Mutagenetix > Incidental Mutations

Incidental Mutation 'R3783:Thoc5'

272126

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

1700060C24Rik, PK1.3, A430085L24Rik, Fmip

MMRRC Submission

040875-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4895320-4928867 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 4920372 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118940 (fasta)

Gene Model

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

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: ENSMUST00000155872

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap6	A	G	12: 52,880,769	H154R	probably damaging	Het
Aoc1	T	C	6: 48,905,655	L177P	probably damaging	Het
Ascc3	A	G	10: 50,728,254	T1357A	probably damaging	Het
Atp13a3	A	T	16: 30,354,249	V270D	probably damaging	Het
BC055324	A	T	1: 163,987,683	C90S	probably benign	Het
Carmil3	T	C	14: 55,496,976	F418S	probably damaging	Het
Ccdc93	A	G	1: 121,437,869	N77S	probably damaging	Het
Cpt1b	T	C	15: 89,425,189	K47R	probably damaging	Het
Cyp4f14	A	G	17: 32,916,762	Y42H	probably benign	Het
Dmxl1	G	A	18: 49,865,122	S763N	probably damaging	Het
Fam129a	C	T	1: 151,689,648	S243L	possibly damaging	Het
Fancd2	T	G	6: 113,565,204	S770A	probably damaging	Het
Flnb	T	G	14: 7,889,236	W529G	probably benign	Het
Fryl	T	C	5: 73,101,476	Y655C	probably benign	Het
Gml	C	T	15: 74,813,672	V155M	probably damaging	Het
Gpr174	A	G	X: 107,293,064	T161A	probably benign	Het
Heatr1	G	T	13: 12,434,460	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,647,686	L461P	probably damaging	Het
Isy1	T	C	6: 87,821,545	E209G	possibly damaging	Het
Kdm5b	A	G	1: 134,630,542	H1429R	probably benign	Het
Magi2	C	T	5: 20,465,909	T580M	probably damaging	Het
Map3k1	C	T	13: 111,756,220	V834I	probably benign	Het
Mdn1	A	T	4: 32,720,818	E2310D	probably benign	Het
Myo15	A	T	11: 60,477,572	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,454,595	N148I	probably damaging	Het
Nsa2	G	T	13: 97,135,534	Q60K	possibly damaging	Het
Pcdha1	T	A	18: 36,930,802	L173Q	probably damaging	Het
Pdpk1	T	C	17: 24,110,850	T71A	possibly damaging	Het
Plxna2	T	A	1: 194,807,521	V1692E	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Psg27	T	A	7: 18,560,354	Q376L	probably damaging	Het
Psmd4	T	C	3: 95,035,251	D6G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rala	T	A	13: 17,882,446	E185V	probably benign	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Scn10a	T	C	9: 119,691,562	T91A	probably damaging	Het
Synrg	T	C	11: 84,001,920	F613S	probably damaging	Het
Tekt1	A	G	11: 72,344,894	I376T	probably damaging	Het
Tet2	T	C	3: 133,479,363	K1182R	possibly damaging	Het
Thbs4	T	C	13: 92,773,164	N375S	probably benign	Het
Tmprss9	G	T	10: 80,887,467	V254F	probably damaging	Het
Tro	G	A	X: 150,655,052	T203I	possibly damaging	Het
Ttbk2	A	T	2: 120,773,815		probably benign	Het
Usf2	A	G	7: 30,955,831	V133A	probably benign	Het
Wap	G	A	11: 6,638,550	Q25*	probably null	Het
Xdh	C	T	17: 73,893,595		probably benign	Het
Xrn1	G	T	9: 95,969,285	M153I	probably benign	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
R4534:Thoc5	UTSW	11	4924807	nonsense	probably null
R4619:Thoc5	UTSW	11	4926218	missense	probably damaging	0.96
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
R8416:Thoc5	UTSW	11	4926068	missense	probably benign	0.41
R8428:Thoc5	UTSW	11	4926115	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTTTTCTTAGAAGCTGGCC -3'
(R):5'- ACAAGTTCTGAGGAAAAGGTTTCTG -3'

Sequencing Primer
(F):5'- TGGCCACAGATTCATGGGAAC -3'
(R):5'- CTGAGGAAAAGGTTTCTGTTTGTATG -3'

Posted On

2015-03-25