Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01519:Thap7'

89419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thap7

Ensembl Gene

ENSMUSG00000022760

Gene Name

THAP domain containing 7

Synonyms

1810004B07Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

IGL01519

Quality Score

Status

Chromosome

Chromosomal Location

17345846-17349000 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 17346609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000100125] [ENSMUST00000142666] [ENSMUST00000231292] [ENSMUST00000231548] [ENSMUST00000231288] [ENSMUST00000231307] [ENSMUST00000231424] [ENSMUST00000232114] [ENSMUST00000231994] [ENSMUST00000232041]

AlphaFold

Q8VCZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000023444

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761

Domain	Start	End	E-Value	Type
Pfam:Kelch_6	64	103	1.1e-7	PFAM
Pfam:Kelch_1	64	105	1.7e-7	PFAM
Pfam:Kelch_4	64	113	4.7e-10	PFAM
Pfam:Kelch_3	74	123	3.1e-10	PFAM
Pfam:Kelch_5	111	152	7.2e-9	PFAM
Pfam:Kelch_1	114	161	2.8e-7	PFAM
Pfam:Kelch_2	114	163	1e-7	PFAM
Pfam:Kelch_4	114	170	1.9e-6	PFAM
Pfam:Kelch_3	124	180	9.1e-9	PFAM
Pfam:Kelch_4	171	224	6.1e-6	PFAM
Pfam:Kelch_3	181	232	6e-7	PFAM
Pfam:Kelch_1	224	267	1e-6	PFAM
Pfam:Kelch_4	225	278	6.2e-6	PFAM
Pfam:Kelch_3	234	289	2.2e-8	PFAM
Pfam:Kelch_1	280	325	7.7e-10	PFAM
Pfam:Kelch_2	280	325	4.3e-7	PFAM
Pfam:Kelch_6	280	325	9.6e-9	PFAM
Pfam:Kelch_4	280	329	2.5e-8	PFAM
BTB	440	571	4.16e-4	SMART
BTB	664	765	2.95e-18	SMART
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100125

SMART Domains

Protein: ENSMUSP00000097701
Gene: ENSMUSG00000022760

Domain	Start	End	E-Value	Type
THAP	3	99	5e-20	SMART
DM3	25	98	4.22e-20	SMART
low complexity region	118	130	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
coiled coil region	239	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143805

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114775
Gene: ENSMUSG00000022760

Domain	Start	End	E-Value	Type
THAP	3	99	5e-20	SMART
DM3	25	98	4.22e-20	SMART
low complexity region	118	130	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231230

Predicted Effect

probably benign
Transcript: ENSMUST00000231292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231446

Predicted Effect

probably benign
Transcript: ENSMUST00000231548

Predicted Effect

probably benign
Transcript: ENSMUST00000231288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231565

Predicted Effect

probably benign
Transcript: ENSMUST00000231307

Predicted Effect

probably benign
Transcript: ENSMUST00000231424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232438

Predicted Effect

probably benign
Transcript: ENSMUST00000232114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231699

Predicted Effect

probably benign
Transcript: ENSMUST00000231994

Predicted Effect

probably benign
Transcript: ENSMUST00000232041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232379

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap17b	T	C	X: 35,875,503 (GRCm39)	D668G	probably damaging	Het
Btbd3	A	G	2: 138,121,697 (GRCm39)	M127V	probably benign	Het
Btbd9	T	C	17: 30,518,575 (GRCm39)	T462A	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chd1	G	A	17: 17,598,831 (GRCm39)	G98R	probably damaging	Het
Ckap2	G	A	8: 22,658,914 (GRCm39)	R610C	probably benign	Het
Col18a1	C	T	10: 76,895,157 (GRCm39)	R1168H	probably damaging	Het
Csmd3	G	A	15: 47,460,246 (GRCm39)	T3515I	probably benign	Het
Dcn	A	G	10: 97,319,385 (GRCm39)	Q54R	probably damaging	Het
Dock11	A	G	X: 35,227,006 (GRCm39)	I86V	probably benign	Het
Dram2	T	A	3: 106,478,945 (GRCm39)	I179N	possibly damaging	Het
Fbn1	C	T	2: 125,158,939 (GRCm39)	M2275I	probably benign	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gk2	T	A	5: 97,603,646 (GRCm39)	L397F	probably damaging	Het
Gm8122	T	A	14: 43,092,696 (GRCm39)	I22L	unknown	Het
Golga4	A	G	9: 118,356,160 (GRCm39)	E104G	probably damaging	Het
Herc2	G	A	7: 55,753,698 (GRCm39)	R699H	probably damaging	Het
Hrh1	A	C	6: 114,457,262 (GRCm39)	E181A	probably damaging	Het
Lsm8	T	C	6: 18,851,699 (GRCm39)	F50S	probably damaging	Het
Or1f19	T	A	16: 3,410,398 (GRCm39)	I46N	probably damaging	Het
Pard6g	A	G	18: 80,123,071 (GRCm39)	D35G	probably benign	Het
Plod2	G	A	9: 92,477,348 (GRCm39)	V347I	probably benign	Het
Pramel51	T	C	12: 88,144,331 (GRCm39)	R161G	probably benign	Het
Snx13	T	C	12: 35,188,471 (GRCm39)		probably benign	Het
Taf1	T	A	X: 100,606,412 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,313,634 (GRCm39)	Y351C	probably damaging	Het
Tenm4	C	A	7: 96,544,384 (GRCm39)	D2133E	probably damaging	Het
Tpr	T	A	1: 150,306,919 (GRCm39)	S1505T	probably benign	Het
Trav9-2	C	T	14: 53,828,809 (GRCm39)	R60W	probably damaging	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het

Other mutations in Thap7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1686:Thap7	UTSW	16	17,346,576 (GRCm39)	missense	probably damaging	1.00
R1708:Thap7	UTSW	16	17,346,814 (GRCm39)	missense	probably benign	0.00
R5965:Thap7	UTSW	16	17,348,611 (GRCm39)	intron	probably benign
R6208:Thap7	UTSW	16	17,346,300 (GRCm39)	missense	possibly damaging	0.71
R7749:Thap7	UTSW	16	17,346,467 (GRCm39)	missense	probably benign
R8252:Thap7	UTSW	16	17,346,486 (GRCm39)	missense	probably benign	0.31
R9193:Thap7	UTSW	16	17,346,901 (GRCm39)	missense	probably damaging	1.00
R9513:Thap7	UTSW	16	17,348,152 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03