Mutagenetix > Incidental Mutation

Incidental Mutation 'R9467:Thap12'

715208

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98710141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 76 (V76F)

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: V76F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V76F

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 damaging
Transcript: ENSMUST00000153566
AA Change: V76F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: V76F

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,741,314	T1023I	probably damaging	Het
4933409G03Rik	A	C	2: 68,593,590	M46L		Het
Aars2	A	G	17: 45,516,484	E484G	probably benign	Het
Abcd2	C	T	15: 91,191,622		probably benign	Het
Acap2	A	G	16: 31,111,083	S361P	possibly damaging	Het
Arap2	T	C	5: 62,730,557	E482G	probably benign	Het
Axin2	G	T	11: 108,942,956	L576F	possibly damaging	Het
B4galt2	T	A	4: 117,880,926	Y161F	probably damaging	Het
Cbwd1	T	A	19: 24,953,320	M122L	possibly damaging	Het
Cdh3	A	T	8: 106,539,793		probably null	Het
Cfap61	A	T	2: 146,129,229	I920F	probably benign	Het
Chaf1b	T	C	16: 93,884,506	I4T	probably benign	Het
Clptm1	T	C	7: 19,637,524	N328S	probably benign	Het
Cthrc1	A	G	15: 39,084,294	N136S	probably benign	Het
Dlec1	G	T	9: 119,142,584	R1279L	probably damaging	Het
Dnah5	A	T	15: 28,366,147	T2669S	possibly damaging	Het
Efcab14	C	A	4: 115,753,011	L190I	probably damaging	Het
Eml6	A	T	11: 29,819,076	C690S	probably damaging	Het
Fignl1	T	C	11: 11,801,483	E524G	probably damaging	Het
Fmo4	A	G	1: 162,803,669	V243A	probably benign	Het
Ghr	A	G	15: 3,328,024	V254A	probably benign	Het
Gm21818	C	T	13: 120,172,525		probably benign	Het
Gm9008	C	T	6: 76,496,632	E334K	probably benign	Het
Igkv8-28	A	G	6: 70,143,707	V84A	probably damaging	Het
Itgb7	T	C	15: 102,223,554	D198G	probably damaging	Het
Klra2	A	G	6: 131,220,107		probably null	Het
Klrc2	A	T	6: 129,656,400	Y230N	probably damaging	Het
Lacc1	A	G	14: 77,029,584	V413A	probably damaging	Het
Muc16	T	C	9: 18,597,035	N6355S	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTGCTG	11: 62,433,611		probably benign	Het
Ncor1	CTG	CTGGTG	11: 62,433,622		probably benign	Het
Ndn	A	G	7: 62,349,155	K250E	possibly damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nt5e	A	G	9: 88,367,363	E450G	probably benign	Het
Olfr1008	G	T	2: 85,690,282	M284I		Het
Olfr1428	A	T	19: 12,108,949	M199K	possibly damaging	Het
Olfr501-ps1	T	A	7: 108,508,583	*176K	probably null	Het
Palld	A	G	8: 61,515,230	S1343P	unknown	Het
Pcdha8	T	A	18: 36,993,790	S442T	possibly damaging	Het
Pole2	T	C	12: 69,208,945	I349V	probably benign	Het
Ptprb	C	T	10: 116,322,485	T487M	probably benign	Het
Ptprc	C	T	1: 138,066,222	D1020N	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Ryr2	T	C	13: 11,556,604	N4916S	possibly damaging	Het
Selp	C	T	1: 164,130,105	P268S	probably damaging	Het
Sema7a	T	A	9: 57,957,325	C333S	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	CAGCCACGGGGACCAGCT	CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT	7: 126,467,582		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Shisa5	G	A	9: 109,038,644		probably benign	Het
Snx27	A	G	3: 94,582,416	V45A	possibly damaging	Het
Srcap	T	C	7: 127,540,359	V1284A	probably damaging	Het
Ssrp1	A	G	2: 85,042,266	D416G	probably damaging	Het
Tectb	A	G	19: 55,192,661	Y144C		Het
Ticam2	G	C	18: 46,560,681	P113R	probably damaging	Het
Tsg101	A	G	7: 46,909,024	Y80H	probably benign	Het
Unc5cl	T	A	17: 48,463,628	M368K	probably damaging	Het
Utp20	G	T	10: 88,804,528	Q717K	possibly damaging	Het
Vmn1r159	T	A	7: 22,842,716	D297V	possibly damaging	Het
Vmn2r98	G	T	17: 19,067,255	S450I	probably benign	Het
Zbtb8b	T	C	4: 129,432,526	E282G	probably benign	Het
Zfp831	T	C	2: 174,644,996	V488A	probably benign	Het
Zzef1	G	A	11: 72,916,425	V2710I	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
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
R8182:Thap12	UTSW	7	98716377	missense	probably damaging	1.00
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
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'- TAGACTTGATAGCTCATGGAAGGG -3'
(R):5'- AGCACTCATTTCCCTGCACG -3'

Sequencing Primer
(F):5'- TTGATAGCTCATGGAAGGGCAGAAC -3'
(R):5'- TCCCTGTGAGACGCAGAATAACTTG -3'

Posted On

2022-06-15