Mutagenetix > Incidental Mutations

Incidental Mutation 'RF038:Foxd3'

604659

Institutional Source

Beutler Lab

Gene Symbol

Foxd3

Ensembl Gene

ENSMUSG00000067261

Gene Name

forkhead box D3

Synonyms

CWH3, Genesis, Hfh2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF038 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

99656299-99658622 bp(+) (GRCm38)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

GGACCCTACGGCCG to GG at 99657396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087285]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087285

SMART Domains

Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
low complexity region	99	121	N/A	INTRINSIC
FH	129	219	1.01e-60	SMART
low complexity region	247	312	N/A	INTRINSIC
low complexity region	323	334	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
low complexity region	373	404	N/A	INTRINSIC
low complexity region	451	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175022

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for null alleles dsiplay embryonic lethality with failure of primitive streak formation and gastrulation and failure to derive cultures of embryonic or trophoblast stem cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
4930402H24Rik	CTC	CTCATC	2: 130,770,744	probably null	Het
A030005L19Rik	TGT	TGTAGCTGCGGT	1: 82,913,580	probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201	probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,905,092	probably benign	Het
AI837181	GGC	GGCAGC	19: 5,425,226	probably benign	Het
AI837181	GCG	GCGACG	19: 5,425,236	probably benign	Het
Cdx1	CTGCTG	CTGCTGGTGCTG	18: 61,019,870	probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACACACACACTGCGCAGGGA	9: 87,040,442	probably benign	Het
Dbr1	GAGGAG	GAGGAGAAGGAG	9: 99,583,697	probably benign	Het
Dmkn	GTGGAAGTGGTGG	GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG	7: 30,767,194	probably benign	Het
Enah	TGGCGGCGG	TGG	1: 181,921,935	probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618	probably benign	Het
Fam71e1	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,500,522	probably null	Het
Flywch1	ACCCACTCCTGGTGT	ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT	17: 23,762,164	probably null	Het
Fscb	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,472,569	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008	probably null	Het
Gas1	CGAGGA	CGAGGAGGA	13: 60,176,528	probably benign	Het
Gas1	AG	AGATG	13: 60,176,530	probably benign	Het
Gm15155	CAAAAA	CAAAAACAAAAAA	X: 156,345,640	probably null	Het
Habp4	TGAGG	TG	13: 64,162,162	probably benign	Het
Hsdl2	CACAGCTGCAG	CACAGCTGCAGCAGCAGCGACAGCTGCAG	4: 59,610,648	probably benign	Het
Il2	CTT	CTTCAAGTGGGGATT	3: 37,125,821	probably null	Het
Ivl	CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,300	probably benign	Het
Krtap28-10	CA	CAACCAAA	1: 83,042,128	probably benign	Het
Krtap28-10	CAGCCACAGCCACCACAGCCACAGCCACCA	CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA	1: 83,042,257	probably benign	Het
Lmx1b	CATCTTGATGCCGTCCAA	C	2: 33,640,509	probably null	Het
Lrmp	TG	TGAGCACATCG	6: 145,173,790	probably benign	Het
Mamld1	CAG	CAGGAG	X: 71,118,846	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,012	probably benign	Het
Nefh	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,018	probably benign	Het
Nefh	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,019	probably benign	Het
Nefh	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,027	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,029	probably benign	Het
Nefh	CTCACCTGGGGACTTGGC	CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC	11: 4,941,040	probably benign	Het
Pabpc6	AGCTGC	AGC	17: 9,668,115	probably benign	Het
Pkhd1l1	TTTTTT	TTTTTTTTGTTTTT	15: 44,558,503	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	GCAATGGGGATTC	GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC	5: 90,608,930	probably benign	Het
Rbm12	CAGGTATTGCGGGACC	CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC	2: 156,096,106	probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACACAGATG	17: 23,945,384	probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC	17: 78,677,282	probably null	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647	probably benign	Het
Tcof1	TCCCAGAGATCCCC	TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC	18: 60,833,566	probably benign	Het
Tfeb	AGC	AGCGGC	17: 47,786,105	probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112	probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTCCTGCTGCT	15: 72,801,323	probably benign	Het
Zfhx3	CAGCA	CAGCACCAGAAGCA	8: 108,956,101	probably benign	Het

Other mutations in Foxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02483:Foxd3	APN	4	99657028	missense	probably damaging	1.00
IGL02936:Foxd3	APN	4	99656815	missense	probably benign	0.41
IGL03392:Foxd3	APN	4	99657195	missense	probably damaging	0.99
FR4304:Foxd3	UTSW	4	99657396	small deletion	probably benign
R3899:Foxd3	UTSW	4	99657499	missense	unknown
R5034:Foxd3	UTSW	4	99657090	missense	probably damaging	0.98
R6226:Foxd3	UTSW	4	99657024	missense	probably damaging	1.00
R6244:Foxd3	UTSW	4	99657240	missense	possibly damaging	0.48
R6272:Foxd3	UTSW	4	99656740	missense	probably damaging	1.00
R7152:Foxd3	UTSW	4	99657325	missense	probably benign	0.02
R7676:Foxd3	UTSW	4	99656914	missense	probably damaging	0.98
R7762:Foxd3	UTSW	4	99657125	nonsense	probably null
R7908:Foxd3	UTSW	4	99657339	missense	probably benign	0.14
R7993:Foxd3	UTSW	4	99656604	start gained	probably benign
RF026:Foxd3	UTSW	4	99657396	small deletion	probably benign
RF036:Foxd3	UTSW	4	99657396	small deletion	probably benign
Z1176:Foxd3	UTSW	4	99657066	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGCTTCGTCAAGATCCCC -3'
(R):5'- TTCTCGATGCTGAACGACG -3'

Sequencing Primer
(F):5'- TCAAGATCCCCCGCGAG -3'
(R):5'- TCGGACTTGATGAGCGACG -3'

Posted On

2019-12-04