Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Tfdp1'

457450

Institutional Source

Beutler Lab

Gene Symbol

Tfdp1

Ensembl Gene

ENSMUSG00000038482

Gene Name

transcription factor Dp 1

Synonyms

Drtf1, Dp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5895 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

13388751-13428448 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 13407038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170909] [ENSMUST00000209282] [ENSMUST00000209282] [ENSMUST00000209396] [ENSMUST00000209885] [ENSMUST00000210165] [ENSMUST00000210501]

AlphaFold

Q08639

Predicted Effect

probably null
Transcript: ENSMUST00000170909

SMART Domains

Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482

Domain	Start	End	E-Value	Type
E2F_TDP	111	193	1.51e-34	SMART
DP	200	344	4.07e-90	SMART
low complexity region	395	410	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000209282

Predicted Effect

probably null
Transcript: ENSMUST00000209282

Predicted Effect

probably benign
Transcript: ENSMUST00000209396

Predicted Effect

probably null
Transcript: ENSMUST00000209885

Predicted Effect

probably benign
Transcript: ENSMUST00000210165

Predicted Effect

probably benign
Transcript: ENSMUST00000210501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211606

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expansion of the ectoplacental cone and chorion, small yolk sacs, and impaired endoreduplication in trophoblast giant cells. Mutants die by embryonic day 12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,216 (GRCm39)	G426S	probably damaging	Het
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Chrnd	T	A	1: 87,123,389 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dhps	T	G	8: 85,800,880 (GRCm39)	S240A	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Elmod1	C	T	9: 53,843,091 (GRCm39)	R29Q	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hat1	T	A	2: 71,239,357 (GRCm39)	N43K	possibly damaging	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	probably damaging	Het

Other mutations in Tfdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02558:Tfdp1	APN	8	13,419,546 (GRCm39)	missense	possibly damaging	0.95
gangly	UTSW	8	13,407,038 (GRCm39)	splice site	probably null
PIT1430001:Tfdp1	UTSW	8	13,422,526 (GRCm39)	missense	probably benign	0.35
R1139:Tfdp1	UTSW	8	13,423,000 (GRCm39)	missense	probably benign	0.14
R1264:Tfdp1	UTSW	8	13,423,837 (GRCm39)	splice site	probably benign
R1485:Tfdp1	UTSW	8	13,420,917 (GRCm39)	missense	probably damaging	0.99
R1967:Tfdp1	UTSW	8	13,423,039 (GRCm39)	missense	possibly damaging	0.59
R4849:Tfdp1	UTSW	8	13,423,895 (GRCm39)	missense	probably benign
R4965:Tfdp1	UTSW	8	13,423,073 (GRCm39)	missense	probably damaging	0.99
R5257:Tfdp1	UTSW	8	13,419,529 (GRCm39)	missense	possibly damaging	0.92
R5258:Tfdp1	UTSW	8	13,419,529 (GRCm39)	missense	possibly damaging	0.92
R6785:Tfdp1	UTSW	8	13,427,233 (GRCm39)	missense	possibly damaging	0.85
R6785:Tfdp1	UTSW	8	13,420,485 (GRCm39)	missense	probably damaging	0.99
R6786:Tfdp1	UTSW	8	13,420,485 (GRCm39)	missense	probably damaging	0.99
R8144:Tfdp1	UTSW	8	13,423,015 (GRCm39)	missense	probably benign	0.01
R9292:Tfdp1	UTSW	8	13,420,580 (GRCm39)	missense	probably benign	0.32
R9469:Tfdp1	UTSW	8	13,422,965 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AGTATCACCTGGTGACATTTCCTC -3'
(R):5'- TTCCTGACATCTCAGAGCGC -3'

Sequencing Primer
(F):5'- CATCAGTCCTGGCTTTTATGACTGG -3'
(R):5'- TGACATCTCAGAGCGCTGCAG -3'

Posted On

2017-02-15