Mutagenetix > Incidental Mutation

Incidental Mutation 'R9644:Thap12'

726143

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9644 (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 98715288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 221 (V221A)

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: V221A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: V221A

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,186,295	S32*	probably null	Het
Adam34	T	A	8: 43,651,729	H293L	probably damaging	Het
Adgrl3	A	G	5: 81,724,189	N910S	probably damaging	Het
Ankrd11	C	T	8: 122,890,943	A2057T	probably benign	Het
Ankrd36	A	G	11: 5,643,835	D480G	possibly damaging	Het
Aox4	T	A	1: 58,228,119	D185E	probably benign	Het
Apol8	C	A	15: 77,749,495	V294L	probably damaging	Het
Arsk	G	A	13: 76,072,108	A289V	probably damaging	Het
Atg101	A	G	15: 101,290,566	D184G	probably benign	Het
Atp10b	C	T	11: 43,151,832	T73I	probably damaging	Het
Ccser2	A	T	14: 36,879,193	N411K	possibly damaging	Het
Cct5	A	G	15: 31,601,699	S3P	probably benign	Het
Chn1	A	T	2: 73,659,840	I31K	probably benign	Het
Clec2e	T	A	6: 129,093,480	I193L	probably benign	Het
Crim1	G	A	17: 78,280,068	G201R	probably damaging	Het
Ctrc	A	G	4: 141,845,025	V68A	probably damaging	Het
Dennd4c	T	A	4: 86,795,126	I438N	probably damaging	Het
Dnah5	T	A	15: 28,230,504	W183R	probably damaging	Het
Dnali1	T	A	4: 125,056,609	I253F	probably damaging	Het
Dyrk1b	T	C	7: 28,182,365	L83P	probably damaging	Het
Emx2	T	C	19: 59,463,995	I237T	probably benign	Het
Enpp3	C	T	10: 24,809,903	R198K	probably damaging	Het
Epb41l1	C	T	2: 156,525,245	P678L	possibly damaging	Het
Epm2aip1	C	T	9: 111,273,069	T370I	probably damaging	Het
Fam184a	T	G	10: 53,697,246	Q346P	probably damaging	Het
Foxi2	A	C	7: 135,411,998	H319P	possibly damaging	Het
Gatad1	A	G	5: 3,641,442	V250A	possibly damaging	Het
Gmeb1	T	C	4: 132,232,129	I205V	probably benign	Het
Gucy2g	C	G	19: 55,231,105	V362L	probably benign	Het
Hace1	T	C	10: 45,649,905	S281P	probably benign	Het
Helz	C	A	11: 107,672,861	A1709D	unknown	Het
Igf2bp2	T	A	16: 22,083,985	N115Y	probably damaging	Het
Igkv4-86	C	T	6: 68,910,609	V49I	probably benign	Het
Kdm2b	A	T	5: 122,982,779	V101E	probably damaging	Het
Kidins220	A	G	12: 25,011,019	D790G	probably damaging	Het
Kif18a	A	G	2: 109,341,172	T865A	probably benign	Het
Kif1b	A	G	4: 149,291,379	V10A	probably damaging	Het
Kmt2d	A	T	15: 98,845,504	M3925K	unknown	Het
Mcee	G	T	7: 64,411,982	A178S	possibly damaging	Het
Megf10	A	T	18: 57,242,701	H233L	probably benign	Het
Meox1	T	A	11: 101,878,656	E238V	probably benign	Het
Myo5a	G	A	9: 75,136,349	G207R	probably damaging	Het
Nemf	T	A	12: 69,312,662	N966I	possibly damaging	Het
Olfr1419	T	C	19: 11,871,210	E2G	probably benign	Het
Olfr1487	G	T	19: 13,619,980	A230S	probably benign	Het
Olfr342	A	T	2: 36,527,765	M118L	probably damaging	Het
Olfr773	A	G	10: 129,186,869	I184T	possibly damaging	Het
Pfas	T	C	11: 68,992,716	Q662R	probably benign	Het
Phf2	G	T	13: 48,870,742	C8*	probably null	Het
Pkhd1	T	A	1: 20,547,466	N965I	probably benign	Het
Plxnd1	C	T	6: 115,963,313	R1370Q	possibly damaging	Het
Prdm8	A	T	5: 98,185,779	T402S	probably benign	Het
Proz	T	A	8: 13,066,854	D135E	probably benign	Het
Prpmp5	T	A	6: 132,312,255	Q202L	unknown	Het
Prtg	T	A	9: 72,906,211	I951K	probably damaging	Het
Rasgef1b	A	T	5: 99,232,155	Y288*	probably null	Het
Sacs	T	A	14: 61,205,979	C1825S	probably benign	Het
Slc22a12	G	C	19: 6,537,643	P427R	probably damaging	Het
Slfn3	A	G	11: 83,214,902	Y575C	probably damaging	Het
St18	C	T	1: 6,859,052	T56I		Het
Synrg	T	C	11: 84,019,870	L876S	probably damaging	Het
Tchh	T	C	3: 93,447,359	C1369R	unknown	Het
Tet2	G	A	3: 133,487,303	Q457*	probably null	Het
Tor3a	T	A	1: 156,673,556	D104V	probably damaging	Het
Trpc2	T	C	7: 102,095,232	V737A	possibly damaging	Het
Trpc4	A	G	3: 54,222,278	Y155C	probably damaging	Het
Tspyl1	T	C	10: 34,283,139	S287P	possibly damaging	Het
Ube2u	TAGAAGAAGAAGAAGAAGAAGAAGAAGA	TAGAAGAAGAAGAAGAAGAAGAAGA	4: 100,549,746		probably benign	Het
Ubr2	A	G	17: 46,955,780		probably null	Het
Vmn1r238	T	A	18: 3,122,635	T260S	probably benign	Het
Wisp1	T	G	15: 66,912,936	C153G		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
R9260:Thap12	UTSW	7	98707073	nonsense	probably null
R9339:Thap12	UTSW	7	98715116	missense	possibly damaging	0.95
R9467:Thap12	UTSW	7	98710141	missense	probably damaging	0.99
R9789:Thap12	UTSW	7	98703385	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTTTAACCCTTGAAGAGAAG -3'
(R):5'- AGGTTATGGGCGTCATCGAC -3'

Sequencing Primer
(F):5'- CTTTAACCCTTGAAGAGAAGGAGAAC -3'
(R):5'- GGCGTCATCGACAAACCTC -3'

Posted On

2022-09-12