Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00790:Thoc5'

14456

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

1700060C24Rik, PK1.3, A430085L24Rik, Fmip

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00790

Quality Score

Status

Chromosome

Chromosomal Location

4895320-4928867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4918147 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 275 (V275G)

Ref Sequence

ENSEMBL: ENSMUSP00000118940 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038237
AA Change: V400G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: V400G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101615
AA Change: V352G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: V352G

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 damaging
Transcript: ENSMUST00000142543
AA Change: V275G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274
AA Change: V275G

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

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	G	17: 33,067,387	V147A	probably damaging	Het
AC139131.1	T	G	7: 12,494,232	M702R	probably damaging	Het
Ankrd12	A	T	17: 65,984,180	N1419K	probably benign	Het
Arhgef18	A	G	8: 3,429,553	E79G	probably damaging	Het
Art4	T	A	6: 136,854,495	Q216L	probably damaging	Het
Bbs4	T	C	9: 59,324,065	D407G	probably benign	Het
Cherp	A	G	8: 72,468,246	I277T	probably damaging	Het
Cnot2	A	G	10: 116,507,071	M119T	probably benign	Het
Disp2	T	A	2: 118,786,278	C73S	probably damaging	Het
Dock4	T	C	12: 40,834,391	S1686P	probably damaging	Het
Dsc1	C	T	18: 20,094,896	G468S	probably damaging	Het
Duox2	T	A	2: 122,292,300	D551V	possibly damaging	Het
Gmip	T	A	8: 69,817,011	Y585*	probably null	Het
Gnal	A	G	18: 67,134,289		probably null	Het
Idh1	T	G	1: 65,166,122	Q228P	possibly damaging	Het
Igsf10	A	T	3: 59,319,517	I2245N	probably damaging	Het
Mrgpra4	A	T	7: 47,981,304	M183K	possibly damaging	Het
Npr2	T	A	4: 43,641,612	V472D	possibly damaging	Het
Pcdh7	A	T	5: 57,721,464	N787I	probably damaging	Het
Ppp1r10	A	T	17: 35,924,859	N111I	probably damaging	Het
Ppp3ca	A	G	3: 136,935,181	N508D	probably benign	Het
Rgs17	A	G	10: 5,862,624	Q25P	possibly damaging	Het
Slco6d1	T	A	1: 98,421,200		probably benign	Het
Tab3	T	A	X: 85,621,604	N591K	probably damaging	Het
Tfcp2	T	C	15: 100,513,178		probably benign	Het
Them5	A	T	3: 94,343,409	D93V	probably damaging	Het
Trmt1l	T	C	1: 151,442,712		probably null	Het
Zdbf2	G	T	1: 63,306,514	V1351F	possibly damaging	Het
Zfp14	G	T	7: 30,038,887	Y224*	probably null	Het

Other mutations in Thoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06