Mutagenetix > Incidental Mutation

Incidental Mutation 'R4635:Tfdp2'

349445

Institutional Source

Beutler Lab

Gene Symbol

Tfdp2

Ensembl Gene

ENSMUSG00000032411

Gene Name

transcription factor Dp 2

Synonyms

A330080J22Rik, DP3, DP-3, 1110029I05Rik, DP3

MMRRC Submission

041899-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4635 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

96078348-96205699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96179727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 113 (N113K)

Ref Sequence

ENSEMBL: ENSMUSP00000141084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034982] [ENSMUST00000165120] [ENSMUST00000165768] [ENSMUST00000179065] [ENSMUST00000179416] [ENSMUST00000185644] [ENSMUST00000186609] [ENSMUST00000188008] [ENSMUST00000188750] [ENSMUST00000189606] [ENSMUST00000188829]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034982
AA Change: N128K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: N128K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	66	147	3.8e-29	PFAM
DP	154	298	1.69e-87	SMART
low complexity region	345	361	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165120
AA Change: N53K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
AA Change: N53K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	1	72	3.2e-25	PFAM
DP	79	223	1.69e-87	SMART
low complexity region	270	286	N/A	INTRINSIC
low complexity region	296	310	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165768
AA Change: N129K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: N129K

Domain	Start	End	E-Value	Type
E2F_TDP	66	148	1.39e-33	SMART
DP	155	299	1.69e-87	SMART
low complexity region	346	362	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179065
AA Change: N102K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: N102K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	40	121	3.9e-29	PFAM
DP	128	272	1.69e-87	SMART
low complexity region	319	335	N/A	INTRINSIC
low complexity region	345	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179416
AA Change: N128K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: N128K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	66	147	3.8e-29	PFAM
DP	154	298	1.69e-87	SMART
low complexity region	345	361	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185644
AA Change: N128K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: N128K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	66	147	3.8e-29	PFAM
DP	154	298	1.69e-87	SMART
low complexity region	345	361	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186609
AA Change: N77K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139891
Gene: ENSMUSG00000032411
AA Change: N77K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	14	96	3.2e-27	PFAM
DP	103	203	4e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000188008
AA Change: N113K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
AA Change: N113K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	50	132	1e-26	PFAM
DP	139	283	8e-92	SMART
low complexity region	330	346	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188750
AA Change: N189K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: N189K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	127	208	1.3e-26	PFAM
DP	215	359	8e-92	SMART
low complexity region	406	422	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189606
AA Change: N113K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
AA Change: N113K

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	50	132	1e-26	PFAM
DP	139	283	8e-92	SMART
low complexity region	330	346	N/A	INTRINSIC
low complexity region	356	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188829

SMART Domains

Protein: ENSMUSP00000140359
Gene: ENSMUSG00000032411

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	66	108	4.6e-8	PFAM

Meta Mutation Damage Score

0.8787

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (39/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

All alleles(416) : Targeted, other(1) Gene trapped(415)

SNPs within 2kb(416 from dbSNP Build 128)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,764,927 (GRCm39)	K639I	probably benign	Het
Amer3	C	A	1: 34,626,958 (GRCm39)	T399K	probably damaging	Het
Arfgef3	T	C	10: 18,510,603 (GRCm39)	Y786C	probably damaging	Het
Arhgef26	A	G	3: 62,247,861 (GRCm39)	Y315C	probably damaging	Het
Ccdc121	G	A	5: 31,645,435 (GRCm39)	R396Q	probably benign	Het
Chchd6	T	C	6: 89,444,448 (GRCm39)	E178G	probably damaging	Het
Chd3	TGCTGCCGCTGCCGC	TGCTGCCGCTGCCGCTGCCGC	11: 69,253,013 (GRCm39)		probably benign	Het
Daam1	T	A	12: 72,005,518 (GRCm39)		probably null	Het
Ddx60	A	G	8: 62,490,101 (GRCm39)	E1690G	probably benign	Het
Eme2	G	T	17: 25,113,882 (GRCm39)	P48T	probably benign	Het
Ferd3l	T	C	12: 33,978,835 (GRCm39)	M116T	probably damaging	Het
Gm13141	GGTTTCTTGATGCCA	G	4: 147,612,561 (GRCm39)		noncoding transcript	Het
Gtf2i	T	C	5: 134,274,028 (GRCm39)	N727D	probably damaging	Het
Hao1	T	A	2: 134,365,072 (GRCm39)	N185I	probably damaging	Het
Kifap3	C	T	1: 163,642,004 (GRCm39)	T195I	probably damaging	Het
Mag	A	G	7: 30,606,348 (GRCm39)	F363S	probably damaging	Het
Mef2a	A	G	7: 66,890,175 (GRCm39)	I135T	possibly damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Nphs1	T	C	7: 30,167,432 (GRCm39)	F787L	probably benign	Het
Nr1h2	A	C	7: 44,201,961 (GRCm39)	S42A	probably benign	Het
Odad4	C	T	11: 100,442,333 (GRCm39)	Q164*	probably null	Het
Or10ag2	T	A	2: 87,249,043 (GRCm39)	M217K	probably benign	Het
Or4a76	A	C	2: 89,460,516 (GRCm39)	I242S	possibly damaging	Het
Or51aa2	T	C	7: 103,188,355 (GRCm39)	I29V	probably benign	Het
Or5ak23	T	A	2: 85,245,208 (GRCm39)	N5I	probably damaging	Het
Rab38	T	C	7: 88,099,854 (GRCm39)	V123A	probably damaging	Het
Scd1	T	C	19: 44,395,024 (GRCm39)	Y67C	probably damaging	Het
Scn5a	T	C	9: 119,358,051 (GRCm39)	N730S	possibly damaging	Het
Shc2	C	T	10: 79,462,120 (GRCm39)	C341Y	probably benign	Het
Tmc3	A	G	7: 83,234,290 (GRCm39)		probably benign	Het
Top6bl	A	G	19: 4,748,524 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,990,501 (GRCm39)		probably benign	Het
Tspoap1	A	G	11: 87,668,683 (GRCm39)	K1319E	probably benign	Het
Vit	G	A	17: 78,881,641 (GRCm39)	V135I	probably benign	Het
Vwa5b1	T	G	4: 138,338,150 (GRCm39)	S71R	possibly damaging	Het

Other mutations in Tfdp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Tfdp2	APN	9	96,177,083 (GRCm39)	missense	probably damaging	1.00
IGL01737:Tfdp2	APN	9	96,182,465 (GRCm39)	missense	possibly damaging	0.79
IGL02725:Tfdp2	APN	9	96,169,748 (GRCm39)	missense	possibly damaging	0.50
IGL02754:Tfdp2	APN	9	96,199,592 (GRCm39)	missense	probably benign	0.08
IGL02975:Tfdp2	APN	9	96,199,989 (GRCm39)	unclassified	probably benign
I2289:Tfdp2	UTSW	9	96,199,848 (GRCm39)	nonsense	probably null
R0329:Tfdp2	UTSW	9	96,188,946 (GRCm39)	missense	probably damaging	1.00
R0330:Tfdp2	UTSW	9	96,188,946 (GRCm39)	missense	probably damaging	1.00
R0478:Tfdp2	UTSW	9	96,172,636 (GRCm39)	missense	probably benign	0.01
R1843:Tfdp2	UTSW	9	96,199,857 (GRCm39)	missense	possibly damaging	0.90
R1851:Tfdp2	UTSW	9	96,179,762 (GRCm39)	missense	probably damaging	1.00
R2121:Tfdp2	UTSW	9	96,177,067 (GRCm39)	missense	probably damaging	1.00
R2432:Tfdp2	UTSW	9	96,192,643 (GRCm39)	missense	probably damaging	1.00
R5970:Tfdp2	UTSW	9	96,199,627 (GRCm39)	missense	unknown
R7488:Tfdp2	UTSW	9	96,179,695 (GRCm39)	missense	probably damaging	1.00
R7905:Tfdp2	UTSW	9	96,192,659 (GRCm39)	missense
R8222:Tfdp2	UTSW	9	96,192,666 (GRCm39)	missense	possibly damaging	0.59
R8986:Tfdp2	UTSW	9	96,172,637 (GRCm39)	missense	probably damaging	0.98
R9544:Tfdp2	UTSW	9	96,169,663 (GRCm39)	missense	probably damaging	1.00
R9588:Tfdp2	UTSW	9	96,169,663 (GRCm39)	missense	probably damaging	1.00
Z1177:Tfdp2	UTSW	9	96,188,911 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGAAGATGCTTTCACTGGGC -3'
(R):5'- TCCTCCAGTTCAAAATATTCCAGAG -3'

Sequencing Primer
(F):5'- CAGCATGTGAAAGATAACCT -3'
(R):5'- AGTAAAGCAAACATGAACAACTAGG -3'

Posted On

2015-10-08