Mutagenetix > Incidental Mutation

Incidental Mutation 'R1686:Thap7'

189379

Institutional Source

Beutler Lab

Gene Symbol

Thap7

Ensembl Gene

ENSMUSG00000022760

Gene Name

THAP domain containing 7

Synonyms

1810004B07Rik

MMRRC Submission

039719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17345846-17349000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17346576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 136 (P136S)

Ref Sequence

ENSEMBL: ENSMUSP00000156168 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000100125
AA Change: P136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097701
Gene: ENSMUSG00000022760
AA Change: P136S

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

probably damaging
Transcript: ENSMUST00000142666
AA Change: P136S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114775
Gene: ENSMUSG00000022760
AA Change: P136S

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: ENSMUST00000143805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142393

Predicted Effect

probably damaging
Transcript: ENSMUST00000231288
AA Change: P136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231548
AA Change: P136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000231424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231623

Predicted Effect

probably benign
Transcript: ENSMUST00000231307

Predicted Effect

probably benign
Transcript: ENSMUST00000231292

Predicted Effect

probably benign
Transcript: ENSMUST00000232041
AA Change: P37S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232046

Predicted Effect

probably benign
Transcript: ENSMUST00000231994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232438

Predicted Effect

probably benign
Transcript: ENSMUST00000232114

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,448,722 (GRCm39)	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,848,782 (GRCm39)	N14S	probably damaging	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,759,997 (GRCm39)	N72S	probably benign	Het
Akain1	T	A	17: 69,746,527 (GRCm39)	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,627,452 (GRCm39)	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,886,659 (GRCm39)	Y12N	probably damaging	Het
Aup1	A	T	6: 83,032,226 (GRCm39)	H131L	probably damaging	Het
Bag6	A	G	17: 35,363,928 (GRCm39)	T812A	possibly damaging	Het
Bmp2k	A	G	5: 97,211,392 (GRCm39)	Y520C	unknown	Het
Calm4	T	G	13: 3,888,302 (GRCm39)	V136G	probably damaging	Het
Catsper2	A	G	2: 121,230,523 (GRCm39)		probably null	Het
Cc2d2a	A	G	5: 43,896,713 (GRCm39)	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,454,049 (GRCm39)	V319D	possibly damaging	Het
Cux1	G	A	5: 136,304,235 (GRCm39)	R1314*	probably null	Het
Cxcl12	A	G	6: 117,150,508 (GRCm39)	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,412,014 (GRCm39)	D418G	probably benign	Het
Ddx28	G	C	8: 106,737,190 (GRCm39)	D289E	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	A	C	1: 24,068,887 (GRCm39)	S448A	probably benign	Het
Fbxo33	G	T	12: 59,251,626 (GRCm39)	N30K	possibly damaging	Het
Fgf12	A	C	16: 28,217,093 (GRCm39)	Y21D	probably damaging	Het
Galntl5	C	T	5: 25,415,432 (GRCm39)	S288L	probably benign	Het
Gart	G	T	16: 91,422,237 (GRCm39)	A760D	probably damaging	Het
Gba2	A	T	4: 43,573,869 (GRCm39)		probably benign	Het
Gm10518	C	A	1: 179,631,357 (GRCm39)	S139*	probably null	Het
Gm4781	A	T	10: 100,232,837 (GRCm39)		noncoding transcript	Het
Gm9790	A	G	3: 85,823,156 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,893,075 (GRCm39)	G127R	probably damaging	Het
Golim4	A	T	3: 75,802,443 (GRCm39)	V283E	probably benign	Het
Gprc5a	A	T	6: 135,055,918 (GRCm39)	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,471,341 (GRCm39)	K67E	probably benign	Het
Hapln3	C	A	7: 78,771,638 (GRCm39)	V84L	probably benign	Het
Hif3a	T	A	7: 16,778,789 (GRCm39)	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,726,969 (GRCm39)	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,015,663 (GRCm39)		probably benign	Het
Itga10	T	A	3: 96,559,141 (GRCm39)	F410Y	probably damaging	Het
Jup	T	C	11: 100,263,260 (GRCm39)	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,332,597 (GRCm39)	A228T	probably benign	Het
Lmntd2	C	T	7: 140,790,998 (GRCm39)	G445D	probably damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Magel2	T	A	7: 62,027,988 (GRCm39)	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,123,286 (GRCm39)	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910 (GRCm39)		probably benign	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mymk	A	T	2: 26,952,346 (GRCm39)	W174R	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nipal3	T	C	4: 135,174,599 (GRCm39)	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,330,920 (GRCm39)		probably benign	Het
Obox6	T	A	7: 15,567,750 (GRCm39)	L232F	probably damaging	Het
Obscn	A	C	11: 58,997,113 (GRCm39)		probably benign	Het
Or7g12	T	C	9: 18,899,839 (GRCm39)	L185P	probably damaging	Het
Phkb	A	G	8: 86,748,278 (GRCm39)	I706V	probably benign	Het
Plcb2	A	G	2: 118,546,168 (GRCm39)		probably benign	Het
Plek2	T	C	12: 78,941,184 (GRCm39)	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,046,665 (GRCm39)	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Psma7	A	T	2: 179,679,215 (GRCm39)	D184E	probably benign	Het
Rai14	T	A	15: 10,592,282 (GRCm39)	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,199,920 (GRCm39)	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,582,458 (GRCm39)	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,618,665 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,047,027 (GRCm39)	S763G	probably benign	Het
Sdk1	A	T	5: 142,020,292 (GRCm39)	H690L	probably benign	Het
Sfrp5	A	C	19: 42,190,143 (GRCm39)	V103G	possibly damaging	Het
Six6	A	G	12: 72,988,451 (GRCm39)	E208G	probably benign	Het
Sspo	A	T	6: 48,437,334 (GRCm39)	H1364L	probably benign	Het
Stard9	A	T	2: 120,529,973 (GRCm39)	T2077S	probably benign	Het
Tacr3	T	C	3: 134,535,254 (GRCm39)	L74P	probably damaging	Het
Tep1	T	C	14: 51,074,245 (GRCm39)	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,116,517 (GRCm39)		probably benign	Het
Thoc2l	T	A	5: 104,667,789 (GRCm39)	Y770*	probably null	Het
Tmc2	T	C	2: 130,098,036 (GRCm39)	V717A	possibly damaging	Het
Usp43	T	A	11: 67,778,593 (GRCm39)	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,379,371 (GRCm39)	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,493,672 (GRCm39)	N16I	probably damaging	Het
Wdr95	A	T	5: 149,516,566 (GRCm39)	D327V	probably damaging	Het
Zfp128	T	G	7: 12,624,563 (GRCm39)	Y310*	probably null	Het

Other mutations in Thap7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Thap7	APN	16	17,346,609 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CTGTGCTCATTCTGGATGTAGGCTC -3'
(R):5'- CAAGTTGCGTCGAACAGCCAAG -3'

Sequencing Primer
(F):5'- TGGATGTAGGCTCCAGCAG -3'
(R):5'- CAAGGGGCATGGTTATCCAC -3'

Posted On

2014-05-14