Mutagenetix > Incidental Mutation

Incidental Mutation 'RF038:Foxd3'

604659

Institutional Source

Beutler Lab

Gene Symbol

Foxd3

Ensembl Gene

ENSMUSG00000067261

Gene Name

forkhead box D3

Synonyms

Genesis, Hfh2, CWH3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF038 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

99544536-99546859 bp(+) (GRCm39)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

GGACCCTACGGCCG to GG at 99545633 bp (GRCm39)

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
A030005L19Rik	TGT	TGTAGCTGCGGT	1: 82,891,301 (GRCm39)	probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)	probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)	probably benign	Het
AI837181	GGC	GGCAGC	19: 5,475,254 (GRCm39)	probably benign	Het
AI837181	GCG	GCGACG	19: 5,475,264 (GRCm39)	probably benign	Het
Cdx1	CTGCTG	CTGCTGGTGCTG	18: 61,152,942 (GRCm39)	probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACACACACACTGCGCAGGGA	9: 86,922,495 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGAAGGAG	9: 99,465,750 (GRCm39)	probably benign	Het
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)	probably benign	Het
Dmkn	GTGGAAGTGGTGG	GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG	7: 30,466,619 (GRCm39)	probably benign	Het
Dnaaf9	CTC	CTCATC	2: 130,612,664 (GRCm39)	probably null	Het
Enah	TGGCGGCGG	TGG	1: 181,749,500 (GRCm39)	probably benign	Het
Flywch1	ACCCACTCCTGGTGT	ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT	17: 23,981,138 (GRCm39)	probably null	Het
Fscb	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,519,343 (GRCm39)	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,824,352 (GRCm39)	probably null	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)	probably null	Het
Gas1	CGAGGA	CGAGGAGGA	13: 60,324,342 (GRCm39)	probably benign	Het
Gas1	AG	AGATG	13: 60,324,344 (GRCm39)	probably benign	Het
Gm15155	CAAAAA	CAAAAACAAAAAA	X: 155,128,636 (GRCm39)	probably null	Het
Habp4	TGAGG	TG	13: 64,309,976 (GRCm39)	probably benign	Het
Hsdl2	CACAGCTGCAG	CACAGCTGCAGCAGCAGCGACAGCTGCAG	4: 59,610,648 (GRCm39)	probably benign	Het
Il2	CTT	CTTCAAGTGGGGATT	3: 37,179,970 (GRCm39)	probably null	Het
Irag2	TG	TGAGCACATCG	6: 145,119,516 (GRCm39)	probably benign	Het
Ivl	CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,607 (GRCm39)	probably benign	Het
Krtap28-10	CA	CAACCAAA	1: 83,019,849 (GRCm39)	probably benign	Het
Krtap28-10	CAGCCACAGCCACCACAGCCACAGCCACCA	CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA	1: 83,019,978 (GRCm39)	probably benign	Het
Lmx1b	CATCTTGATGCCGTCCAA	C	2: 33,530,521 (GRCm39)	probably null	Het
Mamld1	CAG	CAGGAG	X: 70,162,452 (GRCm39)	probably benign	Het
Nefh	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,027 (GRCm39)	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,029 (GRCm39)	probably benign	Het
Nefh	CTCACCTGGGGACTTGGC	CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC	11: 4,891,040 (GRCm39)	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,012 (GRCm39)	probably benign	Het
Nefh	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,018 (GRCm39)	probably benign	Het
Nefh	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,019 (GRCm39)	probably benign	Het
Pabpc6	AGCTGC	AGC	17: 9,887,044 (GRCm39)	probably benign	Het
Pkhd1l1	TTTTTT	TTTTTTTTGTTTTT	15: 44,421,899 (GRCm39)	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,756,783 (GRCm39)	probably benign	Het
Rassf6	GCAATGGGGATTC	GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC	5: 90,756,789 (GRCm39)	probably benign	Het
Rbm12	CAGGTATTGCGGGACC	CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC	2: 155,938,026 (GRCm39)	probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACACAGATG	17: 24,164,358 (GRCm39)	probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC	17: 78,984,711 (GRCm39)	probably null	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,635,068 (GRCm39)	probably benign	Het
Tcof1	TCCCAGAGATCCCC	TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC	18: 60,966,638 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCGGC	17: 48,097,030 (GRCm39)	probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)	probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTCCTGCTGCT	15: 72,673,172 (GRCm39)	probably benign	Het
Zfhx3	CAGCA	CAGCACCAGAAGCA	8: 109,682,733 (GRCm39)	probably benign	Het

Other mutations in Foxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02483:Foxd3	APN	4	99,545,265 (GRCm39)	missense	probably damaging	1.00
IGL02936:Foxd3	APN	4	99,545,052 (GRCm39)	missense	probably benign	0.41
IGL03392:Foxd3	APN	4	99,545,432 (GRCm39)	missense	probably damaging	0.99
FR4304:Foxd3	UTSW	4	99,545,633 (GRCm39)	small deletion	probably benign
R3899:Foxd3	UTSW	4	99,545,736 (GRCm39)	missense	unknown
R5034:Foxd3	UTSW	4	99,545,327 (GRCm39)	missense	probably damaging	0.98
R6226:Foxd3	UTSW	4	99,545,261 (GRCm39)	missense	probably damaging	1.00
R6244:Foxd3	UTSW	4	99,545,477 (GRCm39)	missense	possibly damaging	0.48
R6272:Foxd3	UTSW	4	99,544,977 (GRCm39)	missense	probably damaging	1.00
R7152:Foxd3	UTSW	4	99,545,562 (GRCm39)	missense	probably benign	0.02
R7676:Foxd3	UTSW	4	99,545,151 (GRCm39)	missense	probably damaging	0.98
R7762:Foxd3	UTSW	4	99,545,362 (GRCm39)	nonsense	probably null
R7908:Foxd3	UTSW	4	99,545,576 (GRCm39)	missense	probably benign	0.14
R7993:Foxd3	UTSW	4	99,544,841 (GRCm39)	start gained	probably benign
RF026:Foxd3	UTSW	4	99,545,633 (GRCm39)	small deletion	probably benign
RF036:Foxd3	UTSW	4	99,545,633 (GRCm39)	small deletion	probably benign
Z1176:Foxd3	UTSW	4	99,545,303 (GRCm39)	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