Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Thap12'

541945

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98715462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 279 (V279D)

Ref Sequence

ENSEMBL: ENSMUSP00000033009 (fasta)

Gene Model

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

AlphaFold

Q9CUX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000033009
AA Change: V279D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V279D

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

probably benign
Transcript: ENSMUST00000153566

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,283,229	Q1205*	probably null	Het
Als2	A	G	1: 59,170,557	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,835,751	V68A	possibly damaging	Het
Atmin	T	C	8: 116,957,038	F479S	probably damaging	Het
Atp7b	T	C	8: 22,028,085	T234A	probably benign	Het
Bpifa1	G	A	2: 154,145,661	G144S	probably damaging	Het
Brf2	A	T	8: 27,124,558	M200K	probably benign	Het
C1ql2	G	A	1: 120,341,215	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,117,581	V269A	probably damaging	Het
Clcc1	T	C	3: 108,673,309	V313A	probably damaging	Het
Cntrl	A	T	2: 35,162,833	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533	E236K	probably damaging	Het
Comp	T	C	8: 70,376,514	L278P	probably damaging	Het
Dlg5	C	A	14: 24,149,430	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,279,475	V23D	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915	Y516C	probably damaging	Het
Esr2	T	C	12: 76,121,857	D526G	probably damaging	Het
Fam184b	T	C	5: 45,555,135	T514A	probably benign	Het
Fcmr	A	C	1: 130,875,987	E176A	possibly damaging	Het
Fry	T	A	5: 150,416,220	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,650,881	C156R	probably damaging	Het
Gm10031	C	T	1: 156,524,549	R107*	probably null	Het
Gm5431	T	C	11: 48,895,200	Y116C	probably benign	Het
Gm5493	T	A	17: 22,748,074	V61E	possibly damaging	Het
Golga4	A	T	9: 118,548,779	Q456L	probably damaging	Het
Gpam	T	C	19: 55,074,609	Y757C	probably damaging	Het
Iqcg	C	T	16: 33,030,804	A266T	probably benign	Het
Lta4h	G	T	10: 93,471,897	G331*	probably null	Het
Macf1	C	A	4: 123,408,745	V655F	probably benign	Het
Map3k13	T	A	16: 21,922,150	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,552,849	L43F	probably damaging	Het
N4bp1	T	C	8: 86,844,833	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863	I282T	probably benign	Het
Ncor1	C	T	11: 62,353,233		probably null	Het
Olfr1250	G	T	2: 89,656,665	P259T	probably damaging	Het
Olfr1426	A	G	19: 12,088,756	F12S	possibly damaging	Het
Olfr874	T	A	9: 37,746,137	M1K	probably null	Het
Pclo	A	G	5: 14,681,962		probably benign	Het
Pde9a	G	T	17: 31,443,887	V97L	probably benign	Het
Ptch1	T	C	13: 63,525,067	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,562,845	D94N	probably damaging	Het
Rnpep	T	A	1: 135,263,120	K602*	probably null	Het
Rph3al	T	C	11: 75,854,450	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,433,911	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,325,876	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,259,881	H459R	probably damaging	Het
Spata31	A	C	13: 64,922,834	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,723,129	A963T	probably damaging	Het
Syne1	A	T	10: 5,229,120	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 53,856,924		probably null	Het
Tmprss6	T	C	15: 78,444,128	D544G	probably damaging	Het
Tox2	A	G	2: 163,323,010	*523W	probably null	Het
Txnrd1	T	C	10: 82,881,818	I212T	probably benign	Het
Unc80	T	C	1: 66,646,566	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,835,674	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,591,022	T456I	probably benign	Het
Vmn2r79	T	A	7: 87,001,892	H166Q	probably benign	Het
Zer1	A	G	2: 30,101,047	V723A	possibly damaging	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
R2160:Thap12	UTSW	7	98710126	missense	probably damaging	0.97
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
R7560:Thap12	UTSW	7	98710231	missense	probably damaging	0.99
R8182:Thap12	UTSW	7	98716377	missense	probably damaging	1.00
R8713:Thap12	UTSW	7	98707076	missense	probably benign	0.30
R8897:Thap12	UTSW	7	98715327	missense	probably benign	0.38
R9099:Thap12	UTSW	7	98715393	missense	probably damaging	1.00
R9260:Thap12	UTSW	7	98707073	nonsense	probably null
R9339:Thap12	UTSW	7	98715116	missense	possibly damaging	0.95
R9467:Thap12	UTSW	7	98710141	missense	probably damaging	0.99
R9644:Thap12	UTSW	7	98715288	missense	probably damaging	0.97
R9789:Thap12	UTSW	7	98703385	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGGTCAACACATTATTCTGCTC -3'
(R):5'- ACAGACTTTGCCAACCATGC -3'

Sequencing Primer
(F):5'- TGCTCTAAAACTCAGCAGAGG -3'
(R):5'- TTGCCAACCATGCATTTAAGGC -3'

Posted On

2018-11-28