Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Thap1'

558125

Institutional Source

Beutler Lab

Gene Symbol

Thap1

Ensembl Gene

ENSMUSG00000037214

Gene Name

THAP domain containing, apoptosis associated protein 1

Synonyms

4833431A01Rik

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7169 (G1)

Quality Score

173.468

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: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Dpm1	A	T	2: 168,053,343 (GRCm39)	Y207*	probably null	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lmbr1l	CACTACATACTACATACTACATACTACATACTACATACTACATAC	CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC	15: 98,807,039 (GRCm39)		probably null	Het
Lmbr1l	ACTACAT	ACTACATGCTACAT	15: 98,807,075 (GRCm39)		probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rabggta	C	G	14: 55,958,358 (GRCm39)	R101P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snph	T	A	2: 151,436,307 (GRCm39)	N207I	probably damaging	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Tnfrsf11a	A	T	1: 105,772,421 (GRCm39)	R569S	possibly damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	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
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

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

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

Posted On

2019-06-26