Mutagenetix > Incidental Mutations

Incidental Mutation 'R1344:Thap12'

200731

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

039409-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R1344 (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 98716830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 735 (D735G)

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: D735G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: D735G

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

Meta Mutation Damage Score

0.3309

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Aco1	T	C	4: 40,179,008	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Asxl2	A	G	12: 3,493,790	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
B4galnt2	A	C	11: 95,869,355	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,876,327	I191T	probably benign	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cd109	A	T	9: 78,672,550		probably null	Het
Cdc34	G	A	10: 79,685,300	A128T	probably damaging	Het
Cdk12	T	A	11: 98,241,785	S1013R	unknown	Het
Cntd1	T	A	11: 101,285,740	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,344,870		probably null	Het
Col12a1	T	A	9: 79,699,555	K529*	probably null	Het
Col17a1	T	A	19: 47,671,505	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,238,738	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,405,905		probably null	Het
Dcun1d3	A	G	7: 119,857,935	F185L	probably damaging	Het
Dlec1	G	A	9: 119,130,017	E910K	probably benign	Het
Dnajc19	T	A	3: 34,058,012	N128I	probably damaging	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Eea1	G	A	10: 95,994,999		probably null	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Extl1	T	C	4: 134,359,241	D501G	probably damaging	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fam198a	A	T	9: 121,978,386	H532L	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Fxr2	A	G	11: 69,648,884	H247R	possibly damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm21671	T	A	5: 25,953,109	T82S	probably benign	Het
Gm6614	A	G	6: 141,985,618	S474P	probably damaging	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Helz2	T	C	2: 181,237,596	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Ifitm1	C	T	7: 140,968,350	T32M	probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Lrit2	A	G	14: 37,068,556	N64S	probably benign	Het
Lsm14a	A	T	7: 34,353,557	D322E	probably damaging	Het
Macf1	T	G	4: 123,433,453	R4752S	probably damaging	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,308,319	T1360S	probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Myh3	A	G	11: 67,092,332	E895G	probably benign	Het
Ncan	A	C	8: 70,108,169	I716R	probably benign	Het
Ncor2	C	T	5: 125,025,446	R1867K	probably damaging	Het
Oas1d	C	T	5: 120,914,896	L5F	probably damaging	Het
Olfr399	A	T	11: 74,054,212	C182*	probably null	Het
Olfr45	T	C	7: 140,691,799	V298A	probably damaging	Het
Olfr747	T	A	14: 50,680,858	M259L	probably benign	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,295,657	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,361,767	I27V	probably benign	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Piezo2	T	A	18: 63,021,254	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plscr1	C	T	9: 92,259,304	T15I	unknown	Het
Rd3	T	C	1: 191,985,301	*106R	probably null	Het
Rnf125	A	G	18: 20,981,231	I97V	possibly damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Sf3b3	G	C	8: 110,838,303	A291G	probably damaging	Het
Simc1	T	C	13: 54,550,479	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slitrk5	A	G	14: 111,680,389	S482G	probably benign	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Stoml2	T	A	4: 43,028,197	I344F	probably benign	Het
Tet1	C	T	10: 62,814,521	R1636H	probably damaging	Het
Tnip3	T	C	6: 65,597,429	V88A	probably benign	Het
Ttn	A	G	2: 76,735,411	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,418,575	F989S	probably damaging	Het
Ubox5	A	G	2: 130,600,290	L159P	probably damaging	Het
Uevld	A	T	7: 46,938,010	V314E	possibly damaging	Het
Uhrf1bp1	A	G	17: 27,894,577	K1241R	probably benign	Het
Urb1	T	C	16: 90,769,466	M1478V	probably damaging	Het
Ust	C	A	10: 8,298,190	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,588,098	C421Y	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
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
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'- TGCTGAAGGTCCTGTGTATTCTCCC -3'
(R):5'- TGGCACTCCTAATGCCAACTTCTG -3'

Sequencing Primer
(F):5'- CTCCCTGTGATGAAAGTTGAGAATG -3'
(R):5'- GTTCAAACAGGGGCCATTTAAAC -3'

Posted On

2014-05-23