Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Thap12'

317365

Institutional Source

Beutler Lab

Gene Symbol

Thap12

Ensembl Gene

ENSMUSG00000030753

Gene Name

THAP domain containing 12

Synonyms

Prkrir, Dap4, 2900052B10Rik

MMRRC Submission

041625-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98703103-98718062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98716494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 623 (D623G)

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: D623G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: D623G

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

noncoding transcript
Transcript: ENSMUST00000146473

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208543

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,340,451		probably null	Het
Acss3	T	G	10: 107,053,452	Y169S	probably damaging	Het
Adcy7	A	G	8: 88,315,786	D427G	probably benign	Het
Adrm1	A	G	2: 180,172,834		probably benign	Het
Arfgef1	T	C	1: 10,163,759	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,247,066		probably benign	Het
Arhgef28	T	C	13: 97,967,204	R767G	probably damaging	Het
BC046251	A	G	7: 65,582,148		noncoding transcript	Het
Brwd1	T	C	16: 96,046,372	S683G	probably benign	Het
Calcoco1	C	G	15: 102,710,399		probably benign	Het
Carmil1	G	T	13: 24,024,461	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 127,721,388	V153E	probably damaging	Het
Col24a1	G	A	3: 145,461,437	G1090R	probably damaging	Het
Csmd1	T	A	8: 15,992,738	I2332F	probably damaging	Het
Ets2	C	A	16: 95,709,789	D30E	probably damaging	Het
Fam181b	T	C	7: 93,080,580	V187A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,478,546	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,648,286	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,249,569	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm15446	A	G	5: 109,943,255	K458E	probably benign	Het
Hecw2	T	C	1: 53,831,656	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,388,690		probably benign	Het
Krtap31-1	C	T	11: 99,908,319	T116I	possibly damaging	Het
Mafa	T	G	15: 75,747,137	K262N	probably damaging	Het
Nxph4	T	C	10: 127,526,686	Y112C	probably damaging	Het
Olfr814	A	G	10: 129,874,298	V153A	possibly damaging	Het
Olfr987	C	A	2: 85,331,826	W24L	probably benign	Het
Pgls	G	A	8: 71,596,090	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,347,161	I885V	probably benign	Het
Prkcq	A	G	2: 11,283,868	D544G	probably damaging	Het
Rnf44	T	C	13: 54,682,335	N254D	possibly damaging	Het
Sept10	A	T	10: 59,192,223	L92*	probably null	Het
Slc14a2	A	T	18: 78,205,783	I156N	probably damaging	Het
Sos1	A	G	17: 80,449,352	V257A	probably benign	Het
Sypl2	A	G	3: 108,217,676	I123T	possibly damaging	Het
Traf3ip3	A	G	1: 193,181,320	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709	T110S	probably benign	Het
Trim30d	T	C	7: 104,487,800	N66D	probably damaging	Het
Trim65	G	A	11: 116,126,479	Q386*	probably null	Het
Ube2u	T	A	4: 100,549,842	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,563,294		probably benign	Het
Wbp2nl	A	G	15: 82,308,561	M149V	probably benign	Het
Xpo4	C	T	14: 57,643,033		probably benign	Het
Zbtb21	A	T	16: 97,952,763	Y135N	probably damaging	Het
Zbtb22	T	A	17: 33,918,168	V429D	probably damaging	Het
Zfp281	T	A	1: 136,626,121	I279N	probably damaging	Het
Zhx1	T	C	15: 58,052,921	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,875,053	H1469Y	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
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
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'- AAACTCCCAGGGAAGTTCCG -3'
(R):5'- GGACCTTCAGCAAAGCATATAC -3'

Sequencing Primer
(F):5'- GGTAACCTGGAATCTCAGCTAAC -3'
(R):5'- CCTTCAGCAAAGCATATACATTAGGG -3'

Posted On

2015-05-15