Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Thrap3'

401637

Institutional Source

Beutler Lab

Gene Symbol

Thrap3

Ensembl Gene

ENSMUSG00000043962

Gene Name

thyroid hormone receptor associated protein 3

Synonyms

9330151F09Rik, B230333E16Rik, Trap150

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

R5265 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

126164082-126202760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126167640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 774 (S774P)

Ref Sequence

ENSEMBL: ENSMUSP00000079722 (fasta)

Gene Model

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

AlphaFold

Q569Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080919
AA Change: S774P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: S774P

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: 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: ENSMUST00000154702

Predicted Effect

probably benign
Transcript: ENSMUST00000163176

Predicted Effect

unknown
Transcript: ENSMUST00000163459
AA Change: S64P

SMART Domains

Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: S64P

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

Meta Mutation Damage Score

0.0809

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly 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
IGL00907: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
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
R9462:Thrap3	UTSW	4	126176255	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTACAAAGGTTCCCCGAG -3'
(R):5'- AGAGGAAACCCCAGGTCTAC -3'

Sequencing Primer
(F):5'- TACAAAGGTTCCCCGAGCTCTG -3'
(R):5'- TGGCTGACAGACCAGTCTTG -3'

Posted On

2016-07-06