Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00907:Thrap3'

278062

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?

Probably essential (E-score: 0.932) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

126164082-126202760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126165578 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 892 (G892S)

Ref Sequence

ENSEMBL: ENSMUSP00000079722 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080919
AA Change: G892S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: G892S

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

unknown
Transcript: ENSMUST00000163459
AA Change: G182S

SMART Domains

Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: G182S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,561,705	D502G	possibly damaging	Het
Brwd3	A	G	X: 108,784,246		probably benign	Het
Ccdc171	T	A	4: 83,864,249	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435	I1401T	probably damaging	Het
Csf1	T	C	3: 107,750,346	N76S	probably damaging	Het
Dld	A	G	12: 31,332,330		probably benign	Het
Eif5	T	A	12: 111,540,555	I141N	probably damaging	Het
Etl4	G	A	2: 20,766,478	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,213,526	R550W	probably damaging	Het
Hipk2	A	G	6: 38,818,273	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hsd17b2	A	T	8: 117,734,694	I157L	probably benign	Het
Ibtk	A	G	9: 85,690,331	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,427,448		probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Kir3dl1	G	A	X: 136,525,162	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,144,651	V383A	probably benign	Het
Mael	A	G	1: 166,204,849	Y314H	probably damaging	Het
Npat	T	C	9: 53,563,290	V794A	possibly damaging	Het
Nr4a2	T	A	2: 57,109,217	I340F	probably damaging	Het
Olfr1195	A	G	2: 88,683,294	V146A	probably benign	Het
Olfr477	A	T	7: 107,990,890	D175V	probably damaging	Het
Olfr836	T	A	9: 19,121,232	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,107,564	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667	T264I	probably benign	Het
Sars2	G	T	7: 28,753,423		probably benign	Het
Scn1a	A	C	2: 66,327,797	S411A	probably damaging	Het
Srsf5	T	C	12: 80,947,834	V112A	probably damaging	Het
Susd2	T	C	10: 75,640,931	N206S	probably benign	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	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
IGL00990:Thrap3	APN	4	126165395	unclassified	probably benign
IGL01722:Thrap3	APN	4	126165529	missense	possibly damaging	0.87
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	splice site	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	splice site	probably null
R6305:Thrap3	UTSW	4	126180807	unclassified	probably benign
R6917:Thrap3	UTSW	4	126180492	unclassified	probably benign
R7124:Thrap3	UTSW	4	126180438	missense	unknown
R7167:Thrap3	UTSW	4	126185127	intron	probably benign
R7227:Thrap3	UTSW	4	126173503	missense	probably damaging	1.00
R7343:Thrap3	UTSW	4	126178430	missense	probably damaging	0.98
R7695:Thrap3	UTSW	4	126180098	missense	probably damaging	1.00
R7889:Thrap3	UTSW	4	126178062	missense	probably benign	0.37
R7917:Thrap3	UTSW	4	126175420	missense	probably damaging	1.00
R8109:Thrap3	UTSW	4	126186480	missense	unknown

Posted On

2015-04-16