Mutagenetix > Incidental Mutations

Incidental Mutation 'R1493:Thap12'

165545

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

039544-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1493 (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 98715438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 271 (H271R)

Ref Sequence

ENSEMBL: ENSMUSP00000033009 (fasta)

Gene Model

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

AlphaFold

Q9CUX1

Predicted Effect

probably benign
Transcript: ENSMUST00000033009
AA Change: H271R

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: H271R

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208543

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,876,718	S14P	probably damaging	Het
Abca15	A	T	7: 120,382,290	D989V	probably benign	Het
Abcg8	T	C	17: 84,696,679	S472P	probably damaging	Het
Ablim2	T	C	5: 35,809,261	F178S	probably damaging	Het
Adprm	A	G	11: 67,041,876	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,608,365	S343L	probably benign	Het
Arfgef3	A	G	10: 18,630,879	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,797	E339D	probably benign	Het
Axdnd1	T	A	1: 156,346,701	M799L	probably benign	Het
Cars2	A	T	8: 11,517,817		probably null	Het
Cd7	T	C	11: 121,038,141	T95A	probably damaging	Het
Cep290	A	T	10: 100,562,181	T2200S	probably benign	Het
Cep44	A	G	8: 56,532,835	S299P	probably damaging	Het
Cfap58	C	T	19: 47,988,504	H731Y	probably damaging	Het
Ehbp1	T	A	11: 22,006,866	E1204V	probably damaging	Het
Fam129a	T	A	1: 151,706,090	V479D	probably damaging	Het
Fam208a	A	G	14: 27,449,969	S425G	probably damaging	Het
Fgd5	A	G	6: 91,987,631	K124E	probably benign	Het
Folh1	T	C	7: 86,761,730	D268G	probably damaging	Het
Gm4559	A	T	7: 142,274,313	C17*	probably null	Het
Gm9833	A	G	3: 10,088,884	K238E	probably damaging	Het
Helz	A	G	11: 107,613,925	I413V	probably benign	Het
Hexdc	A	G	11: 121,221,267	I438V	probably benign	Het
Hrh1	G	A	6: 114,480,877	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,832,874	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,627,442	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,846,905	S1124R	probably damaging	Het
Map3k5	A	G	10: 20,029,113	D387G	probably damaging	Het
Morc2a	A	G	11: 3,678,557	N337D	probably benign	Het
Musk	C	T	4: 58,354,003	A352V	probably benign	Het
Nans	G	A	4: 46,500,761	E218K	probably damaging	Het
Ninl	T	G	2: 150,980,095	D29A	probably damaging	Het
Nod1	A	G	6: 54,944,056	F426L	probably damaging	Het
Notch4	T	A	17: 34,567,682	C265*	probably null	Het
Nsd3	A	G	8: 25,713,380	D1307G	probably benign	Het
Olfr555	T	C	7: 102,659,013	L64P	probably damaging	Het
Olfr670	T	A	7: 104,960,502	T77S	probably damaging	Het
Orai3	G	A	7: 127,773,905	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,813,670	Y271C	probably benign	Het
Rfc4	T	C	16: 23,118,008	I116V	probably damaging	Het
Ric1	T	C	19: 29,579,849	Y445H	probably benign	Het
Rnmt	G	A	18: 68,313,707	D268N	probably damaging	Het
Rsph1	C	T	17: 31,265,899	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,961,812	P483Q	probably damaging	Het
Sgo2b	A	G	8: 63,926,855	L981P	probably damaging	Het
Shmt2	A	G	10: 127,518,943		probably null	Het
Sorbs3	T	C	14: 70,192,627	T353A	possibly damaging	Het
Stk25	T	C	1: 93,625,600	T260A	probably benign	Het
Tmprss13	A	G	9: 45,336,107	T256A	probably benign	Het
Tpo	A	T	12: 30,131,809	I29N	possibly damaging	Het
Trpc2	A	T	7: 102,090,576	N569I	probably damaging	Het
Unc13c	T	C	9: 73,639,068	T1607A	probably benign	Het
Vldlr	A	G	19: 27,241,291	N514S	probably benign	Het
Vps18	A	G	2: 119,297,132	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,314,040	I409F	probably damaging	Het
Zfp735	G	A	11: 73,710,479	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,364,756	S88P	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACAGCGGTCAACACATTATTC -3'
(R):5'- GCCAACCATGCATTTAAGGCACAG -3'

Sequencing Primer
(F):5'- CTGCTCTAAAACTCAGCAGAGG -3'
(R):5'- TTTGGAAGAAAATCCACTGGACAC -3'

Posted On

2014-03-28