Mutagenetix > Incidental Mutation

Incidental Mutation 'R9441:Thap1'

713648

Institutional Source

Beutler Lab

Gene Symbol

Thap1

Ensembl Gene

ENSMUSG00000037214

Gene Name

THAP domain containing, apoptosis associated protein 1

Synonyms

4833431A01Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9441 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

26648197-26654179 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGCATCTGCTCGGAGCA to CAGCA at 26650884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036807] [ENSMUST00000130231] [ENSMUST00000131138]

AlphaFold

Q8CHW1

Predicted Effect

probably null
Transcript: ENSMUST00000036807

SMART Domains

Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214

Domain	Start	End	E-Value	Type
THAP	3	86	6.6e-20	SMART
DM3	22	86	3.01e-16	SMART
low complexity region	93	108	N/A	INTRINSIC
coiled coil region	137	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127536

Predicted Effect

probably null
Transcript: ENSMUST00000130231

SMART Domains

Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214

Domain	Start	End	E-Value	Type
DM3	2	63	1.13e-11	SMART
THAP	2	63	6.77e-8	SMART
low complexity region	70	85	N/A	INTRINSIC
SCOP:d1lxa__	121	173	8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131138

SMART Domains

Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
SCOP:d1fbva4	85	135	1e-6	SMART
Blast:RING	115	135	3e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209926

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO is embryonic lethal. Heterozygous KO affects motor control and the morphology of the cerebellum dentate nucleus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,917,776 (GRCm39)	G20V	unknown	Het
Adam22	T	C	5: 8,161,974 (GRCm39)	T733A	possibly damaging	Het
Adam28	T	A	14: 68,874,943 (GRCm39)	N245Y	probably damaging	Het
Aldh9a1	C	G	1: 167,177,919 (GRCm39)	R39G	probably benign	Het
Armc3	A	C	2: 19,253,426 (GRCm39)	E189A	possibly damaging	Het
Atg9a	C	T	1: 75,163,086 (GRCm39)	C338Y	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cars1	G	A	7: 143,123,185 (GRCm39)	T560I	probably benign	Het
Casp8ap2	A	G	4: 32,645,873 (GRCm39)	K1649E	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd84	G	A	1: 171,713,994 (GRCm39)		probably null	Het
Ces2g	G	T	8: 105,690,623 (GRCm39)	A135S	possibly damaging	Het
Cfh	T	C	1: 140,030,149 (GRCm39)	D926G	probably benign	Het
Chrm2	A	G	6: 36,500,955 (GRCm39)	T271A	probably benign	Het
Col6a3	G	T	1: 90,705,249 (GRCm39)	Y2824*	probably null	Het
Cth	T	A	3: 157,616,575 (GRCm39)	R196S	probably damaging	Het
Cyp2g1	T	C	7: 26,514,060 (GRCm39)	M222T	possibly damaging	Het
Depdc5	T	A	5: 33,095,042 (GRCm39)	M773K	probably benign	Het
Dmbx1	G	A	4: 115,780,884 (GRCm39)	P39L	probably damaging	Het
Dst	G	C	1: 34,238,432 (GRCm39)	W1697C	probably damaging	Het
Eno1	C	T	4: 150,321,208 (GRCm39)		probably benign	Het
Erc2	G	T	14: 27,802,114 (GRCm39)	V761L	possibly damaging	Het
Frem1	A	T	4: 82,924,083 (GRCm39)	I292N	probably damaging	Het
Ftdc2	G	A	16: 58,458,884 (GRCm39)		probably benign	Het
Hip1	G	T	5: 135,460,571 (GRCm39)	L530M	possibly damaging	Het
Kcna2	A	G	3: 107,012,268 (GRCm39)	Q283R	probably benign	Het
Kndc1	G	A	7: 139,501,392 (GRCm39)	D894N	probably damaging	Het
Lats1	G	T	10: 7,578,681 (GRCm39)	G602W	probably damaging	Het
Lgals12	A	G	19: 7,581,356 (GRCm39)	L117P	probably damaging	Het
Mfsd4b1	A	T	10: 39,878,680 (GRCm39)	L406I	possibly damaging	Het
Msln	A	T	17: 25,969,731 (GRCm39)	M333K	probably benign	Het
Mup2	A	G	4: 60,139,740 (GRCm39)	V16A	probably benign	Het
Mybpc2	T	C	7: 44,166,330 (GRCm39)	E220G	probably null	Het
Myh6	A	G	14: 55,197,771 (GRCm39)	Y456H	probably benign	Het
Nlrp1a	A	G	11: 71,013,934 (GRCm39)	S439P	probably damaging	Het
Nyap1	T	C	5: 137,733,194 (GRCm39)	E613G	probably benign	Het
Or10b1	G	A	10: 78,355,609 (GRCm39)	V56M	probably benign	Het
Parp8	C	T	13: 117,029,562 (GRCm39)	V554M	probably damaging	Het
Phpt1	A	T	2: 25,464,750 (GRCm39)	D34E	probably benign	Het
Ppip5k2	G	A	1: 97,672,921 (GRCm39)	S463L	probably benign	Het
Prss28	A	G	17: 25,530,215 (GRCm39)	Q173R	probably benign	Het
Rtel1	T	A	2: 180,988,860 (GRCm39)	W441R	possibly damaging	Het
Serbp1	T	C	6: 67,244,025 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,347,848 (GRCm39)	K1319E	unknown	Het
Slc35a4	G	A	18: 36,816,111 (GRCm39)	G314S	probably damaging	Het
Slc8a1	A	G	17: 81,956,498 (GRCm39)	I180T	probably damaging	Het
Spire1	G	A	18: 67,652,462 (GRCm39)	P205L	probably benign	Het
Tat	G	T	8: 110,720,547 (GRCm39)	G168W	probably damaging	Het
Trh	C	T	6: 92,219,939 (GRCm39)	G126R	probably benign	Het
Ugcg	G	A	4: 59,207,843 (GRCm39)	G61R	probably damaging	Het
Uggt1	T	C	1: 36,260,306 (GRCm39)	T170A	probably benign	Het
Unc5b	G	A	10: 60,608,028 (GRCm39)	P702S	probably damaging	Het
Usp8	A	G	2: 126,562,073 (GRCm39)	D89G	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,674 (GRCm39)	I845K	probably damaging	Het
Vnn3	A	G	10: 23,740,498 (GRCm39)	N267S	possibly damaging	Het
Xkr9	A	G	1: 13,771,587 (GRCm39)	R368G	possibly damaging	Het

Other mutations in Thap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Thap1	APN	8	26,652,759 (GRCm39)	missense	probably benign	0.21
IGL00990:Thap1	APN	8	26,650,910 (GRCm39)	missense	possibly damaging	0.74
IGL02491:Thap1	APN	8	26,650,885 (GRCm39)	missense	probably damaging	0.97
IGL03097:Thap1	UTSW	8	26,652,498 (GRCm39)	missense	probably benign
IGL03098:Thap1	UTSW	8	26,652,498 (GRCm39)	missense	probably benign
R0755:Thap1	UTSW	8	26,648,501 (GRCm39)	missense	probably damaging	1.00
R0927:Thap1	UTSW	8	26,652,733 (GRCm39)	missense	probably benign	0.00
R4645:Thap1	UTSW	8	26,652,597 (GRCm39)	missense	probably damaging	1.00
R4661:Thap1	UTSW	8	26,650,874 (GRCm39)	missense	probably benign	0.04
R4803:Thap1	UTSW	8	26,650,882 (GRCm39)	frame shift	probably null
R4978:Thap1	UTSW	8	26,650,882 (GRCm39)	frame shift	probably null
R6424:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R6447:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R6503:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R6995:Thap1	UTSW	8	26,652,679 (GRCm39)	missense	probably damaging	1.00
R7169:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R7923:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R8209:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R8419:Thap1	UTSW	8	26,648,502 (GRCm39)	nonsense	probably null
R8519:Thap1	UTSW	8	26,650,925 (GRCm39)	missense	probably damaging	0.97
R8732:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R8832:Thap1	UTSW	8	26,648,261 (GRCm39)	intron	probably benign
R8863:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9205:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9271:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9319:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9332:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9332:Thap1	UTSW	8	26,650,882 (GRCm39)	frame shift	probably null
R9380:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9414:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9430:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9460:Thap1	UTSW	8	26,650,884 (GRCm39)	frame shift	probably null
R9739:Thap1	UTSW	8	26,650,990 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- TCAGAGTCTCCTTAGGATGGGG -3'
(R):5'- TCCCATGAACACATTAGCTTCAG -3'

Sequencing Primer
(F):5'- GTAAGGTAGTTCTTTAGTAAGCCGG -3'
(R):5'- ATCAGGAGTTCCGATTCAGC -3'

Posted On

2022-06-15