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

2900052B10Rik, Dap4, Prkrir

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9467 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98352310-98367269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98359348 bp (GRCm39)

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
4933409G03Rik	A	C	2: 68,423,934 (GRCm39)	M46L		Het
Aars2	A	G	17: 45,827,410 (GRCm39)	E484G	probably benign	Het
Abcd2	C	T	15: 91,075,825 (GRCm39)		probably benign	Het
Acap2	A	G	16: 30,929,901 (GRCm39)	S361P	possibly damaging	Het
Arap2	T	C	5: 62,887,900 (GRCm39)	E482G	probably benign	Het
Axin2	G	T	11: 108,833,782 (GRCm39)	L576F	possibly damaging	Het
B4galt2	T	A	4: 117,738,123 (GRCm39)	Y161F	probably damaging	Het
Cdh3	A	T	8: 107,266,425 (GRCm39)		probably null	Het
Cfap61	A	T	2: 145,971,149 (GRCm39)	I920F	probably benign	Het
Chaf1b	T	C	16: 93,681,394 (GRCm39)	I4T	probably benign	Het
Clptm1	T	C	7: 19,371,449 (GRCm39)	N328S	probably benign	Het
Cthrc1	A	G	15: 38,947,689 (GRCm39)	N136S	probably benign	Het
Dlec1	G	T	9: 118,971,652 (GRCm39)	R1279L	probably damaging	Het
Dnah5	A	T	15: 28,366,293 (GRCm39)	T2669S	possibly damaging	Het
Efcab14	C	A	4: 115,610,208 (GRCm39)	L190I	probably damaging	Het
Eml6	A	T	11: 29,769,076 (GRCm39)	C690S	probably damaging	Het
Fignl1	T	C	11: 11,751,483 (GRCm39)	E524G	probably damaging	Het
Fmo4	A	G	1: 162,631,238 (GRCm39)	V243A	probably benign	Het
Ghr	A	G	15: 3,357,506 (GRCm39)	V254A	probably benign	Het
Igkv8-28	A	G	6: 70,120,691 (GRCm39)	V84A	probably damaging	Het
Itgb7	T	C	15: 102,131,989 (GRCm39)	D198G	probably damaging	Het
Klra2	A	G	6: 131,197,070 (GRCm39)		probably null	Het
Klrc2	A	T	6: 129,633,363 (GRCm39)	Y230N	probably damaging	Het
Lacc1	A	G	14: 77,267,024 (GRCm39)	V413A	probably damaging	Het
Muc16	T	C	9: 18,508,331 (GRCm39)	N6355S	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ncor1	CTG	CTGGTG	11: 62,324,448 (GRCm39)		probably benign	Het
Ndn	A	G	7: 61,998,903 (GRCm39)	K250E	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nt5e	A	G	9: 88,249,416 (GRCm39)	E450G	probably benign	Het
Or4d6	A	T	19: 12,086,313 (GRCm39)	M199K	possibly damaging	Het
Or5p75-ps1	T	A	7: 108,107,790 (GRCm39)	*176K	probably null	Het
Or8k16	G	T	2: 85,520,626 (GRCm39)	M284I		Het
Palld	A	G	8: 61,968,264 (GRCm39)	S1343P	unknown	Het
Pcdha8	T	A	18: 37,126,843 (GRCm39)	S442T	possibly damaging	Het
Pole2	T	C	12: 69,255,719 (GRCm39)	I349V	probably benign	Het
Ptprb	C	T	10: 116,158,390 (GRCm39)	T487M	probably benign	Het
Ptprc	C	T	1: 137,993,960 (GRCm39)	D1020N	probably damaging	Het
Relch	C	T	1: 105,669,039 (GRCm39)	T1023I	probably damaging	Het
Rnf26rt	C	T	6: 76,473,615 (GRCm39)	E334K	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,571,490 (GRCm39)	N4916S	possibly damaging	Het
Selp	C	T	1: 163,957,674 (GRCm39)	P268S	probably damaging	Het
Sema7a	T	A	9: 57,864,608 (GRCm39)	C333S	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	CAGCCACGGGGACCAGCT	CAGCCACGGGGACCAGCTAAGCCACGGGGACCAGCT	7: 126,066,754 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shisa5	G	A	9: 108,867,712 (GRCm39)		probably benign	Het
Snx27	A	G	3: 94,489,723 (GRCm39)	V45A	possibly damaging	Het
Srcap	T	C	7: 127,139,531 (GRCm39)	V1284A	probably damaging	Het
Ssrp1	A	G	2: 84,872,610 (GRCm39)	D416G	probably damaging	Het
Tcstv1b	C	T	13: 120,634,061 (GRCm39)		probably benign	Het
Tectb	A	G	19: 55,181,093 (GRCm39)	Y144C		Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Tsg101	A	G	7: 46,558,772 (GRCm39)	Y80H	probably benign	Het
Unc5cl	T	A	17: 48,770,656 (GRCm39)	M368K	probably damaging	Het
Utp20	G	T	10: 88,640,390 (GRCm39)	Q717K	possibly damaging	Het
Vmn1r159	T	A	7: 22,542,141 (GRCm39)	D297V	possibly damaging	Het
Vmn2r98	G	T	17: 19,287,517 (GRCm39)	S450I	probably benign	Het
Zbtb8b	T	C	4: 129,326,319 (GRCm39)	E282G	probably benign	Het
Zfp831	T	C	2: 174,486,789 (GRCm39)	V488A	probably benign	Het
Zng1	T	A	19: 24,930,684 (GRCm39)	M122L	possibly damaging	Het
Zzef1	G	A	11: 72,807,251 (GRCm39)	V2710I	probably damaging	Het

Other mutations in Thap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Thap12	APN	7	98,365,344 (GRCm39)	missense	possibly damaging	0.82
IGL01145:Thap12	APN	7	98,362,110 (GRCm39)	makesense	probably null
IGL01973:Thap12	APN	7	98,365,706 (GRCm39)	missense	possibly damaging	0.58
IGL02404:Thap12	APN	7	98,359,340 (GRCm39)	missense	probably damaging	1.00
H8562:Thap12	UTSW	7	98,364,314 (GRCm39)	missense	probably damaging	0.98
PIT4453001:Thap12	UTSW	7	98,364,245 (GRCm39)	missense	probably benign	0.00
R0090:Thap12	UTSW	7	98,365,100 (GRCm39)	missense	probably damaging	1.00
R0254:Thap12	UTSW	7	98,364,488 (GRCm39)	missense	probably benign	0.03
R1344:Thap12	UTSW	7	98,366,037 (GRCm39)	missense	probably damaging	0.97
R1384:Thap12	UTSW	7	98,352,645 (GRCm39)	missense	probably damaging	0.98
R1418:Thap12	UTSW	7	98,366,037 (GRCm39)	missense	probably damaging	0.97
R1448:Thap12	UTSW	7	98,365,230 (GRCm39)	missense	probably benign	0.01
R1493:Thap12	UTSW	7	98,364,645 (GRCm39)	missense	probably benign	0.30
R1906:Thap12	UTSW	7	98,365,947 (GRCm39)	missense	probably damaging	1.00
R1932:Thap12	UTSW	7	98,366,045 (GRCm39)	missense	possibly damaging	0.77
R1992:Thap12	UTSW	7	98,365,572 (GRCm39)	missense	possibly damaging	0.68
R2044:Thap12	UTSW	7	98,365,827 (GRCm39)	missense	probably damaging	1.00
R2092:Thap12	UTSW	7	98,365,656 (GRCm39)	missense	possibly damaging	0.70
R2160:Thap12	UTSW	7	98,359,333 (GRCm39)	missense	probably damaging	0.97
R3850:Thap12	UTSW	7	98,365,870 (GRCm39)	missense	probably damaging	1.00
R4086:Thap12	UTSW	7	98,365,701 (GRCm39)	missense	possibly damaging	0.94
R4162:Thap12	UTSW	7	98,359,285 (GRCm39)	intron	probably benign
R4554:Thap12	UTSW	7	98,365,052 (GRCm39)	missense	probably benign	0.00
R4555:Thap12	UTSW	7	98,365,052 (GRCm39)	missense	probably benign	0.00
R4556:Thap12	UTSW	7	98,365,052 (GRCm39)	missense	probably benign	0.00
R4557:Thap12	UTSW	7	98,365,052 (GRCm39)	missense	probably benign	0.00
R4659:Thap12	UTSW	7	98,359,298 (GRCm39)	intron	probably benign
R4734:Thap12	UTSW	7	98,365,162 (GRCm39)	nonsense	probably null
R4734:Thap12	UTSW	7	98,365,161 (GRCm39)	missense	probably damaging	0.98
R5794:Thap12	UTSW	7	98,365,600 (GRCm39)	missense	probably benign	0.11
R5994:Thap12	UTSW	7	98,365,237 (GRCm39)	nonsense	probably null
R6298:Thap12	UTSW	7	98,352,612 (GRCm39)	missense	probably damaging	1.00
R6515:Thap12	UTSW	7	98,356,302 (GRCm39)	missense	probably damaging	0.97
R6624:Thap12	UTSW	7	98,364,793 (GRCm39)	nonsense	probably null
R6625:Thap12	UTSW	7	98,365,277 (GRCm39)	missense	probably benign	0.00
R6965:Thap12	UTSW	7	98,364,669 (GRCm39)	missense	probably damaging	1.00
R7560:Thap12	UTSW	7	98,359,438 (GRCm39)	missense	probably damaging	0.99
R8182:Thap12	UTSW	7	98,365,584 (GRCm39)	missense	probably damaging	1.00
R8713:Thap12	UTSW	7	98,356,283 (GRCm39)	missense	probably benign	0.30
R8897:Thap12	UTSW	7	98,364,534 (GRCm39)	missense	probably benign	0.38
R9099:Thap12	UTSW	7	98,364,600 (GRCm39)	missense	probably damaging	1.00
R9260:Thap12	UTSW	7	98,356,280 (GRCm39)	nonsense	probably null
R9339:Thap12	UTSW	7	98,364,323 (GRCm39)	missense	possibly damaging	0.95
R9644:Thap12	UTSW	7	98,364,495 (GRCm39)	missense	probably damaging	0.97
R9789:Thap12	UTSW	7	98,352,592 (GRCm39)	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