Mutagenetix > Incidental Mutation

Incidental Mutation 'R6298:Thap12'

508898

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

044408-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6298 (G1)

Quality Score

160.009

Status

Validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98703405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 6 (A6S)

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: A6S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: A6S

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 damaging
Transcript: ENSMUST00000126356
AA Change: A6S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753
AA Change: A6S

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: ENSMUST00000148776

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153566
AA Change: A6S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: A6S

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: ENSMUST00000208646

Meta Mutation Damage Score

0.3688

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	A	13: 98,984,466 (GRCm38)	R17S	probably benign	Het
Abtb2	A	T	2: 103,709,488 (GRCm38)	M733L	probably benign	Het
Acss3	G	A	10: 107,084,856 (GRCm38)	P131L	probably damaging	Het
Adgrv1	T	A	13: 81,391,767 (GRCm38)	I5678F	probably benign	Het
Aff1	C	T	5: 103,754,720 (GRCm38)	L6F	possibly damaging	Het
AI314180	T	G	4: 58,877,157 (GRCm38)	T93P	probably damaging	Het
Ank3	G	T	10: 69,850,176 (GRCm38)	R273L	probably damaging	Het
Anks1b	G	A	10: 90,680,837 (GRCm38)	G898D	probably damaging	Het
Anxa11	C	T	14: 25,872,734 (GRCm38)	P131S	unknown	Het
Ap4e1	T	A	2: 127,047,115 (GRCm38)	M500K	probably benign	Het
Bag3	T	C	7: 128,540,198 (GRCm38)	S138P	probably damaging	Het
Capn9	T	C	8: 124,617,454 (GRCm38)	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306 (GRCm38)	W236R	probably damaging	Het
Cdh23	A	T	10: 60,426,672 (GRCm38)	Y702*	probably null	Het
Chd1l	G	A	3: 97,587,167 (GRCm38)	A399V	probably damaging	Het
Cit	A	T	5: 115,948,065 (GRCm38)	E896V	probably damaging	Het
Cntln	T	A	4: 85,096,761 (GRCm38)	N1096K	probably damaging	Het
Cntnap5c	T	C	17: 58,104,752 (GRCm38)	C544R	probably damaging	Het
Csf1	A	T	3: 107,748,359 (GRCm38)	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,249,223 (GRCm38)	K294N	possibly damaging	Het
D430042O09Rik	T	C	7: 125,870,697 (GRCm38)	V1446A	probably benign	Het
Dcakd	T	G	11: 102,999,792 (GRCm38)	E56D	possibly damaging	Het
Dnah17	T	C	11: 118,108,161 (GRCm38)	I929V	probably benign	Het
Dnah2	G	T	11: 69,491,641 (GRCm38)	H1214Q	probably benign	Het
Dock9	T	C	14: 121,634,594 (GRCm38)	D536G	probably damaging	Het
Drc3	A	G	11: 60,393,770 (GRCm38)	N467S	possibly damaging	Het
Dysf	A	G	6: 84,107,136 (GRCm38)		probably null	Het
Evpl	A	T	11: 116,230,922 (GRCm38)	L378Q	probably damaging	Het
Fer1l4	A	T	2: 156,024,740 (GRCm38)	H1520Q	probably damaging	Het
Fhod1	A	T	8: 105,337,148 (GRCm38)		probably benign	Het
Gabra1	T	A	11: 42,182,378 (GRCm38)		probably benign	Het
Gm10549	C	A	18: 33,464,305 (GRCm38)		probably benign	Het
Gm14137	A	G	2: 119,175,091 (GRCm38)	T44A	possibly damaging	Het
Gm9833	T	C	3: 10,089,179 (GRCm38)	I336T	probably damaging	Het
Herc2	T	C	7: 56,191,265 (GRCm38)	M3444T	probably benign	Het
Igsf5	T	C	16: 96,396,448 (GRCm38)	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,125,085 (GRCm38)	L12P	possibly damaging	Het
Insrr	A	G	3: 87,812,965 (GRCm38)	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,568,675 (GRCm38)	A91V	probably benign	Het
Itga10	A	G	3: 96,656,762 (GRCm38)	T911A	probably benign	Het
Klhl30	A	T	1: 91,357,364 (GRCm38)	D314V	probably benign	Het
Lpcat1	T	C	13: 73,510,955 (GRCm38)	V330A	possibly damaging	Het
Nhlrc3	A	T	3: 53,452,523 (GRCm38)	D306E	possibly damaging	Het
Notum	T	A	11: 120,657,940 (GRCm38)	I187F	probably damaging	Het
Nphp3	T	C	9: 104,015,441 (GRCm38)	L288P	probably damaging	Het
Ntrk2	G	T	13: 58,871,756 (GRCm38)	E394*	probably null	Het
Olfr420	T	A	1: 174,152,182 (GRCm38)	V222D	probably benign	Het
Pbld2	A	G	10: 63,039,152 (GRCm38)	K63E	probably benign	Het
Phc2	T	C	4: 128,748,189 (GRCm38)	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,626,563 (GRCm38)	C249Y	probably damaging	Het
Plod1	G	A	4: 147,916,315 (GRCm38)		probably benign	Het
Plscr2	A	T	9: 92,290,719 (GRCm38)	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315 (GRCm38)	M215L	probably benign	Het
Prcp	G	T	7: 92,928,633 (GRCm38)	C370F	probably damaging	Het
Pter	A	G	2: 12,978,394 (GRCm38)	N70S	probably damaging	Het
Ptprt	G	T	2: 161,553,859 (GRCm38)	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,411,862 (GRCm38)	D8G	possibly damaging	Het
Rcn2	A	C	9: 56,052,925 (GRCm38)	K159Q	probably benign	Het
Rex2	T	A	4: 147,057,515 (GRCm38)	C153*	probably null	Het
Rps6ka2	T	C	17: 7,170,367 (GRCm38)	F8S	possibly damaging	Het
Samd9l	A	G	6: 3,375,383 (GRCm38)	L626S	probably damaging	Het
Sptb	A	G	12: 76,620,654 (GRCm38)		probably null	Het
Srgap3	A	T	6: 112,816,610 (GRCm38)	V135D	probably damaging	Het
Srsf7	T	C	17: 80,207,253 (GRCm38)		probably benign	Het
Tacc2	A	G	7: 130,626,525 (GRCm38)	T1647A	probably benign	Het
Tmem33	T	A	5: 67,268,551 (GRCm38)	L146*	probably null	Het
Trip13	C	A	13: 73,936,259 (GRCm38)	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,942,238 (GRCm38)	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,432,127 (GRCm38)	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,232,795 (GRCm38)	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,355,782 (GRCm38)	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,386,762 (GRCm38)	D216G	probably damaging	Het
Vwa3a	C	T	7: 120,795,651 (GRCm38)	T898I	probably benign	Het
Wdfy3	T	C	5: 101,968,946 (GRCm38)	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,273,122 (GRCm38)	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,656,737 (GRCm38)	I844T	probably damaging	Het
Zfp106	A	T	2: 120,522,704 (GRCm38)	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,413,979 (GRCm38)	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,256,806 (GRCm38)	H523L	probably damaging	Het
Zfp712	T	C	13: 67,041,329 (GRCm38)	H378R	probably damaging	Het
Zic1	T	C	9: 91,364,503 (GRCm38)	Y172C	probably damaging	Het

Other mutations in Thap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Thap12	APN	7	98,716,137 (GRCm38)	missense	possibly damaging	0.82
IGL01145:Thap12	APN	7	98,712,903 (GRCm38)	makesense	probably null
IGL01973:Thap12	APN	7	98,716,499 (GRCm38)	missense	possibly damaging	0.58
IGL02404:Thap12	APN	7	98,710,133 (GRCm38)	missense	probably damaging	1.00
H8562:Thap12	UTSW	7	98,715,107 (GRCm38)	missense	probably damaging	0.98
PIT4453001:Thap12	UTSW	7	98,715,038 (GRCm38)	missense	probably benign	0.00
R0090:Thap12	UTSW	7	98,715,893 (GRCm38)	missense	probably damaging	1.00
R0254:Thap12	UTSW	7	98,715,281 (GRCm38)	missense	probably benign	0.03
R1344:Thap12	UTSW	7	98,716,830 (GRCm38)	missense	probably damaging	0.97
R1384:Thap12	UTSW	7	98,703,438 (GRCm38)	missense	probably damaging	0.98
R1418:Thap12	UTSW	7	98,716,830 (GRCm38)	missense	probably damaging	0.97
R1448:Thap12	UTSW	7	98,716,023 (GRCm38)	missense	probably benign	0.01
R1493:Thap12	UTSW	7	98,715,438 (GRCm38)	missense	probably benign	0.30
R1906:Thap12	UTSW	7	98,716,740 (GRCm38)	missense	probably damaging	1.00
R1932:Thap12	UTSW	7	98,716,838 (GRCm38)	missense	possibly damaging	0.77
R1992:Thap12	UTSW	7	98,716,365 (GRCm38)	missense	possibly damaging	0.68
R2044:Thap12	UTSW	7	98,716,620 (GRCm38)	missense	probably damaging	1.00
R2092:Thap12	UTSW	7	98,716,449 (GRCm38)	missense	possibly damaging	0.70
R2160:Thap12	UTSW	7	98,710,126 (GRCm38)	missense	probably damaging	0.97
R3850:Thap12	UTSW	7	98,716,663 (GRCm38)	missense	probably damaging	1.00
R4086:Thap12	UTSW	7	98,716,494 (GRCm38)	missense	possibly damaging	0.94
R4162:Thap12	UTSW	7	98,710,078 (GRCm38)	intron	probably benign
R4554:Thap12	UTSW	7	98,715,845 (GRCm38)	missense	probably benign	0.00
R4555:Thap12	UTSW	7	98,715,845 (GRCm38)	missense	probably benign	0.00
R4556:Thap12	UTSW	7	98,715,845 (GRCm38)	missense	probably benign	0.00
R4557:Thap12	UTSW	7	98,715,845 (GRCm38)	missense	probably benign	0.00
R4659:Thap12	UTSW	7	98,710,091 (GRCm38)	intron	probably benign
R4734:Thap12	UTSW	7	98,715,955 (GRCm38)	nonsense	probably null
R4734:Thap12	UTSW	7	98,715,954 (GRCm38)	missense	probably damaging	0.98
R5794:Thap12	UTSW	7	98,716,393 (GRCm38)	missense	probably benign	0.11
R5994:Thap12	UTSW	7	98,716,030 (GRCm38)	nonsense	probably null
R6515:Thap12	UTSW	7	98,707,095 (GRCm38)	missense	probably damaging	0.97
R6624:Thap12	UTSW	7	98,715,586 (GRCm38)	nonsense	probably null
R6625:Thap12	UTSW	7	98,716,070 (GRCm38)	missense	probably benign	0.00
R6965:Thap12	UTSW	7	98,715,462 (GRCm38)	missense	probably damaging	1.00
R7560:Thap12	UTSW	7	98,710,231 (GRCm38)	missense	probably damaging	0.99
R8182:Thap12	UTSW	7	98,716,377 (GRCm38)	missense	probably damaging	1.00
R8713:Thap12	UTSW	7	98,707,076 (GRCm38)	missense	probably benign	0.30
R8897:Thap12	UTSW	7	98,715,327 (GRCm38)	missense	probably benign	0.38
R9099:Thap12	UTSW	7	98,715,393 (GRCm38)	missense	probably damaging	1.00
R9260:Thap12	UTSW	7	98,707,073 (GRCm38)	nonsense	probably null
R9339:Thap12	UTSW	7	98,715,116 (GRCm38)	missense	possibly damaging	0.95
R9467:Thap12	UTSW	7	98,710,141 (GRCm38)	missense	probably damaging	0.99
R9644:Thap12	UTSW	7	98,715,288 (GRCm38)	missense	probably damaging	0.97
R9789:Thap12	UTSW	7	98,703,385 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATTGAGACTACGCAGCTG -3'
(R):5'- TTGACAGCTAAGGAACCGCG -3'

Sequencing Primer
(F):5'- ACCCTCTCGAGTGCGCATG -3'
(R):5'- GCTAAGCGCCCACTTCATC -3'

Posted On

2018-04-02