Mutagenetix > Incidental Mutation

Incidental Mutation 'R4891:Thap2'

377315

Institutional Source

Beutler Lab

Gene Symbol

Thap2

Ensembl Gene

ENSMUSG00000020137

Gene Name

THAP domain containing, apoptosis associated protein 2

Synonyms

9030625G08Rik, 2900040O07Rik

MMRRC Submission

042496-MU

Accession Numbers

Essential gene?

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

Stock #

R4891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115204303-115220340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115208601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 173 (K173R)

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: K173R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,166,072 (GRCm39)	Y1088C	probably damaging	Het
Cercam	C	A	2: 29,759,283 (GRCm39)		probably benign	Het
Chst1	A	G	2: 92,444,337 (GRCm39)	T270A	possibly damaging	Het
Cluh	C	T	11: 74,555,885 (GRCm39)	T816I	possibly damaging	Het
Edn3	A	G	2: 174,603,525 (GRCm39)	H91R	probably benign	Het
Fam135a	A	G	1: 24,069,409 (GRCm39)	S487P	probably benign	Het
Galns	T	A	8: 123,325,895 (GRCm39)	D212V	possibly damaging	Het
Grin2a	A	G	16: 9,475,570 (GRCm39)	V582A	possibly damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Kmt2b	C	T	7: 30,276,186 (GRCm39)	W1062*	probably null	Het
Lrp1	T	C	10: 127,377,621 (GRCm39)	N4110S	probably damaging	Het
Mag	T	C	7: 30,599,793 (GRCm39)	H582R	possibly damaging	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Ndufa5	A	G	6: 24,519,246 (GRCm39)	V26A	possibly damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Or13j1	C	T	4: 43,706,194 (GRCm39)	A125T	probably damaging	Het
Or51g2	T	A	7: 102,622,759 (GRCm39)	I147L	probably benign	Het
Or5ac24	T	A	16: 59,165,834 (GRCm39)	T77S	possibly damaging	Het
Plxdc2	A	G	2: 16,716,957 (GRCm39)	H347R	probably benign	Het
Ptprn2	A	G	12: 117,196,985 (GRCm39)		probably null	Het
Rab3gap2	C	T	1: 184,991,563 (GRCm39)	A683V	probably benign	Het
Rnf157	A	G	11: 116,249,496 (GRCm39)	V240A	probably damaging	Het
Slc10a5	A	T	3: 10,399,685 (GRCm39)	V325E	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,788,497 (GRCm39)	R1159C	probably damaging	Het
Stk36	A	G	1: 74,642,415 (GRCm39)	D14G	probably damaging	Het
Themis2	G	T	4: 132,510,668 (GRCm39)	Q625K	probably benign	Het
Vcpip1	G	T	1: 9,818,287 (GRCm39)	P32Q	unknown	Het
Vmn1r229	A	T	17: 21,035,081 (GRCm39)	T109S	probably damaging	Het
Vps13b	T	A	15: 35,640,661 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,345 (GRCm39)		probably benign	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zdhhc1	C	T	8: 106,199,649 (GRCm39)	R383Q	probably benign	Het
Zfp462	T	C	4: 55,060,055 (GRCm39)	S1194P	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
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
R6652:Thap2	UTSW	10	115,212,441 (GRCm39)	missense	probably damaging	1.00
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'- CTGGGTTCTGTGTGAGGAAAAC -3'
(R):5'- AGTTTTCCTCCAACTGGACCATG -3'

Sequencing Primer
(F):5'- AACTTGAGTGCAGAGAGTCTCTTCC -3'
(R):5'- TTTAAAGCTGAACGGCAGTCAGC -3'

Posted On

2016-03-17