Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01722:Thrap3'

105151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thrap3

Ensembl Gene

ENSMUSG00000043962

Gene Name

thyroid hormone receptor associated protein 3

Synonyms

9330151F09Rik, B230333E16Rik, Trap150

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

IGL01722

Quality Score

Status

Chromosome

Chromosomal Location

126164082-126202760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126165529 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 908 (M908K)

Ref Sequence

ENSEMBL: ENSMUSP00000079722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000163176]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080919
AA Change: M908K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: M908K

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
low complexity region	77	95	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	123	788	1.9e-207	PFAM
low complexity region	790	801	N/A	INTRINSIC
low complexity region	835	854	N/A	INTRINSIC
low complexity region	892	910	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094760

SMART Domains

Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758

Domain	Start	End	E-Value	Type
SH3	68	125	7.11e-22	SMART
low complexity region	211	221	N/A	INTRINSIC
low complexity region	464	473	N/A	INTRINSIC
coiled coil region	482	510	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097891

SMART Domains

Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758

Domain	Start	End	E-Value	Type
SH3	1	57	4.29e-7	SMART
low complexity region	66	76	N/A	INTRINSIC
SH3	86	141	2.96e-19	SMART
SH3	184	241	7.11e-22	SMART
low complexity region	327	337	N/A	INTRINSIC
low complexity region	580	589	N/A	INTRINSIC
coiled coil region	598	626	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154702

Predicted Effect

probably benign
Transcript: ENSMUST00000163176

Predicted Effect

probably benign
Transcript: ENSMUST00000163459

SMART Domains

Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962

Domain	Start	End	E-Value	Type
Pfam:THRAP3_BCLAF1	1	39	4e-17	PFAM
low complexity region	41	58	N/A	INTRINSIC
low complexity region	59	77	N/A	INTRINSIC
low complexity region	81	92	N/A	INTRINSIC
Pfam:Btz	124	192	3.1e-4	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	T	A	2: 58,283,549		probably benign	Het
Alb	G	A	5: 90,470,839		probably null	Het
Ankrd9	A	G	12: 110,977,363	V46A	probably damaging	Het
Apol11a	A	T	15: 77,517,107	M265L	probably benign	Het
Ccdc158	T	C	5: 92,662,739	N97D	possibly damaging	Het
Cobl	T	G	11: 12,253,987	H823P	probably benign	Het
Dnaja2	A	T	8: 85,553,279	H90Q	probably benign	Het
Dpagt1	T	C	9: 44,327,602	F73S	possibly damaging	Het
Dph3	C	T	14: 32,085,460	E20K	possibly damaging	Het
Fam198a	G	A	9: 121,965,083	S101N	possibly damaging	Het
Fbxl13	G	T	5: 21,490,414	T660K	possibly damaging	Het
Glt6d1	T	C	2: 25,794,419	T192A	probably benign	Het
Mroh7	C	T	4: 106,703,161	V649I	probably benign	Het
Mta3	T	C	17: 83,755,643	Y4H	possibly damaging	Het
Myh14	A	G	7: 44,643,532	L369P	probably damaging	Het
Olfr1263	T	C	2: 90,015,007	C26R	probably benign	Het
Olfr1385	G	T	11: 49,494,966	L144F	probably damaging	Het
Paxx	T	C	2: 25,460,265	D110G	probably damaging	Het
Pcyox1	T	G	6: 86,388,753	D493A	probably damaging	Het
Plk2	A	G	13: 110,399,442	E560G	probably benign	Het
Rnf6	A	G	5: 146,210,226	F661L	probably benign	Het
Sema4a	T	C	3: 88,438,184	K531E	probably benign	Het
Svs2	T	C	2: 164,237,526	K154E	possibly damaging	Het
Tbx4	A	T	11: 85,911,943	Q242L	probably damaging	Het
Tgm3	A	T	2: 130,044,568	I570F	probably damaging	Het
Trmo	A	G	4: 46,386,092		probably null	Het
Usp8	T	A	2: 126,758,152	L997Q	probably damaging	Het
Vmn1r202	T	C	13: 22,501,720	R176G	probably benign	Het
Vps52	T	A	17: 33,961,615	Y308*	probably null	Het

Other mutations in Thrap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Thrap3	APN	4	126165578	missense	probably benign	0.01
IGL00654:Thrap3	APN	4	126165578	missense	probably benign	0.01
IGL00763:Thrap3	APN	4	126165578	missense	probably benign	0.01
IGL00907:Thrap3	APN	4	126165578	missense	probably benign	0.01
IGL00990:Thrap3	APN	4	126165395	unclassified	probably benign
IGL02487:Thrap3	APN	4	126167001	missense	possibly damaging	0.93
IGL02802:Thrap3	UTSW	4	126165364	unclassified	probably benign
IGL02837:Thrap3	UTSW	4	126165364	unclassified	probably benign
IGL02988:Thrap3	UTSW	4	126165542	splice site	probably null
IGL03050:Thrap3	UTSW	4	126165542	splice site	probably null
IGL03055:Thrap3	UTSW	4	126165542	splice site	probably null
R0585:Thrap3	UTSW	4	126178574	unclassified	probably null
R1023:Thrap3	UTSW	4	126180089	missense	possibly damaging	0.73
R1237:Thrap3	UTSW	4	126180069	missense	probably benign	0.02
R1445:Thrap3	UTSW	4	126176336	missense	probably damaging	1.00
R1601:Thrap3	UTSW	4	126180101	missense	probably damaging	1.00
R2058:Thrap3	UTSW	4	126180174	missense	probably damaging	1.00
R2063:Thrap3	UTSW	4	126175396	missense	possibly damaging	0.57
R2064:Thrap3	UTSW	4	126175396	missense	possibly damaging	0.57
R2065:Thrap3	UTSW	4	126175396	missense	possibly damaging	0.57
R2066:Thrap3	UTSW	4	126175396	missense	possibly damaging	0.57
R2067:Thrap3	UTSW	4	126175396	missense	possibly damaging	0.57
R2098:Thrap3	UTSW	4	126180030	missense	probably damaging	1.00
R3791:Thrap3	UTSW	4	126167500	missense	possibly damaging	0.76
R4052:Thrap3	UTSW	4	126176219	missense	probably damaging	1.00
R4097:Thrap3	UTSW	4	126171802	missense	probably damaging	1.00
R4153:Thrap3	UTSW	4	126173442	critical splice donor site	probably null
R4399:Thrap3	UTSW	4	126167079	splice site	probably benign
R5265:Thrap3	UTSW	4	126167640	missense	probably damaging	1.00
R5687:Thrap3	UTSW	4	126180486	unclassified	probably benign
R5993:Thrap3	UTSW	4	126175460	unclassified	probably null
R6305:Thrap3	UTSW	4	126180807	unclassified	probably benign
R6917:Thrap3	UTSW	4	126180492	unclassified	probably benign

Posted On

2014-01-21