Mutagenetix > Incidental Mutation

Incidental Mutation 'R2092:Thap12'

231839

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

2900052B10Rik, Dap4, Prkrir

MMRRC Submission

040097-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98352310-98367269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98365656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 608 (V608A)

Ref Sequence

ENSEMBL: ENSMUSP00000033009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]

AlphaFold

Q9CUX1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033009
AA Change: V608A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V608A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,651,896 (GRCm39)	C1321*	probably null	Het
Abca8b	A	G	11: 109,857,534 (GRCm39)	F673L	possibly damaging	Het
Adam19	T	G	11: 45,951,731 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,024,041 (GRCm39)	T313A	possibly damaging	Het
Akap13	A	T	7: 75,260,318 (GRCm39)	I178F	probably benign	Het
Alb	G	GA	5: 90,611,842 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,988,860 (GRCm39)	S416P	probably damaging	Het
Casr	A	T	16: 36,330,405 (GRCm39)	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,131,737 (GRCm39)	N152S	probably benign	Het
Chrdl2	T	A	7: 99,670,184 (GRCm39)	C102*	probably null	Het
Col4a4	G	A	1: 82,476,667 (GRCm39)	S554L	unknown	Het
Col6a4	T	C	9: 105,937,530 (GRCm39)	K1392R	probably damaging	Het
Dab1	T	G	4: 104,535,974 (GRCm39)	Y128D	probably damaging	Het
Dars1	A	T	1: 128,301,755 (GRCm39)	M293K	probably damaging	Het
Dlec1	T	C	9: 118,950,912 (GRCm39)	F493L	possibly damaging	Het
Dmbt1	G	T	7: 130,651,748 (GRCm39)	W330L	probably damaging	Het
Dnah11	A	T	12: 117,976,451 (GRCm39)	M831K	possibly damaging	Het
Dock7	T	C	4: 98,897,545 (GRCm39)	N715S	possibly damaging	Het
Edc4	T	A	8: 106,614,160 (GRCm39)	L12Q	probably damaging	Het
Edem2	T	C	2: 155,550,969 (GRCm39)	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fto	C	A	8: 92,136,315 (GRCm39)	Y194*	probably null	Het
Gnptab	T	G	10: 88,276,167 (GRCm39)	Y1151*	probably null	Het
Grm1	A	G	10: 10,564,969 (GRCm39)	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,275,614 (GRCm39)	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,549,427 (GRCm39)	D70G	probably damaging	Het
Irx4	C	A	13: 73,413,605 (GRCm39)	T25K	probably damaging	Het
Kif22	C	T	7: 126,632,802 (GRCm39)	D195N	probably damaging	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Lyz1	C	T	10: 117,124,504 (GRCm39)	R144Q	probably benign	Het
Macf1	T	A	4: 123,276,971 (GRCm39)	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myh9	G	A	15: 77,648,550 (GRCm39)	Q80*	probably null	Het
Myo6	G	T	9: 80,152,964 (GRCm39)	R199L	probably damaging	Het
Naglu	G	A	11: 100,967,546 (GRCm39)	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,869,465 (GRCm39)	F140S	probably benign	Het
Or4p8	A	G	2: 88,727,611 (GRCm39)	F110S	probably damaging	Het
Or52ab7	G	A	7: 102,978,316 (GRCm39)	V208M	probably damaging	Het
Or52z1	A	T	7: 103,437,279 (GRCm39)	F68L	possibly damaging	Het
Or5b102	T	A	19: 13,041,166 (GRCm39)	Y130*	probably null	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,485 (GRCm39)	L82Q	probably damaging	Het
Otop1	A	T	5: 38,457,110 (GRCm39)	I290F	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,547,240 (GRCm39)	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,729,616 (GRCm39)	H423R	probably benign	Het
Ptk2	A	T	15: 73,108,040 (GRCm39)	Y56*	probably null	Het
Rapgef3	T	C	15: 97,658,604 (GRCm39)	D134G	probably damaging	Het
Scaf11	A	C	15: 96,313,708 (GRCm39)	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,363,720 (GRCm39)	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,858,002 (GRCm39)	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,870,950 (GRCm39)	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,704,610 (GRCm39)	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,948,614 (GRCm39)	D555E	probably benign	Het
Smc5	T	C	19: 23,216,263 (GRCm39)	I446V	probably benign	Het
St6gal2	T	C	17: 55,817,267 (GRCm39)	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,000,141 (GRCm39)	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,121,340 (GRCm39)	L187P	probably damaging	Het
Tg	A	G	15: 66,721,456 (GRCm39)	I322V	probably null	Het
Tmbim6	T	C	15: 99,299,949 (GRCm39)	S22P	probably damaging	Het
Ttc3	C	T	16: 94,243,691 (GRCm39)	P1232S	probably benign	Het
Upk3a	A	G	15: 84,902,286 (GRCm39)	T38A	probably damaging	Het
Utrn	A	T	10: 12,554,442 (GRCm39)	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,534,578 (GRCm39)	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,538,885 (GRCm39)	T35A	possibly damaging	Het
Xkr7	C	T	2: 152,895,983 (GRCm39)	S279L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp641	G	T	15: 98,191,593 (GRCm39)	T31N	probably benign	Het
Zfp74	G	A	7: 29,653,349 (GRCm39)		probably benign	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
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
R9467:Thap12	UTSW	7	98,359,348 (GRCm39)	missense	probably damaging	0.99
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'- AGTTTTGGTTTGAGGAAGCCAC -3'
(R):5'- ATGGAGGGCTTCATAAATGGTG -3'

Sequencing Primer
(F):5'- TGAAACTCCCAGGGAAGTTCCG -3'
(R):5'- GGACGGGAGCTCGATATCTTTCC -3'

Posted On

2014-09-18