Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Thap1'

653093

Institutional Source

Beutler Lab

Gene Symbol

Thap1

Ensembl Gene

ENSMUSG00000037214

Gene Name

THAP domain containing, apoptosis associated protein 1

Synonyms

4833431A01Rik

MMRRC Submission

067772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26158141-26164151 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 26158474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 8 (Y8*)

Ref Sequence

ENSEMBL: ENSMUSP00000042464 (fasta)

Gene Model

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

AlphaFold

Q8CHW1

Predicted Effect

probably null
Transcript: ENSMUST00000036807
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214
AA Change: Y8*

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

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	T	7: 28,143,921	G745C	probably damaging	Het
9930111J21Rik2	A	T	11: 49,019,485	I707N	probably damaging	Het
Abca14	A	G	7: 120,216,266	I246V	probably benign	Het
Adam19	G	A	11: 46,125,023	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,518,789	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,867,356	R536H	probably damaging	Het
Casz1	T	A	4: 148,948,583	S1310T	probably benign	Het
Chil1	A	T	1: 134,189,542	D367V	probably damaging	Het
Cltc	A	G	11: 86,707,566	V990A	probably benign	Het
Col6a3	A	T	1: 90,802,213	S1790R	probably damaging	Het
Comt	C	T	16: 18,411,887	W24*	probably null	Het
Cyp2c70	T	C	19: 40,160,580	E374G	possibly damaging	Het
Dach1	T	C	14: 98,168,640	T224A	probably damaging	Het
Dapk1	G	A	13: 60,740,097	E656K	probably benign	Het
Dicer1	A	G	12: 104,702,677	S1249P	probably benign	Het
Dpp8	A	C	9: 65,080,755	I861L	probably benign	Het
Enam	C	T	5: 88,503,350	S906L	possibly damaging	Het
Eral1	A	T	11: 78,074,080	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809	G807C	possibly damaging	Het
Fsip2	G	C	2: 82,978,619	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm10696	T	C	3: 94,175,614	I297V	probably benign	Het
Gm13088	A	G	4: 143,656,427	I74T	probably damaging	Het
Gm4353	G	A	7: 116,083,549	P266S	probably benign	Het
Gpr84	T	C	15: 103,309,536	N38S	probably damaging	Het
Guca1a	A	T	17: 47,395,555	I115N	probably damaging	Het
Hic1	C	T	11: 75,166,270	V598M	possibly damaging	Het
Itga1	A	T	13: 115,007,068	I309N	probably damaging	Het
Itga11	T	C	9: 62,755,178	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,340,370	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203	E127G	possibly damaging	Het
Lama2	T	A	10: 27,422,563	Y179F	probably benign	Het
Lamb2	G	T	9: 108,488,364	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Muc3	A	T	5: 137,146,722	N33K		Het
Myt1	A	T	2: 181,782,606	R31*	probably null	Het
Nectin2	T	C	7: 19,717,721	T463A	probably benign	Het
Nectin2	A	T	7: 19,738,078	Y129N	probably damaging	Het
Olfr103	A	G	17: 37,336,575	I219T	possibly damaging	Het
Olfr1297	A	T	2: 111,621,504	M190K	probably benign	Het
Papolb	T	A	5: 142,528,541	N449I	possibly damaging	Het
Parn	T	C	16: 13,648,474	K236R	probably benign	Het
Prelid1	G	A	13: 55,322,885	R42Q	probably damaging	Het
Prelp	A	G	1: 133,915,282	F42L	probably benign	Het
Pygo1	C	T	9: 72,945,098	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,213,022	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,237,430	D252V	probably benign	Het
Socs7	A	G	11: 97,363,339	K233R	probably benign	Het
Stat4	A	G	1: 52,098,478	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,389,077	D43G	probably benign	Het
Tln1	A	G	4: 43,536,397	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,309,306	S303P	probably damaging	Het
Tomm40	C	T	7: 19,701,834	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,501,815	I144K	probably damaging	Het

Other mutations in Thap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Thap1	APN	8	26160882	missense	possibly damaging	0.74
IGL00990:Thap1	APN	8	26162731	missense	probably benign	0.21
IGL02491:Thap1	APN	8	26160857	missense	probably damaging	0.97
IGL03097:Thap1	UTSW	8	26162470	missense	probably benign
IGL03098:Thap1	UTSW	8	26162470	missense	probably benign
R0755:Thap1	UTSW	8	26158473	missense	probably damaging	1.00
R0927:Thap1	UTSW	8	26162705	missense	probably benign	0.00
R4645:Thap1	UTSW	8	26162569	missense	probably damaging	1.00
R4661:Thap1	UTSW	8	26160846	missense	probably benign	0.04
R4803:Thap1	UTSW	8	26160854	frame shift	probably null
R4978:Thap1	UTSW	8	26160854	frame shift	probably null
R6424:Thap1	UTSW	8	26160856	frame shift	probably null
R6447:Thap1	UTSW	8	26160856	frame shift	probably null
R6503:Thap1	UTSW	8	26160856	frame shift	probably null
R6995:Thap1	UTSW	8	26162651	missense	probably damaging	1.00
R7169:Thap1	UTSW	8	26160856	frame shift	probably null
R7923:Thap1	UTSW	8	26160856	frame shift	probably null
R8209:Thap1	UTSW	8	26160856	frame shift	probably null
R8519:Thap1	UTSW	8	26160897	missense	probably damaging	0.97
R8732:Thap1	UTSW	8	26160856	frame shift	probably null
R8832:Thap1	UTSW	8	26158233	intron	probably benign
R8863:Thap1	UTSW	8	26160856	frame shift	probably null
R9205:Thap1	UTSW	8	26160856	frame shift	probably null
R9271:Thap1	UTSW	8	26160856	frame shift	probably null
R9319:Thap1	UTSW	8	26160856	frame shift	probably null
R9332:Thap1	UTSW	8	26160854	frame shift	probably null
R9332:Thap1	UTSW	8	26160856	frame shift	probably null
R9380:Thap1	UTSW	8	26160856	frame shift	probably null
R9414:Thap1	UTSW	8	26160856	frame shift	probably null
R9430:Thap1	UTSW	8	26160856	frame shift	probably null
R9441:Thap1	UTSW	8	26160856	frame shift	probably null
R9460:Thap1	UTSW	8	26160856	frame shift	probably null
R9739:Thap1	UTSW	8	26160962	missense	probably benign	0.32

Predicted Primers

Posted On

2020-10-20