Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Thap12'

702176

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 98707073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 56 (R56*)

Ref Sequence

ENSEMBL: ENSMUSP00000033009 (fasta)

Gene Model

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

AlphaFold

Q9CUX1

Predicted Effect

probably null
Transcript: ENSMUST00000033009
AA Change: R56*

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: R56*

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 null
Transcript: ENSMUST00000126356
AA Change: R56*

SMART Domains

Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753
AA Change: R56*

Domain	Start	End	E-Value	Type
THAP	3	78	3.21e-9	SMART
DM3	21	78	1.89e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153566
AA Change: R56*

SMART Domains

Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: R56*

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: 99.1%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,316	H369Q	unknown	Het
Atp1a4	A	G	1: 172,246,792	I298T	probably damaging	Het
Bmper	T	A	9: 23,406,720	L545H	probably benign	Het
Cacnb3	A	G	15: 98,639,557	S39G	probably benign	Het
Casr	T	C	16: 36,509,964	K336R	probably benign	Het
Ccdc141	C	A	2: 77,014,451	G1424V	probably damaging	Het
Cd101	A	T	3: 101,013,283	D437E	probably benign	Het
Chadl	A	G	15: 81,693,857	S524P	probably damaging	Het
Clec4a4	C	T	6: 123,023,936	R203*	probably null	Het
Cntnap4	A	G	8: 112,773,644	I523V	probably benign	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,806,897	S229R	possibly damaging	Het
Dnajc15	A	G	14: 77,844,399	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,314,798	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,719,250	V675A	probably benign	Het
F10	G	A	8: 13,055,638	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,587,525	L206F	probably damaging	Het
Fpr1	A	T	17: 17,877,744		probably benign	Het
Frem2	G	C	3: 53,652,783	S1434R	probably damaging	Het
Gli3	G	T	13: 15,725,090	V1021F	probably damaging	Het
Gm7168	A	T	17: 13,949,226	N285I	probably benign	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc1	T	A	9: 66,418,409	C1388*	probably null	Het
Hfe2	T	A	3: 96,528,263	I279N	probably damaging	Het
Hikeshi	T	C	7: 89,930,568		probably benign	Het
Igfn1	T	C	1: 135,979,956	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,335,117	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,260,473	I95F	probably damaging	Het
Il31ra	A	T	13: 112,531,668	S456T	probably damaging	Het
Ints3	T	C	3: 90,401,161	D610G	probably damaging	Het
Iqcg	G	A	16: 33,035,603	Q201*	probably null	Het
Kat14	T	A	2: 144,393,521	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,391,570	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,323,071	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,394,775	T595A	probably benign	Het
Lct	C	T	1: 128,299,967	W1263*	probably null	Het
Lexm	T	C	4: 106,615,437	K84E	probably benign	Het
Micall2	T	A	5: 139,709,698	M905L	unknown	Het
Mkrn1	T	C	6: 39,405,596		probably benign	Het
Mobp	A	G	9: 120,168,506	T164A	unknown	Het
Mtrr	T	C	13: 68,580,555	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,851,518	W888R	unknown	Het
Myh7	G	A	14: 54,987,385	A575V	probably damaging	Het
Nbea	A	C	3: 55,983,812	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,143,242		probably null	Het
Nsun4	T	C	4: 116,044,810	Y153C	probably damaging	Het
Nup210	A	G	6: 91,062,803	I690T	probably benign	Het
Nyap2	T	A	1: 81,087,118		probably benign	Het
Oaz1	T	A	10: 80,826,769	S4T	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,926	V222E		Het
Olfr19	A	T	16: 16,673,473	C169*	probably null	Het
Olfr201	T	C	16: 59,269,314	M118V	probably damaging	Het
Olfr266	A	G	3: 106,822,194	S122P	probably damaging	Het
Olfr813	G	A	10: 129,856,589	V24M	probably benign	Het
Optn	C	T	2: 5,040,265	C222Y	probably benign	Het
Osmr	T	A	15: 6,852,552	H37L	probably benign	Het
Pccb	G	T	9: 100,995,590	P287Q	probably benign	Het
Pclo	T	A	5: 14,714,273	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,697,504		probably null	Het
Pde9a	T	C	17: 31,459,163		probably null	Het
Pdk2	C	A	11: 95,039,434	V59F	probably damaging	Het
Pgm2	T	A	4: 99,969,989	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,276,150		probably benign	Het
Pold4	T	C	19: 4,232,850	F97S	possibly damaging	Het
Ppp5c	C	T	7: 17,006,961	V361I	probably benign	Het
Prrt1	A	G	17: 34,631,146	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,625,576	I84F	probably damaging	Het
Smg7	A	G	1: 152,861,798	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,236,508	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,605,597	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,686,620	G109R	possibly damaging	Het
Ttn	T	C	2: 76,815,575	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Uqcrfs1	G	A	13: 30,541,125	A144V	probably damaging	Het
Usp13	T	A	3: 32,901,760		probably benign	Het
Wdr19	T	A	5: 65,206,446	D67E	possibly damaging	Het
Zkscan3	A	T	13: 21,394,040	W226R	probably damaging	Het
Zmym5	A	C	14: 56,804,184	F154C	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
R9339:Thap12	UTSW	7	98715116	missense	possibly damaging	0.95
R9467:Thap12	UTSW	7	98710141	missense	probably damaging	0.99
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'- CTGTGGACAGCAGTGTGT -3'
(R):5'- GGGATGGGGCATCAGGAACT -3'

Sequencing Primer
(F):5'- CCTCCCAAGTACTGAGAGTATAGGTG -3'
(R):5'- TTACACTGCAAACCAGACT -3'

Posted On

2022-03-25