Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Thrap3'

392078

Institutional Source

Beutler Lab

Gene Symbol

Thrap3

Ensembl Gene

ENSMUSG00000043962

Gene Name

thyroid hormone receptor associated protein 3

Synonyms

B230333E16Rik, Trap150, 9330151F09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL02802 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126057875-126096548 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 126059157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q569Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000080919

SMART Domains

Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962

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

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Thrap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00639:Thrap3	APN	4	126,059,371 (GRCm39)	missense	probably benign	0.01
IGL00654:Thrap3	APN	4	126,059,371 (GRCm39)	missense	probably benign	0.01
IGL00763:Thrap3	APN	4	126,059,371 (GRCm39)	missense	probably benign	0.01
IGL00907:Thrap3	APN	4	126,059,371 (GRCm39)	missense	probably benign	0.01
IGL00990:Thrap3	APN	4	126,059,188 (GRCm39)	unclassified	probably benign
IGL01722:Thrap3	APN	4	126,059,322 (GRCm39)	missense	possibly damaging	0.87
IGL02487:Thrap3	APN	4	126,060,794 (GRCm39)	missense	possibly damaging	0.93
IGL02837:Thrap3	UTSW	4	126,059,157 (GRCm39)	unclassified	probably benign
IGL02988:Thrap3	UTSW	4	126,059,335 (GRCm39)	splice site	probably null
IGL03050:Thrap3	UTSW	4	126,059,335 (GRCm39)	splice site	probably null
IGL03055:Thrap3	UTSW	4	126,059,335 (GRCm39)	splice site	probably null
R0585:Thrap3	UTSW	4	126,072,367 (GRCm39)	splice site	probably null
R1023:Thrap3	UTSW	4	126,073,882 (GRCm39)	missense	possibly damaging	0.73
R1237:Thrap3	UTSW	4	126,073,862 (GRCm39)	missense	probably benign	0.02
R1445:Thrap3	UTSW	4	126,070,129 (GRCm39)	missense	probably damaging	1.00
R1601:Thrap3	UTSW	4	126,073,894 (GRCm39)	missense	probably damaging	1.00
R2058:Thrap3	UTSW	4	126,073,967 (GRCm39)	missense	probably damaging	1.00
R2063:Thrap3	UTSW	4	126,069,189 (GRCm39)	missense	possibly damaging	0.57
R2064:Thrap3	UTSW	4	126,069,189 (GRCm39)	missense	possibly damaging	0.57
R2065:Thrap3	UTSW	4	126,069,189 (GRCm39)	missense	possibly damaging	0.57
R2066:Thrap3	UTSW	4	126,069,189 (GRCm39)	missense	possibly damaging	0.57
R2067:Thrap3	UTSW	4	126,069,189 (GRCm39)	missense	possibly damaging	0.57
R2098:Thrap3	UTSW	4	126,073,823 (GRCm39)	missense	probably damaging	1.00
R3791:Thrap3	UTSW	4	126,061,293 (GRCm39)	missense	possibly damaging	0.76
R4052:Thrap3	UTSW	4	126,070,012 (GRCm39)	missense	probably damaging	1.00
R4097:Thrap3	UTSW	4	126,065,595 (GRCm39)	missense	probably damaging	1.00
R4153:Thrap3	UTSW	4	126,067,235 (GRCm39)	critical splice donor site	probably null
R4399:Thrap3	UTSW	4	126,060,872 (GRCm39)	splice site	probably benign
R5265:Thrap3	UTSW	4	126,061,433 (GRCm39)	missense	probably damaging	1.00
R5687:Thrap3	UTSW	4	126,074,279 (GRCm39)	unclassified	probably benign
R5993:Thrap3	UTSW	4	126,069,253 (GRCm39)	splice site	probably null
R6305:Thrap3	UTSW	4	126,074,600 (GRCm39)	unclassified	probably benign
R6917:Thrap3	UTSW	4	126,074,285 (GRCm39)	unclassified	probably benign
R7124:Thrap3	UTSW	4	126,074,231 (GRCm39)	missense	unknown
R7167:Thrap3	UTSW	4	126,078,920 (GRCm39)	intron	probably benign
R7227:Thrap3	UTSW	4	126,067,296 (GRCm39)	missense	probably damaging	1.00
R7343:Thrap3	UTSW	4	126,072,223 (GRCm39)	missense	probably damaging	0.98
R7695:Thrap3	UTSW	4	126,073,891 (GRCm39)	missense	probably damaging	1.00
R7889:Thrap3	UTSW	4	126,071,855 (GRCm39)	missense	probably benign	0.37
R7917:Thrap3	UTSW	4	126,069,213 (GRCm39)	missense	probably damaging	1.00
R8109:Thrap3	UTSW	4	126,080,273 (GRCm39)	missense	unknown
R9462:Thrap3	UTSW	4	126,070,048 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCATCAGCATCCTTCTCC -3'
(R):5'- CATGTTCCGGAAGTCCAGTAC -3'

Sequencing Primer
(F):5'- AGCCCAGTGTGTGGTCTCATC -3'
(R):5'- AGTACCAGCCCCAAGTGG -3'

Posted On

2016-06-09