Mutagenetix > Incidental Mutation

Incidental Mutation 'R6652:Thap2'

528102

Institutional Source

Beutler Lab

Gene Symbol

Thap2

Ensembl Gene

ENSMUSG00000020137

Gene Name

THAP domain containing, apoptosis associated protein 2

Synonyms

9030625G08Rik, 2900040O07Rik

MMRRC Submission

044773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115204303-115220340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115212441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 28 (D28V)

Ref Sequence

ENSEMBL: ENSMUSP00000151353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020346] [ENSMUST00000218842]

AlphaFold

Q9D305

Predicted Effect

probably benign
Transcript: ENSMUST00000020346

SMART Domains

Protein: ENSMUSP00000020346
Gene: ENSMUSG00000020137

Domain	Start	End	E-Value	Type
THAP	3	86	1.44e-20	SMART
DM3	22	85	4.67e-13	SMART
low complexity region	87	102	N/A	INTRINSIC
coiled coil region	131	163	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218842
AA Change: D28V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4206

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,164 (GRCm39)	D605G	probably damaging	Het
Cfh	A	T	1: 140,071,806 (GRCm39)	I294N	probably benign	Het
Clk3	A	G	9: 57,669,078 (GRCm39)	S49P	probably damaging	Het
Cmya5	A	G	13: 93,229,403 (GRCm39)	V1895A	probably benign	Het
Cmya5	T	C	13: 93,229,547 (GRCm39)	D1847G	probably damaging	Het
Cwf19l1	T	C	19: 44,103,138 (GRCm39)	D359G	probably benign	Het
Dag1	A	T	9: 108,086,289 (GRCm39)	M284K	probably damaging	Het
Ergic2	T	C	6: 148,091,079 (GRCm39)	Y211C	probably damaging	Het
Espnl	A	C	1: 91,272,421 (GRCm39)	I594L	probably benign	Het
Fam193b	A	G	13: 55,690,603 (GRCm39)	S226P	probably damaging	Het
Fat2	T	A	11: 55,143,088 (GRCm39)	I4254L	probably benign	Het
Fhdc1	T	C	3: 84,371,631 (GRCm39)	Y108C	probably damaging	Het
Fut9	G	C	4: 25,620,619 (GRCm39)	T65S	probably benign	Het
Gm9507	A	T	10: 77,647,493 (GRCm39)		probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Grap2	A	T	15: 80,532,723 (GRCm39)	N297Y	probably damaging	Het
Igfn1	A	G	1: 135,891,609 (GRCm39)	F2302S	probably damaging	Het
Ighv1-81	T	A	12: 115,884,051 (GRCm39)	I67F	probably damaging	Het
Kidins220	T	A	12: 25,060,059 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,730 (GRCm39)	S215T	probably benign	Het
Mc1r	G	A	8: 124,134,370 (GRCm39)	G41D	probably damaging	Het
Mov10l1	A	G	15: 88,878,105 (GRCm39)	Y129C	probably damaging	Het
Mthfsd	A	T	8: 121,825,560 (GRCm39)	L337Q	probably damaging	Het
Musk	C	T	4: 58,368,977 (GRCm39)	A629V	probably damaging	Het
Nadsyn1	A	T	7: 143,364,955 (GRCm39)	M250K	probably benign	Het
Ncapd2	G	A	6: 125,163,233 (GRCm39)	H92Y	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or6y1	G	A	1: 174,276,627 (GRCm39)	C146Y	probably damaging	Het
Plec	A	T	15: 76,063,974 (GRCm39)	V2100E	probably damaging	Het
Prss37	C	A	6: 40,496,090 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,631 (GRCm39)	E32V	probably damaging	Het
Senp7	C	A	16: 55,944,257 (GRCm39)	Q194K	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Spart	G	A	3: 55,032,248 (GRCm39)	E361K	probably benign	Het
Stn1	T	C	19: 47,496,017 (GRCm39)	T334A	probably benign	Het
Stoml1	A	G	9: 58,164,017 (GRCm39)	D112G	probably damaging	Het
Ubap2	A	T	4: 41,196,743 (GRCm39)	N872K	possibly damaging	Het
Vezt	A	G	10: 93,806,141 (GRCm39)	F757L	probably damaging	Het
Vmn1r204	T	C	13: 22,740,573 (GRCm39)	I68T	probably damaging	Het
Wnt10a	A	G	1: 74,842,613 (GRCm39)		probably null	Het
Yipf7	A	G	5: 69,698,504 (GRCm39)	M1T	probably null	Het
Zdhhc19	T	C	16: 32,316,047 (GRCm39)	F48S	probably damaging	Het
Zfp317	C	T	9: 19,558,335 (GRCm39)	T183I	probably damaging	Het

Other mutations in Thap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0111:Thap2	UTSW	10	115,208,532 (GRCm39)	missense	probably benign
R0125:Thap2	UTSW	10	115,212,277 (GRCm39)	splice site	probably null
R1964:Thap2	UTSW	10	115,220,152 (GRCm39)	missense	probably damaging	1.00
R4891:Thap2	UTSW	10	115,208,601 (GRCm39)	missense	probably damaging	1.00
R5373:Thap2	UTSW	10	115,208,744 (GRCm39)	nonsense	probably null
R5374:Thap2	UTSW	10	115,208,744 (GRCm39)	nonsense	probably null
R5521:Thap2	UTSW	10	115,208,665 (GRCm39)	nonsense	probably null
R6228:Thap2	UTSW	10	115,208,751 (GRCm39)	missense	probably damaging	0.99
R6242:Thap2	UTSW	10	115,208,831 (GRCm39)	missense	unknown
R7749:Thap2	UTSW	10	115,212,289 (GRCm39)	missense	probably damaging	0.99
R8200:Thap2	UTSW	10	115,212,392 (GRCm39)	missense
R9545:Thap2	UTSW	10	115,208,834 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGACCTACCAGAGACTTTATATGGG -3'
(R):5'- GCTAGATTGGAGGGAATAGCTC -3'

Sequencing Primer
(F):5'- TGGGTACAAAAATCAAAAATGGTTG -3'
(R):5'- GACATCTGGAGGTTGCTT -3'

Posted On

2018-07-24