
Gpam	A	G	19: 55,078,575 (GRCm38)	S503P	possibly damaging	Het
Herc4	T	A	10: 63,264,171 (GRCm38)	C124*	probably null	Het
Ift27	T	C	15: 78,165,981 (GRCm38)	D76G	probably null	Het
Igdcc3	C	T	9: 65,182,752 (GRCm38)	Q550*	probably null	Het
Igsf6	T	A	7: 121,068,299 (GRCm38)	I165F	probably damaging	Het
Il31ra	T	C	13: 112,541,239 (GRCm38)	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,452,605 (GRCm38)	D247N	probably benign	Het
Kcnq2	T	A	2: 181,100,557 (GRCm38)	T394S	probably benign	Het
Mia2	A	G	12: 59,149,575 (GRCm38)		probably benign	Het
Mvp	T	C	7: 126,992,761 (GRCm38)	Q419R	probably benign	Het
Mylk	A	G	16: 34,952,782 (GRCm38)	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267 (GRCm38)	Y54H	probably damaging	Het
Nlk	T	A	11: 78,587,027 (GRCm38)	M297L	probably benign	Het
Nsl1	G	T	1: 191,063,188 (GRCm38)	M50I	probably benign	Het
Numa1	A	G	7: 102,011,050 (GRCm38)	T441A	probably damaging	Het
Ofd1	A	G	X: 166,406,006 (GRCm38)	Y755H	probably benign	Het
Olfr810	C	T	10: 129,791,131 (GRCm38)	V153I	probably benign	Het
Olfr870	G	A	9: 20,170,809 (GRCm38)	T254I	probably benign	Het
Olfr934	G	A	9: 38,982,894 (GRCm38)	S50F	probably damaging	Het
Ovgp1	A	T	3: 105,977,798 (GRCm38)	H151L	possibly damaging	Het
Pigz	G	A	16: 31,944,579 (GRCm38)	E152K	probably damaging	Het
Plxna1	A	T	6: 89,335,464 (GRCm38)	D779E	probably benign	Het
Ppil4	A	T	10: 7,810,437 (GRCm38)	E353V	probably benign	Het
Ptprq	C	T	10: 107,685,089 (GRCm38)	G741S	probably damaging	Het
Rplp0	T	C	5: 115,562,465 (GRCm38)	Y231H	probably benign	Het
Rps24	A	G	14: 24,491,762 (GRCm38)	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,579,050 (GRCm38)	E117G	probably damaging	Het
Ryr2	A	C	13: 11,745,176 (GRCm38)		probably null	Het
Ryr3	A	T	2: 112,957,253 (GRCm38)	M198K	probably damaging	Het
Sdhd	T	C	9: 50,597,200 (GRCm38)	K122R	probably benign	Het
Senp2	T	C	16: 22,043,060 (GRCm38)		probably benign	Het
Setd3	C	A	12: 108,165,161 (GRCm38)	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,267,945 (GRCm38)		probably benign	Het
She	T	A	3: 89,832,038 (GRCm38)	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,176,289 (GRCm38)	T331I	probably benign	Het
Slc45a3	T	C	1: 131,976,956 (GRCm38)	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,629,287 (GRCm38)	S697P	probably benign	Het
Soat1	C	T	1: 156,442,421 (GRCm38)	V143I	probably benign	Het
Sp8	T	A	12: 118,849,567 (GRCm38)	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,716,567 (GRCm38)	T510A	probably benign	Het
Srgap2	T	A	1: 131,411,850 (GRCm38)	I125F	probably damaging	Het
Stab2	T	A	10: 86,957,816 (GRCm38)	I472F	possibly damaging	Het
Taar7f	C	T	10: 24,049,648 (GRCm38)	R47C	probably benign	Het
Tbc1d19	T	A	5: 53,889,311 (GRCm38)		probably null	Het
Tbc1d21	T	A	9: 58,366,728 (GRCm38)		probably benign	Het
Tcaf1	A	G	6: 42,678,455 (GRCm38)	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,174,967 (GRCm38)	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,709,397 (GRCm38)	T385A	probably damaging	Het
Tgm2	T	C	2: 158,131,459 (GRCm38)	N244S	probably benign	Het
Tmc2	A	T	2: 130,234,869 (GRCm38)	I372F	probably damaging	Het
Tnrc6a	A	G	7: 123,171,297 (GRCm38)	D222G	probably damaging	Het
Trhde	T	G	10: 114,800,603 (GRCm38)	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475 (GRCm38)	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,639,040 (GRCm38)	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm38)	N38S	probably benign	Het
Ush2a	A	G	1: 188,728,203 (GRCm38)	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,479,316 (GRCm38)	D513G	probably damaging	Het
Vip	T	C	10: 5,644,992 (GRCm38)		probably null	Het
Vmn1r4	A	G	6: 56,957,038 (GRCm38)	I176V	probably benign	Het
Zfp804b	T	C	5: 6,769,806 (GRCm38)	T1050A	probably damaging	Het

Other mutations in Thoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Thoc5	APN	11	4,918,147 (GRCm38)	missense	probably damaging	0.96
IGL02039:Thoc5	APN	11	4,922,027 (GRCm38)	critical splice donor site	probably null
IGL02227:Thoc5	APN	11	4,926,217 (GRCm38)	missense	probably benign	0.02
IGL02970:Thoc5	APN	11	4,904,201 (GRCm38)	missense	probably damaging	0.99
R0398:Thoc5	UTSW	11	4,921,978 (GRCm38)	missense	possibly damaging	0.84
R0401:Thoc5	UTSW	11	4,902,213 (GRCm38)	utr 5 prime	probably benign
R0453:Thoc5	UTSW	11	4,918,217 (GRCm38)	missense	possibly damaging	0.60
R1223:Thoc5	UTSW	11	4,921,922 (GRCm38)	missense	probably benign	0.40
R1438:Thoc5	UTSW	11	4,911,427 (GRCm38)	splice site	probably benign
R1661:Thoc5	UTSW	11	4,919,792 (GRCm38)	missense	probably benign	0.04
R1665:Thoc5	UTSW	11	4,919,792 (GRCm38)	missense	probably benign	0.04
R1830:Thoc5	UTSW	11	4,914,608 (GRCm38)	missense	probably benign	0.02
R1912:Thoc5	UTSW	11	4,915,561 (GRCm38)	missense	probably benign	0.15
R3001:Thoc5	UTSW	11	4,928,688 (GRCm38)	missense	probably benign
R3002:Thoc5	UTSW	11	4,928,688 (GRCm38)	missense	probably benign
R3783:Thoc5	UTSW	11	4,920,372 (GRCm38)	unclassified	probably benign
R4534:Thoc5	UTSW	11	4,924,807 (GRCm38)	nonsense	probably null
R4619:Thoc5	UTSW	11	4,926,218 (GRCm38)	missense	probably damaging	0.96
R4747:Thoc5	UTSW	11	4,904,187 (GRCm38)	missense	probably damaging	0.99
R5106:Thoc5	UTSW	11	4,910,630 (GRCm38)	missense	probably damaging	1.00
R5310:Thoc5	UTSW	11	4,910,648 (GRCm38)	missense	probably damaging	1.00
R5914:Thoc5	UTSW	11	4,920,416 (GRCm38)	missense	possibly damaging	0.58
R5936:Thoc5	UTSW	11	4,904,133 (GRCm38)	missense	probably damaging	1.00
R6167:Thoc5	UTSW	11	4,915,497 (GRCm38)	missense	probably benign	0.12
R6209:Thoc5	UTSW	11	4,905,697 (GRCm38)	missense	probably damaging	1.00
R6243:Thoc5	UTSW	11	4,919,753 (GRCm38)	missense	possibly damaging	0.59
R6504:Thoc5	UTSW	11	4,924,815 (GRCm38)	nonsense	probably null
R6833:Thoc5	UTSW	11	4,919,804 (GRCm38)	missense	probably damaging	1.00
R6874:Thoc5	UTSW	11	4,901,261 (GRCm38)	missense	probably damaging	1.00
R7048:Thoc5	UTSW	11	4,926,237 (GRCm38)	critical splice donor site	probably null
R7197:Thoc5	UTSW	11	4,915,563 (GRCm38)	missense	probably benign	0.01
R7753:Thoc5	UTSW	11	4,902,156 (GRCm38)	missense	probably damaging	0.99
R7828:Thoc5	UTSW	11	4,902,306 (GRCm38)	start gained	probably benign
R8416:Thoc5	UTSW	11	4,926,068 (GRCm38)	missense	probably benign	0.41
R8428:Thoc5	UTSW	11	4,926,115 (GRCm38)	missense	probably damaging	0.99
R8673:Thoc5	UTSW	11	4,926,061 (GRCm38)	missense	possibly damaging	0.52
R8964:Thoc5	UTSW	11	4,910,647 (GRCm38)	missense	possibly damaging	0.80
R9214:Thoc5	UTSW	11	4,914,303 (GRCm38)	missense	probably benign	0.13
R9651:Thoc5	UTSW	11	4,899,883 (GRCm38)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAGATGATGAGAGCGACTCAGATGC -3'
(R):5'- AGCTTTGTACCAACAACTGACCAGG -3'

Sequencing Primer
(F):5'- TGGGAATATTATGCAGCCATGC -3'
(R):5'- CTGACCAGGCTCTTAGGTACTATG -3'

Posted On

2014-05-23