Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Drap1'

527948

Institutional Source

Beutler Lab

Gene Symbol

Drap1

Ensembl Gene

ENSMUSG00000024914

Gene Name

DR1 associated protein 1

Synonyms

2310074H19Rik

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R6282 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

5472833-5475007 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 5474464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025853] [ENSMUST00000113673] [ENSMUST00000113674] [ENSMUST00000136579] [ENSMUST00000159759] [ENSMUST00000148219]

AlphaFold

Q9D6N5

Predicted Effect

probably benign
Transcript: ENSMUST00000025853

SMART Domains

Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	2.1e-8	PFAM
Pfam:CBFD_NFYB_HMF	10	74	1e-20	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC
low complexity region	172	194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000054477

Predicted Effect

probably null
Transcript: ENSMUST00000113673

SMART Domains

Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	6.7e-14	PFAM
Pfam:Histone	1	56	1.8e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113674

SMART Domains

Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	10	74	5e-22	PFAM
low complexity region	114	130	N/A	INTRINSIC
low complexity region	141	162	N/A	INTRINSIC
low complexity region	179	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126908

Predicted Effect

probably null
Transcript: ENSMUST00000136579

SMART Domains

Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	8.7e-14	PFAM
Pfam:Histone	1	56	2.3e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127043

Predicted Effect

probably benign
Transcript: ENSMUST00000159759

SMART Domains

Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	44	64	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
Pfam:DUF1917	139	259	6.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128542

Predicted Effect

probably benign
Transcript: ENSMUST00000148219

SMART Domains

Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	9.4e-10	PFAM
Pfam:CBFD_NFYB_HMF	10	74	4.5e-22	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134697

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant embryos exhibit development defects including abnormal gastrulation and primitive streak formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	Het

Other mutations in Drap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02143:Drap1	APN	19	5,473,871 (GRCm39)	missense	probably damaging	1.00
R1574:Drap1	UTSW	19	5,474,285 (GRCm39)	missense	probably damaging	1.00
R1574:Drap1	UTSW	19	5,474,285 (GRCm39)	missense	probably damaging	1.00
R5760:Drap1	UTSW	19	5,474,391 (GRCm39)	missense	probably damaging	1.00
R5940:Drap1	UTSW	19	5,473,028 (GRCm39)	missense	probably benign
R6783:Drap1	UTSW	19	5,474,219 (GRCm39)	missense	probably damaging	0.98
R7085:Drap1	UTSW	19	5,474,815 (GRCm39)	unclassified	probably benign
R7570:Drap1	UTSW	19	5,473,380 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACTCCAGGAAGAGCTCAAGG -3'
(R):5'- AGTATAACGCGCGGTTTCC -3'

Sequencing Primer
(F):5'- AAGAGCTCAAGGGCCCG -3'
(R):5'- TTTCCGCCGGTGAGCAC -3'

Posted On

2018-07-23