Mutagenetix > Incidental Mutations

Incidental Mutation 'R2160:Thap12'

235111

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

040163-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R2160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98710126 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 71 (S71G)

Ref Sequence

ENSEMBL: ENSMUSP00000118736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033009
AA Change: S71G

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: S71G

Domain	Start	End	E-Value	Type
THAP	3	92	8.38e-22	SMART
DM3	21	91	1.49e-20	SMART
Pfam:DUF4371	112	338	1.9e-22	PFAM
low complexity region	433	445	N/A	INTRINSIC
Pfam:Dimer_Tnp_hAT	631	726	6.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126356

SMART Domains

Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753

Domain	Start	End	E-Value	Type
THAP	3	78	3.21e-9	SMART
DM3	21	78	1.89e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146473

Predicted Effect

probably damaging
Transcript: ENSMUST00000153566
AA Change: S71G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: S71G

Domain	Start	End	E-Value	Type
THAP	3	92	8.38e-22	SMART
DM3	21	91	1.49e-20	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	G	2: 154,319,675	N576D	possibly damaging	Het
Braf	C	T	6: 39,662,073	C248Y	probably damaging	Het
Carmil2	A	G	8: 105,697,048	E1218G	possibly damaging	Het
Cntnap4	G	T	8: 112,757,571	G419C	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Dnah9	C	T	11: 66,117,483	D839N	probably damaging	Het
Evc2	A	G	5: 37,380,518	T517A	possibly damaging	Het
Fbxw8	G	A	5: 118,124,988	P209S	probably damaging	Het
Gcm1	A	G	9: 78,061,380	K121E	probably benign	Het
Gprc6a	CAAA	CA	10: 51,615,680		probably null	Het
Herc2	A	G	7: 56,212,922	D4077G	probably benign	Het
Inpp4b	T	A	8: 82,121,375	L937*	probably null	Het
Ipcef1	A	T	10: 6,890,650	I349N	probably damaging	Het
Ipmk	A	G	10: 71,381,426	T267A	probably benign	Het
Jph3	G	T	8: 121,753,231	R216L	possibly damaging	Het
Kctd16	A	G	18: 40,259,085	E242G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Krt76	A	G	15: 101,888,385	Y360H	probably damaging	Het
Lctl	A	G	9: 64,117,767	I12V	probably benign	Het
Lrig3	T	C	10: 125,997,696	V347A	possibly damaging	Het
Lrrk2	C	T	15: 91,796,060	S2058F	probably damaging	Het
Mark2	G	C	19: 7,282,747	S111C	probably damaging	Het
Mon2	T	A	10: 123,075,929	K12*	probably null	Het
Nupl1	A	G	14: 60,239,508	V238A	probably benign	Het
Pak7	T	C	2: 136,098,382	D504G	probably benign	Het
Pla2g4e	T	C	2: 120,185,206	S286G	probably benign	Het
Ppfia4	A	T	1: 134,313,723	V498D	probably benign	Het
Ppfibp1	A	G	6: 147,027,453	E846G	probably damaging	Het
Ppp3ca	G	A	3: 136,877,630	C166Y	probably damaging	Het
Prpf3	T	C	3: 95,845,230	K244E	probably benign	Het
Pzp	A	G	6: 128,525,276	S37P	probably damaging	Het
Rab11fip3	G	A	17: 26,069,054	H42Y	probably benign	Het
Sprn	C	A	7: 140,153,506		probably benign	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Vmn1r7	A	G	6: 57,024,894	F127S	probably damaging	Het
Vmn2r54	C	T	7: 12,615,493	V721I	probably benign	Het
Vmn2r56	A	G	7: 12,694,219	F707L	probably benign	Het
Zfp976	C	T	7: 42,613,930	S161N	probably benign	Het

Other mutations in Thap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Thap12	APN	7	98716137	missense	possibly damaging	0.82
IGL01145:Thap12	APN	7	98712903	makesense	probably null
IGL01973:Thap12	APN	7	98716499	missense	possibly damaging	0.58
IGL02404:Thap12	APN	7	98710133	missense	probably damaging	1.00
H8562:Thap12	UTSW	7	98715107	missense	probably damaging	0.98
PIT4453001:Thap12	UTSW	7	98715038	missense	probably benign	0.00
R0090:Thap12	UTSW	7	98715893	missense	probably damaging	1.00
R0254:Thap12	UTSW	7	98715281	missense	probably benign	0.03
R1344:Thap12	UTSW	7	98716830	missense	probably damaging	0.97
R1384:Thap12	UTSW	7	98703438	missense	probably damaging	0.98
R1418:Thap12	UTSW	7	98716830	missense	probably damaging	0.97
R1448:Thap12	UTSW	7	98716023	missense	probably benign	0.01
R1493:Thap12	UTSW	7	98715438	missense	probably benign	0.30
R1906:Thap12	UTSW	7	98716740	missense	probably damaging	1.00
R1932:Thap12	UTSW	7	98716838	missense	possibly damaging	0.77
R1992:Thap12	UTSW	7	98716365	missense	possibly damaging	0.68
R2044:Thap12	UTSW	7	98716620	missense	probably damaging	1.00
R2092:Thap12	UTSW	7	98716449	missense	possibly damaging	0.70
R3850:Thap12	UTSW	7	98716663	missense	probably damaging	1.00
R4086:Thap12	UTSW	7	98716494	missense	possibly damaging	0.94
R4162:Thap12	UTSW	7	98710078	intron	probably benign
R4554:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4555:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4556:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4557:Thap12	UTSW	7	98715845	missense	probably benign	0.00
R4659:Thap12	UTSW	7	98710091	intron	probably benign
R4734:Thap12	UTSW	7	98715954	missense	probably damaging	0.98
R4734:Thap12	UTSW	7	98715955	nonsense	probably null
R5794:Thap12	UTSW	7	98716393	missense	probably benign	0.11
R5994:Thap12	UTSW	7	98716030	nonsense	probably null
R6298:Thap12	UTSW	7	98703405	missense	probably damaging	1.00
R6515:Thap12	UTSW	7	98707095	missense	probably damaging	0.97
R6624:Thap12	UTSW	7	98715586	nonsense	probably null
R6625:Thap12	UTSW	7	98716070	missense	probably benign	0.00
R6965:Thap12	UTSW	7	98715462	missense	probably damaging	1.00
R7560:Thap12	UTSW	7	98710231	missense	probably damaging	0.99
R8713:Thap12	UTSW	7	98707076	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- ATTGGAGACGTGATTCCTGTAG -3'
(R):5'- TCCCTGTGAGACGCAGAATAAC -3'

Sequencing Primer
(F):5'- CCTGTAGACTTGATAGCTCATGGAAG -3'
(R):5'- ACGCAGAATAACTTGGATAAACTG -3'

Posted On

2014-10-01