Mutagenetix > Incidental Mutation

Incidental Mutation 'R5257:Tfdp1'

399783

Institutional Source

Beutler Lab

Gene Symbol

Tfdp1

Ensembl Gene

ENSMUSG00000038482

Gene Name

transcription factor Dp 1

Synonyms

Drtf1, Dp1

MMRRC Submission

042855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13388751-13428448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13419529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 86 (T86M)

Ref Sequence

ENSEMBL: ENSMUSP00000147536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170909] [ENSMUST00000209282] [ENSMUST00000209396] [ENSMUST00000209885] [ENSMUST00000209945] [ENSMUST00000210165] [ENSMUST00000210501]

AlphaFold

Q08639

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170909
AA Change: T86M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482
AA Change: T86M

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

possibly damaging
Transcript: ENSMUST00000209282
AA Change: T86M

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209396

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209885
AA Change: T86M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209945
AA Change: T22M

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210165
AA Change: T28M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210501
AA Change: T86M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211606

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (63/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
Astn1	A	G	1: 158,440,102 (GRCm39)	K890R	probably damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cep43	T	C	17: 8,391,775 (GRCm39)	S152P	probably benign	Het
Chsy3	A	G	18: 59,542,866 (GRCm39)	E668G	possibly damaging	Het
Cnot8	T	A	11: 58,008,348 (GRCm39)	N271K	possibly damaging	Het
Dcaf5	G	T	12: 80,444,493 (GRCm39)	P200H	probably damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Dsg1a	A	G	18: 20,453,988 (GRCm39)	D31G	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gdf3	T	C	6: 122,583,345 (GRCm39)	M341V	probably damaging	Het
Gm21738	A	G	14: 19,415,942 (GRCm38)	L199S	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Ipo9	A	T	1: 135,313,173 (GRCm39)	C1019S	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ktn1	T	A	14: 47,904,820 (GRCm39)	H199Q	probably benign	Het
Kyat3	A	G	3: 142,440,337 (GRCm39)	M354V	probably benign	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mslnl	T	C	17: 25,965,139 (GRCm39)	Y502H	probably benign	Het
Nckap5	A	G	1: 125,952,245 (GRCm39)	S1372P	probably damaging	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Or5au1	T	C	14: 52,273,341 (GRCm39)	T76A	possibly damaging	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Padi4	C	T	4: 140,473,515 (GRCm39)	V641M	probably benign	Het
Phf11d	T	C	14: 59,590,160 (GRCm39)	I221V	possibly damaging	Het
Pla2g2c	G	A	4: 138,458,856 (GRCm39)		probably benign	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sardh	T	C	2: 27,134,271 (GRCm39)	T82A	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Setd4	T	C	16: 93,393,221 (GRCm39)	T57A	probably damaging	Het
Skint5	T	C	4: 113,434,859 (GRCm39)	T1037A	unknown	Het
Slc18a3	T	C	14: 32,185,777 (GRCm39)	D202G	probably damaging	Het
Slc44a5	G	A	3: 153,948,760 (GRCm39)	C176Y	probably damaging	Het
Slc6a5	G	A	7: 49,579,740 (GRCm39)	V373M	probably damaging	Het
Sorbs3	T	C	14: 70,422,483 (GRCm39)	I523V	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,749,061 (GRCm39)	D1331V	possibly damaging	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Wnk1	A	G	6: 120,014,149 (GRCm39)	S149P	probably benign	Het
Zfp521	G	A	18: 13,980,035 (GRCm39)	S126F	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	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
R5258:Tfdp1	UTSW	8	13,419,529 (GRCm39)	missense	possibly damaging	0.92
R5895:Tfdp1	UTSW	8	13,407,038 (GRCm39)	splice site	probably null
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'- AGATGTACGGGTGTCTGAGC -3'
(R):5'- CACTTTCTAAGCGTTTGTGTCG -3'

Sequencing Primer
(F):5'- TGCCACAGCAGAGCAGC -3'
(R):5'- TTCTCTGTGGCCCAGTCAGAG -3'

Posted On

2016-07-06