Mutagenetix > Incidental Mutations

Incidental Mutation 'R4619:Thoc5'

345184

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

1700060C24Rik, PK1.3, A430085L24Rik, Fmip

MMRRC Submission

041885-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4895320-4928867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4926218 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 609 (M609K)

Ref Sequence

ENSEMBL: ENSMUSP00000099137 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038237
AA Change: M657K

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: M657K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101615
AA Change: M609K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: M609K

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

Meta Mutation Damage Score

0.6548

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,069,759	V1570I	probably damaging	Het
Alx4	A	G	2: 93,642,761	R35G	probably damaging	Het
Apod	T	C	16: 31,297,393	D173G	probably benign	Het
Atp8b3	G	A	10: 80,526,024	T731I	possibly damaging	Het
Birc6	A	C	17: 74,640,150	T2955P	probably benign	Het
Cdh15	G	A	8: 122,860,873	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,410,268	V1282L	probably benign	Het
Crocc2	G	A	1: 93,213,650	R1175H	probably benign	Het
Dbh	A	G	2: 27,174,824	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,638,844	I2372V	probably benign	Het
Fam196a	A	G	7: 134,918,541	Y87H	probably damaging	Het
Fer1l4	A	T	2: 156,047,087	W389R	probably damaging	Het
Fndc1	T	C	17: 7,765,204	T1297A	unknown	Het
Gart	T	C	16: 91,625,433	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,423,098	I463V	probably benign	Het
Gm5591	G	A	7: 38,520,648	S267L	probably benign	Het
Gzmk	A	G	13: 113,173,123	V92A	probably damaging	Het
Hspg2	C	T	4: 137,546,573	R2680W	probably damaging	Het
Kcnh3	G	A	15: 99,234,101	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,706,435	I230L	probably benign	Het
Kif3b	C	T	2: 153,316,674	R132*	probably null	Het
Klra5	T	C	6: 129,908,813	S128G	probably benign	Het
Krba1	C	T	6: 48,406,348	R4*	probably null	Het
Krt2	T	A	15: 101,817,591	I171F	probably damaging	Het
Lss	A	G	10: 76,536,255	D148G	probably benign	Het
Mavs	G	T	2: 131,240,450	A85S	probably damaging	Het
Mipep	T	C	14: 60,903,416	C566R	probably damaging	Het
Myocd	T	A	11: 65,178,428		probably benign	Het
Ndufa9	C	T	6: 126,827,535		probably null	Het
Nolc1	G	A	19: 46,083,520	G583D	probably damaging	Het
Nucb2	T	C	7: 116,527,824		probably null	Het
Olfr1357	T	C	10: 78,612,575	D22G	probably benign	Het
Olfr487	A	T	7: 108,212,094	I145N	possibly damaging	Het
Olfr596	C	T	7: 103,309,958	T79I	probably benign	Het
Pank4	C	A	4: 154,976,619	D508E	probably benign	Het
Phb	T	A	11: 95,671,590		probably benign	Het
Pign	T	A	1: 105,521,990		probably benign	Het
Plec	T	C	15: 76,192,182	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,734,343	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,716,111	V130D	probably damaging	Het
Senp3	T	A	11: 69,677,118	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,217,290	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,886,730	K101*	probably null	Het
Snph	G	A	2: 151,594,514	Q96*	probably null	Het
Sptb	A	T	12: 76,583,807	C2244*	probably null	Het
Srbd1	A	T	17: 86,109,265	F488L	probably benign	Het
Ssc5d	A	T	7: 4,929,525	H396L	probably damaging	Het
Sulf1	A	C	1: 12,786,652	R42S	probably damaging	Het
Taf1a	T	A	1: 183,400,598		probably benign	Het
Tiam2	A	T	17: 3,518,342	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,043,286	V402I	probably damaging	Het
Tmprss15	T	C	16: 79,021,470	D524G	probably damaging	Het
Trbv31	T	C	6: 41,557,967	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,847,471	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,847,476	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,688,609	S118T	probably benign	Het
Wnt9b	G	A	11: 103,731,123	T236I	probably benign	Het
Zbtb21	T	C	16: 97,949,892	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,524	T52I	probably benign	Het
Zfp558	T	A	9: 18,456,281	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,711,205	D325V	probably damaging	Het
Zhx3	A	T	2: 160,781,959	M96K	probably damaging	Het

Other mutations in Thoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Thoc5	APN	11	4918147	missense	probably damaging	0.96
IGL02039:Thoc5	APN	11	4922027	critical splice donor site	probably null
IGL02227:Thoc5	APN	11	4926217	missense	probably benign	0.02
IGL02970:Thoc5	APN	11	4904201	missense	probably damaging	0.99
R0398:Thoc5	UTSW	11	4921978	missense	possibly damaging	0.84
R0401:Thoc5	UTSW	11	4902213	utr 5 prime	probably benign
R0453:Thoc5	UTSW	11	4918217	missense	possibly damaging	0.60
R1223:Thoc5	UTSW	11	4921922	missense	probably benign	0.40
R1438:Thoc5	UTSW	11	4911427	splice site	probably benign
R1661:Thoc5	UTSW	11	4919792	missense	probably benign	0.04
R1665:Thoc5	UTSW	11	4919792	missense	probably benign	0.04
R1776:Thoc5	UTSW	11	4914517	splice site	probably benign
R1830:Thoc5	UTSW	11	4914608	missense	probably benign	0.02
R1912:Thoc5	UTSW	11	4915561	missense	probably benign	0.15
R3001:Thoc5	UTSW	11	4928688	missense	probably benign
R3002:Thoc5	UTSW	11	4928688	missense	probably benign
R3783:Thoc5	UTSW	11	4920372	unclassified	probably benign
R4534:Thoc5	UTSW	11	4924807	nonsense	probably null
R4747:Thoc5	UTSW	11	4904187	missense	probably damaging	0.99
R5106:Thoc5	UTSW	11	4910630	missense	probably damaging	1.00
R5310:Thoc5	UTSW	11	4910648	missense	probably damaging	1.00
R5914:Thoc5	UTSW	11	4920416	missense	possibly damaging	0.58
R5936:Thoc5	UTSW	11	4904133	missense	probably damaging	1.00
R6167:Thoc5	UTSW	11	4915497	missense	probably benign	0.12
R6209:Thoc5	UTSW	11	4905697	missense	probably damaging	1.00
R6243:Thoc5	UTSW	11	4919753	missense	possibly damaging	0.59
R6504:Thoc5	UTSW	11	4924815	nonsense	probably null
R6833:Thoc5	UTSW	11	4919804	missense	probably damaging	1.00
R6874:Thoc5	UTSW	11	4901261	missense	probably damaging	1.00
R7048:Thoc5	UTSW	11	4926237	critical splice donor site	probably null
R7197:Thoc5	UTSW	11	4915563	missense	probably benign	0.01
R7753:Thoc5	UTSW	11	4902156	missense	probably damaging	0.99
R7828:Thoc5	UTSW	11	4902306	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAAGTGCTCGGCCATACTGC -3'
(R):5'- TCCTGGAAATCTGGCTGCAG -3'

Sequencing Primer
(F):5'- CAAATGCTGAGGGTCTGGC -3'
(R):5'- CCTGGAAATCTGGCTGCAGAATTG -3'

Posted On

2015-09-25