Mutagenetix > Incidental Mutation

Incidental Mutation 'R5794:Thap12'

447121

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

043385-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98716393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 589 (D589E)

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: D589E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: D589E

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	T	C	11: 20,726,955		probably null	Het
Ank2	T	C	3: 126,930,020	N923S	probably benign	Het
Ano6	A	T	15: 95,894,524	T76S	probably benign	Het
Carmil1	G	T	13: 24,092,550	N204K	probably damaging	Het
Cep126	T	G	9: 8,103,439	N190T	possibly damaging	Het
Clasrp	A	T	7: 19,591,109	D198E	probably damaging	Het
Cma1	T	C	14: 55,944,520	T18A	probably benign	Het
Ece1	A	G	4: 137,956,533	I565M	probably damaging	Het
Etl4	T	A	2: 20,806,512	F1135L	probably damaging	Het
Fbxw20	T	C	9: 109,223,290	N325S	probably damaging	Het
Fbxw20	A	T	9: 109,233,600	C53S	possibly damaging	Het
Gnb2	T	C	5: 137,528,699	D203G	probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hoxd9	T	A	2: 74,699,273	F291Y	probably damaging	Het
Igf2r	T	C	17: 12,709,445	S1004G	probably benign	Het
Irgm1	T	C	11: 48,866,237	Y249C	probably damaging	Het
Kcnh3	A	C	15: 99,232,974	I491L	probably benign	Het
Kctd10	G	A	5: 114,367,337	R199W	probably damaging	Het
Klk1b4	A	T	7: 44,209,645	N29I	probably damaging	Het
Klrc1	C	T	6: 129,675,354	R188Q	probably damaging	Het
Krt32	C	A	11: 100,084,986	C275F	probably damaging	Het
Krt73	T	A	15: 101,794,829	T449S	probably benign	Het
Napepld	T	A	5: 21,683,431	S7C	possibly damaging	Het
Nfia	G	T	4: 97,783,601	V183L	possibly damaging	Het
Olfr788	A	C	10: 129,473,426	I245L	possibly damaging	Het
Olfr996	T	C	2: 85,579,341	V34A	probably benign	Het
Psma3	A	G	12: 70,990,497	T111A	probably benign	Het
Psmd11	T	A	11: 80,471,492	D125E	probably benign	Het
Rabgap1	T	A	2: 37,502,902	D523E	probably benign	Het
Rttn	G	T	18: 88,995,569	R454L	probably benign	Het
Serpine2	T	C	1: 79,821,439	N33D	probably benign	Het
Six4	A	T	12: 73,112,350	S271T	possibly damaging	Het
Smoc2	T	A	17: 14,369,048	C260S	possibly damaging	Het
Snai2	A	T	16: 14,706,726	Y32F	probably benign	Het
Tapt1	C	T	5: 44,177,134	G505D	probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r116	T	C	17: 23,385,968	I85T	probably damaging	Het
Zfp592	G	T	7: 81,025,033	V582L	probably benign	Het
Zfp827	T	C	8: 79,070,442	W386R	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
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
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'- AGTTTTGGTTTGAGGAAGCCAC -3'
(R):5'- AGGGCTTCATAAATGGTGGAC -3'

Sequencing Primer
(F):5'- TGGTTTGAGGAAGCCACAAATTTAGC -3'
(R):5'- GACGGGAGCTCGATATCTTTCC -3'

Posted On

2016-12-15