Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Thap1'

662809

Institutional Source

Beutler Lab

Gene Symbol

Thap1

Ensembl Gene

ENSMUSG00000037214

Gene Name

THAP domain containing, apoptosis associated protein 1

Synonyms

4833431A01Rik

MMRRC Submission

068580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8732 (G1)

Quality Score

123.467

Status

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: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,981,622 (GRCm39)	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,578,906 (GRCm39)	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,222,643 (GRCm39)	N293S	probably benign	Het
Aup1	A	T	6: 83,033,602 (GRCm39)	H302L	probably damaging	Het
Bptf	G	A	11: 106,931,206 (GRCm39)	R277W	probably damaging	Het
Cald1	A	G	6: 34,734,946 (GRCm39)	I346V	unknown	Het
Cd44	T	C	2: 102,664,645 (GRCm39)	T519A	possibly damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,689,195 (GRCm39)	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,308,628 (GRCm39)	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,932,859 (GRCm39)	I361F	possibly damaging	Het
Dock5	A	T	14: 68,083,449 (GRCm39)	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326 (GRCm39)	R430S	probably damaging	Het
Dync2i2	T	A	2: 29,922,220 (GRCm39)	T414S	possibly damaging	Het
Efcab3	T	A	11: 104,695,100 (GRCm39)	F1730L	probably benign	Het
Eml5	C	T	12: 98,782,218 (GRCm39)	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,102,975 (GRCm39)	A91V	probably damaging	Het
Fancl	A	T	11: 26,419,754 (GRCm39)	I336L	probably benign	Het
Fpr3	A	G	17: 18,191,223 (GRCm39)	T165A	possibly damaging	Het
Gon4l	A	G	3: 88,807,291 (GRCm39)	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Hdac4	C	A	1: 91,875,239 (GRCm39)	A911S	probably damaging	Het
Ighd	T	C	12: 113,378,183 (GRCm39)	N139D		Het
Klhl22	T	A	16: 17,589,690 (GRCm39)	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,928,180 (GRCm39)	S1226G	probably benign	Het
Lama5	A	T	2: 179,828,481 (GRCm39)	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,650,985 (GRCm39)	I468V	probably benign	Het
Lmtk3	G	A	7: 45,447,712 (GRCm39)	A1253T	unknown	Het
Lta	T	A	17: 35,423,045 (GRCm39)	N93Y	probably damaging	Het
Macf1	A	T	4: 123,403,563 (GRCm39)		probably null	Het
Mink1	A	G	11: 70,500,902 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ntpcr	A	G	8: 126,472,074 (GRCm39)	M132V	probably benign	Het
Or14a257	A	G	7: 86,138,061 (GRCm39)	S233P	probably damaging	Het
Or52n1	A	G	7: 104,383,115 (GRCm39)	M152T	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Padi2	A	G	4: 140,660,590 (GRCm39)	I357V	probably benign	Het
Pax7	G	T	4: 139,506,920 (GRCm39)	H372Q	probably benign	Het
Paxip1	A	G	5: 27,949,541 (GRCm39)	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,412,822 (GRCm39)	D199A	probably null	Het
Pkd1l2	T	C	8: 117,792,311 (GRCm39)	N494D	probably benign	Het
Prdm2	G	T	4: 142,862,580 (GRCm39)	Q237K	probably benign	Het
Prune2	T	C	19: 17,097,769 (GRCm39)	L1091P	probably damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rassf5	A	G	1: 131,106,264 (GRCm39)	*414Q	probably null	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rrp9	C	A	9: 106,360,388 (GRCm39)	T238K	probably benign	Het
Slc44a2	A	G	9: 21,259,882 (GRCm39)	D630G	probably benign	Het
Slc7a9	A	G	7: 35,156,443 (GRCm39)	D295G	probably benign	Het
Slco3a1	A	T	7: 73,934,054 (GRCm39)	M706K	possibly damaging	Het
Spag9	T	C	11: 93,962,514 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,590,180 (GRCm39)	Y394N	probably damaging	Het
Stard9	T	C	2: 120,510,442 (GRCm39)	L341P	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,061,809 (GRCm39)	C334S	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem74	A	T	15: 43,731,456 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,537,480 (GRCm39)	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,627,735 (GRCm39)	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 23,754,890 (GRCm39)	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,439 (GRCm39)	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,209 (GRCm39)	I437K	unknown	Het
Ywhae	A	G	11: 75,642,769 (GRCm39)	N43D	probably damaging	Het
Zfp583	A	T	7: 6,320,210 (GRCm39)	Y267*	probably null	Het
Zfp608	C	T	18: 55,121,072 (GRCm39)	G172R	probably benign	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
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
R9441: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'- CCCATGAACACATTAGCTTCAG -3'

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

Posted On

2021-03-08