Mutagenetix > Incidental Mutations

Incidental Mutation 'R6625:Thap12'

524728

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R6625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98716070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 482 (V482I)

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: V482I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V482I

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

91% (30/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Apcdd1	C	A	18: 62,951,858	D375E	probably damaging	Het
Cacna2d1	A	T	5: 16,362,393	R984W	probably null	Het
Csmd3	T	G	15: 47,607,075	I3402L	probably benign	Het
Dnah7a	T	A	1: 53,565,757	T1281S	probably benign	Het
Dnmt3b	T	C	2: 153,665,313	I139T	probably benign	Het
Dtnbp1	T	C	13: 44,992,031	E40G	possibly damaging	Het
Fam162b	C	T	10: 51,590,295	G43R	probably damaging	Het
G2e3	T	G	12: 51,353,789		probably null	Het
Gm13119	T	A	4: 144,363,799	Y470N	probably damaging	Het
Gm3286	C	T	5: 95,521,483	H124Y	possibly damaging	Het
Kiss1r	G	A	10: 79,919,534	V118I	possibly damaging	Het
Mre11a	T	C	9: 14,805,391	M294T	possibly damaging	Het
Muc16	A	T	9: 18,660,278	V315D	unknown	Het
Nelfe	C	T	17: 34,854,358	P290S	probably benign	Het
Olfr1396	T	A	11: 49,113,069	Y219F	probably damaging	Het
Olfr1441	T	G	19: 12,422,841	H177Q	probably damaging	Het
Pcolce2	T	A	9: 95,678,439	C180*	probably null	Het
Piezo2	A	T	18: 63,021,262	V2482D	probably damaging	Het
Plagl1	T	C	10: 13,128,062		probably benign	Het
Ppp1r32	G	A	19: 10,481,736	P65L	probably damaging	Het
Prss48	G	T	3: 85,998,066	Q167K	probably benign	Het
Scyl1	C	A	19: 5,760,826	V488F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,422,594	L587Q	possibly damaging	Het
Sim1	A	G	10: 50,983,986	D648G	probably benign	Het
Snupn	G	A	9: 56,982,770	V292I	probably benign	Het
St6galnac1	T	C	11: 116,765,891	H474R	probably damaging	Het
Usp13	T	A	3: 32,894,876	V454D	probably damaging	Het
Usp40	T	C	1: 87,967,213	I862V	probably benign	Het
Vmn2r59	A	T	7: 42,043,753	F474L	probably benign	Het
Zbtb38	T	C	9: 96,687,313	R573G	probably damaging	Het
Zfp493	C	T	13: 67,786,395	Q156*	probably null	Het
Zfp873	C	A	10: 82,060,304	P290T	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTTCAGAATAGTGAAGAACGGGC -3'
(R):5'- AAATTTGTGGCTTCCTCAAACC -3'

Sequencing Primer
(F):5'- GAAATTTGTCATTCCCAGTGGACAGG -3'
(R):5'- TTTGTGGCTTCCTCAAACCAAAAC -3'

Posted On

2018-06-22