Mutagenetix > Incidental Mutations

Incidental Mutation 'R9339:Thap12'

707376

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9339 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98715116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 164 (S164P)

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: S164P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: S164P

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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,849,657	E304G	unknown	Het
4933425L06Rik	C	T	13: 105,109,606	T225I	probably benign	Het
4933436I01Rik	T	A	X: 67,921,083	K57*	probably null	Het
Aar2	T	C	2: 156,550,973	V94A	probably benign	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Adam25	T	C	8: 40,753,874	V59A	probably damaging	Het
Ampd2	T	C	3: 108,080,300	D103G	probably damaging	Het
Ankrd12	A	G	17: 65,984,413	S1342P	probably benign	Het
Atp13a2	A	G	4: 141,003,260	T739A	probably benign	Het
Catsperg1	T	A	7: 29,195,460	N571Y	probably benign	Het
Cela3b	A	G	4: 137,425,044	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,557,555	L51P	probably benign	Het
Ckap5	T	A	2: 91,565,755	D534E	probably benign	Het
Cstf3	C	T	2: 104,663,433	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,449,474	L602P	probably damaging	Het
Defa24	A	G	8: 21,734,543	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,711,433	H546R	probably benign	Het
Dscam	A	G	16: 96,716,063	V882A	possibly damaging	Het
Dydc2	A	G	14: 41,049,303	*140Q	probably null	Het
Ehd4	T	C	2: 120,091,227	D516G	possibly damaging	Het
En1	T	C	1: 120,607,164	V394A	unknown	Het
Erich3	T	G	3: 154,763,235	L1108R	unknown	Het
Erp27	A	G	6: 136,919,947	S86P	probably benign	Het
Esr1	A	C	10: 4,746,798	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,968,924	I608N	probably damaging	Het
Fcna	G	A	2: 25,627,770	Q23*	probably null	Het
Foxn4	C	T	5: 114,256,894	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,611,417	H511Q	probably benign	Het
Gm4788	T	A	1: 139,754,306	Y184F	probably benign	Het
Gpr171	C	A	3: 59,097,941	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,660	V509I	probably benign	Het
Gzmd	G	A	14: 56,130,412	P135S	probably damaging	Het
Hhatl	C	A	9: 121,789,796	C90F	probably benign	Het
Hspg2	A	G	4: 137,551,169	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,232,905	Y468H	probably damaging	Het
Lhfp	A	G	3: 53,043,470	H55R	probably benign	Het
Lpgat1	T	C	1: 191,719,376	V38A	probably benign	Het
Lrrc49	A	G	9: 60,602,748	I479T	probably benign	Het
Map1b	A	T	13: 99,431,062	I1717N	unknown	Het
Map3k20	G	T	2: 72,441,872	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,470,524	E157G	probably benign	Het
Mylk2	A	G	2: 152,913,450	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,002,982	L605P	probably damaging	Het
Nox4	G	A	7: 87,376,240	R525Q	probably benign	Het
Olfr1249	T	C	2: 89,630,211	E229G	probably damaging	Het
Olfr63	T	C	17: 33,269,657	V311A	probably benign	Het
Padi3	A	T	4: 140,795,617	I348N	probably benign	Het
Pcdh18	T	C	3: 49,754,886	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,194,974	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,589,553	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,323,196	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,675	E590G	probably benign	Het
Rbm47	T	C	5: 66,026,483	E259G	possibly damaging	Het
Rint1	A	G	5: 23,788,357	*37W	probably null	Het
Sacs	G	A	14: 61,205,860	R1785Q	probably benign	Het
Samm50	T	C	15: 84,211,075	C421R	probably benign	Het
Scnn1b	G	T	7: 121,912,031	A314S	probably damaging	Het
Sf3b3	C	A	8: 110,816,222	V868L	probably benign	Het
Sirt5	G	T	13: 43,376,851	V136L	probably benign	Het
Slc1a7	T	C	4: 107,993,040	V116A	probably damaging	Het
Slc24a4	G	A	12: 102,264,379	V510M	probably damaging	Het
Spata4	T	C	8: 54,600,864	S22P	probably benign	Het
Sqstm1	A	G	11: 50,200,898	V324A	probably benign	Het
Stmnd1	G	A	13: 46,299,603	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,203,986	N470K	possibly damaging	Het
Thsd1	A	G	8: 22,243,882	Y315C	probably damaging	Het
Tnni2	C	A	7: 142,443,935	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,091,392	N16T	probably benign	Het
Trpm7	T	C	2: 126,823,986	K900R	probably benign	Het
Tspoap1	T	A	11: 87,778,013	C1371S	probably benign	Het
Tssk5	A	G	15: 76,372,956	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,483,144	I607V	probably benign	Het
Ubr2	A	T	17: 46,973,939	V551E	probably benign	Het
Vipr2	A	G	12: 116,094,724	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,561,667	K787N	probably damaging	Het
Wwc2	A	T	8: 47,900,824	W92R	probably damaging	Het
Zfp141	A	G	7: 42,476,215	Y278H	probably damaging	Het
Zfp827	T	C	8: 79,118,258	S686P	probably benign	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
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
R9467:Thap12	UTSW	7	98710141	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATCTGTCTGCAGCATTTGTCC -3'
(R):5'- AATGTGTTGACCGCTGTGGC -3'

Sequencing Primer
(F):5'- ATGTTCTATTAGTGGTGAATGAATGC -3'
(R):5'- GGCCTCAAAGCGCTTCCTTAG -3'

Posted On

2022-04-18