Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Tfdp1'

532374

Institutional Source

Beutler Lab

Gene Symbol

Tfdp1

Ensembl Gene

ENSMUSG00000038482

Gene Name

transcription factor Dp 1

Synonyms

Drtf1, Dp1

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13388751-13428448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13420485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 105 (R105W)

Ref Sequence

ENSEMBL: ENSMUSP00000147881 (fasta)

Gene Model

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

AlphaFold

Q08639

Predicted Effect

probably damaging
Transcript: ENSMUST00000170909
AA Change: R105W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482
AA Change: R105W

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 damaging
Transcript: ENSMUST00000209282
AA Change: R105W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209396

Predicted Effect

probably damaging
Transcript: ENSMUST00000209885
AA Change: R105W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209945
AA Change: R41W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210165
AA Change: R47W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000210501

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Aif1	C	T	17: 35,390,472 (GRCm39)	V93M	probably damaging	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	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
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
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'- GTGTGAACTGGCCTCATACATG -3'
(R):5'- AAGTCAAGCCCCATGTCTTG -3'

Sequencing Primer
(F):5'- CATGTTCTTTTCTGACCTGAGAAAC -3'
(R):5'- GCCAGAACACTTACTGATTCGTTTGG -3'

Posted On

2018-08-29