Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Thap12'

678101

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

2900052B10Rik, Dap4, Prkrir

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98352310-98367269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98364534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 234 (M234T)

Ref Sequence

ENSEMBL: ENSMUSP00000033009 (fasta)

Gene Model

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

AlphaFold

Q9CUX1

Predicted Effect

probably benign
Transcript: ENSMUST00000033009
AA Change: M234T

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: M234T

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	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
R2092:Thap12	UTSW	7	98,365,656 (GRCm39)	missense	possibly damaging	0.70
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
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'- TCTGGTTCTCATGGGAAAGCAG -3'
(R):5'- AATCTCCGCATCAGCTTCATAC -3'

Sequencing Primer
(F):5'- GTTCTCATGGGAAAGCAGAACATCC -3'
(R):5'- GCATCAGCTTCATACGGCAG -3'

Posted On

2021-08-02