Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Thoc5'

160787

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

Fmip, PK1.3, 1700060C24Rik, A430085L24Rik

MMRRC Submission

039493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4845339-4878867 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 4861427 bp (GRCm39)

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

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: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dhx32	T	C	7: 133,339,069 (GRCm39)	E322G	possibly damaging	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	probably damaging	Het

Other mutations in Thoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Thoc5	APN	11	4,868,147 (GRCm39)	missense	probably damaging	0.96
IGL02039:Thoc5	APN	11	4,872,027 (GRCm39)	critical splice donor site	probably null
IGL02227:Thoc5	APN	11	4,876,217 (GRCm39)	missense	probably benign	0.02
IGL02970:Thoc5	APN	11	4,854,201 (GRCm39)	missense	probably damaging	0.99
R0398:Thoc5	UTSW	11	4,871,978 (GRCm39)	missense	possibly damaging	0.84
R0401:Thoc5	UTSW	11	4,852,213 (GRCm39)	utr 5 prime	probably benign
R0453:Thoc5	UTSW	11	4,868,217 (GRCm39)	missense	possibly damaging	0.60
R1223:Thoc5	UTSW	11	4,871,922 (GRCm39)	missense	probably benign	0.40
R1661:Thoc5	UTSW	11	4,869,792 (GRCm39)	missense	probably benign	0.04
R1665:Thoc5	UTSW	11	4,869,792 (GRCm39)	missense	probably benign	0.04
R1776:Thoc5	UTSW	11	4,864,517 (GRCm39)	splice site	probably benign
R1830:Thoc5	UTSW	11	4,864,608 (GRCm39)	missense	probably benign	0.02
R1912:Thoc5	UTSW	11	4,865,561 (GRCm39)	missense	probably benign	0.15
R3001:Thoc5	UTSW	11	4,878,688 (GRCm39)	missense	probably benign
R3002:Thoc5	UTSW	11	4,878,688 (GRCm39)	missense	probably benign
R3783:Thoc5	UTSW	11	4,870,372 (GRCm39)	unclassified	probably benign
R4534:Thoc5	UTSW	11	4,874,807 (GRCm39)	nonsense	probably null
R4619:Thoc5	UTSW	11	4,876,218 (GRCm39)	missense	probably damaging	0.96
R4747:Thoc5	UTSW	11	4,854,187 (GRCm39)	missense	probably damaging	0.99
R5106:Thoc5	UTSW	11	4,860,630 (GRCm39)	missense	probably damaging	1.00
R5310:Thoc5	UTSW	11	4,860,648 (GRCm39)	missense	probably damaging	1.00
R5914:Thoc5	UTSW	11	4,870,416 (GRCm39)	missense	possibly damaging	0.58
R5936:Thoc5	UTSW	11	4,854,133 (GRCm39)	missense	probably damaging	1.00
R6167:Thoc5	UTSW	11	4,865,497 (GRCm39)	missense	probably benign	0.12
R6209:Thoc5	UTSW	11	4,855,697 (GRCm39)	missense	probably damaging	1.00
R6243:Thoc5	UTSW	11	4,869,753 (GRCm39)	missense	possibly damaging	0.59
R6504:Thoc5	UTSW	11	4,874,815 (GRCm39)	nonsense	probably null
R6833:Thoc5	UTSW	11	4,869,804 (GRCm39)	missense	probably damaging	1.00
R6874:Thoc5	UTSW	11	4,851,261 (GRCm39)	missense	probably damaging	1.00
R7048:Thoc5	UTSW	11	4,876,237 (GRCm39)	critical splice donor site	probably null
R7197:Thoc5	UTSW	11	4,865,563 (GRCm39)	missense	probably benign	0.01
R7753:Thoc5	UTSW	11	4,852,156 (GRCm39)	missense	probably damaging	0.99
R7828:Thoc5	UTSW	11	4,852,306 (GRCm39)	start gained	probably benign
R8416:Thoc5	UTSW	11	4,876,068 (GRCm39)	missense	probably benign	0.41
R8428:Thoc5	UTSW	11	4,876,115 (GRCm39)	missense	probably damaging	0.99
R8673:Thoc5	UTSW	11	4,876,061 (GRCm39)	missense	possibly damaging	0.52
R8964:Thoc5	UTSW	11	4,860,647 (GRCm39)	missense	possibly damaging	0.80
R9214:Thoc5	UTSW	11	4,864,303 (GRCm39)	missense	probably benign	0.13
R9651:Thoc5	UTSW	11	4,849,883 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AAGGGTTTTGCTCTGCCTGCTC -3'
(R):5'- CCCGGATACCATTTGCCTGACTAC -3'

Sequencing Primer
(F):5'- GCTCAGCTCTCACTTAGCAC -3'
(R):5'- AGCCAACTACTGCTTTATAGCTGG -3'

Posted On

2014-03-14