Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Thap1'

512157

Institutional Source

Beutler Lab

Gene Symbol

Thap1

Ensembl Gene

ENSMUSG00000037214

Gene Name

THAP domain containing, apoptosis associated protein 1

Synonyms

4833431A01Rik

MMRRC Submission

042573-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4978 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

26648197-26654179 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGCAGCATCTGCTCG to AG at 26650882 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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adam39	T	C	8: 41,278,374 (GRCm39)	I255T	possibly damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Hcls1	T	C	16: 36,758,222 (GRCm39)	W38R	probably damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Limk2	G	T	11: 3,359,069 (GRCm39)		probably benign	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Or52x1	T	C	7: 104,853,398 (GRCm39)	I51V	probably benign	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Umodl1	T	C	17: 31,205,055 (GRCm39)	I550T	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
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

Posted On

2018-04-10