Mutagenetix > Incidental Mutations

Incidental Mutation 'R9099:Thap12'

691540

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R9099 (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 C at 98715393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 256 (F256S)

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: F256S

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

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: F256S

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,980,882	M90K	probably damaging	Het
Actn2	T	C	13: 12,288,630	D428G	probably damaging	Het
Arrb1	T	C	7: 99,594,629	V262A	probably damaging	Het
Bok	A	G	1: 93,694,939	I102V		Het
C87436	T	A	6: 86,462,585	F419L	probably damaging	Het
Capn15	A	G	17: 25,973,167	C34R	probably benign	Het
Ccdc8	T	A	7: 16,994,875	Y96*	probably null	Het
Cd274	T	A	19: 29,380,371	C154*	probably null	Het
Ckap4	A	T	10: 84,533,538	L110Q	probably damaging	Het
Col26a1	A	T	5: 136,748,348	D335E	probably benign	Het
Crybg1	C	T	10: 43,998,848	V755I	probably benign	Het
Dhx38	A	T	8: 109,556,151	Y628N	probably damaging	Het
Dnah12	A	T	14: 26,770,368	K1155M	probably benign	Het
Ei24	A	G	9: 36,785,974	F153L	probably damaging	Het
Erg	T	A	16: 95,377,329	E246D	probably benign	Het
Exoc6b	T	C	6: 85,005,018	N99D	possibly damaging	Het
Fam222b	G	T	11: 78,155,194	R527L	probably damaging	Het
Fam83h	T	C	15: 76,003,286	Y734C	probably damaging	Het
Fbxo43	T	C	15: 36,162,473	E196G	possibly damaging	Het
Gata5	G	A	2: 180,334,338	P11L	possibly damaging	Het
Gbp3	A	T	3: 142,565,287	S151C	probably benign	Het
Gli3	T	C	13: 15,726,735	L1569P	probably damaging	Het
Helz	G	A	11: 107,632,215	V742M	probably damaging	Het
Ifi27l2b	A	T	12: 103,451,855	N175K	unknown	Het
Itga1	A	T	13: 115,049,320	Y49N	probably damaging	Het
Kcnk2	T	C	1: 189,258,875	T167A	probably damaging	Het
Kirrel2	T	A	7: 30,448,217	T669S	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Lrit2	A	T	14: 37,068,855	T164S	possibly damaging	Het
Lrriq1	A	G	10: 103,216,003	V296A	probably damaging	Het
Malsu1	C	T	6: 49,073,797		probably benign	Het
Moxd1	G	A	10: 24,279,864	V289I	probably damaging	Het
Nfs1	C	T	2: 156,127,014	G380E	probably damaging	Het
Nol4l	C	A	2: 153,470,710	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543		probably null	Het
Nup98	T	A	7: 102,194,966	N54I	probably damaging	Het
Olfr836	C	T	9: 19,121,594	P210L	probably benign	Het
Olfr936	A	T	9: 39,046,730	C230S	probably benign	Het
Olfr968	A	G	9: 39,772,218	I194T		Het
Otoa	T	A	7: 121,139,832	F755I	probably benign	Het
P4htm	A	T	9: 108,583,712	M187K	probably benign	Het
Phldb3	C	T	7: 24,624,302	R453C	probably benign	Het
Pkd1l1	C	T	11: 8,972,986	A94T		Het
Pkp1	A	G	1: 135,877,691	F669S	probably benign	Het
Prl8a2	C	G	13: 27,352,810	Y138*	probably null	Het
Prl8a2	T	A	13: 27,352,811	Y139N	probably benign	Het
Rtn4r	T	A	16: 18,151,204	N165K	probably benign	Het
Scaper	G	T	9: 55,762,332	D353E	probably damaging	Het
Scn4a	G	T	11: 106,320,174	D1672E	probably damaging	Het
She	A	G	3: 89,831,771	S90G	probably benign	Het
Shmt2	A	T	10: 127,520,093	D130E	possibly damaging	Het
Slc2a12	T	A	10: 22,694,024	I538K	possibly damaging	Het
Snx29	T	A	16: 11,660,571	W322R	probably damaging	Het
Spp1	A	G	5: 104,440,521	D263G	probably benign	Het
Srek1ip1	T	C	13: 104,837,456	S124P	possibly damaging	Het
Tcp10b	C	T	17: 13,061,769		probably benign	Het
Tpte	T	C	8: 22,355,481	Y516H		Het
Trem1	C	A	17: 48,237,243	Q99K	possibly damaging	Het
Umodl1	C	T	17: 30,959,173	P41L	probably benign	Het
Upp2	T	C	2: 58,567,530		probably null	Het
Zfand1	A	T	3: 10,341,088	M181K	probably damaging	Het
Zfp292	T	C	4: 34,809,228	E1277G	possibly damaging	Het
Zfp458	G	T	13: 67,257,632	P248T	probably damaging	Het
Zfp667	T	A	7: 6,305,323	M330K	probably benign	Het
Zfp827	A	G	8: 79,190,478	T561A		Het
Zfp947	C	T	17: 22,145,874	G273D	probably benign	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
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
R9260:Thap12	UTSW	7	98707073	nonsense	probably null
R9339:Thap12	UTSW	7	98715116	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTGCCCCAGACAACTTCCAG -3'
(R):5'- GGACACAATGTAAGCCTGACC -3'

Sequencing Primer
(F):5'- GACAACTTCCAGGCGCTC -3'
(R):5'- ATGTAAGCCTGACCACGAC -3'

Posted On

2021-12-30