Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03392:Foxd3'

421107

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

99544536-99546859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99545432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 191 (K191E)

Ref Sequence

ENSEMBL: ENSMUSP00000084541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000087285
AA Change: K191E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261
AA Change: K191E

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,403,931 (GRCm39)	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,543,529 (GRCm39)	R366S	probably damaging	Het
Afg3l2	C	A	18: 67,547,139 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,703,653 (GRCm39)		probably benign	Het
Cnbd1	A	G	4: 18,862,111 (GRCm39)	S360P	probably damaging	Het
Col13a1	A	T	10: 61,721,490 (GRCm39)	L305I	possibly damaging	Het
Commd7	A	T	2: 153,464,684 (GRCm39)		probably benign	Het
Cpsf6	A	T	10: 117,203,884 (GRCm39)	Y23N	probably damaging	Het
Cry1	A	G	10: 84,992,993 (GRCm39)	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,501,767 (GRCm39)	N107D	probably benign	Het
Dcaf11	T	A	14: 55,798,878 (GRCm39)	V45E	probably damaging	Het
Dnm2	A	G	9: 21,385,907 (GRCm39)	E310G	probably damaging	Het
Fat3	T	A	9: 15,915,158 (GRCm39)	I1597L	probably benign	Het
Fcamr	A	G	1: 130,728,685 (GRCm39)		probably benign	Het
Fer	A	G	17: 64,298,637 (GRCm39)	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,351,826 (GRCm39)	K1133R	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,164,410 (GRCm39)		probably null	Het
Glb1	T	G	9: 114,259,389 (GRCm39)	N106K	probably damaging	Het
Hpx	A	G	7: 105,241,609 (GRCm39)	I295T	probably damaging	Het
Ipo5	T	A	14: 121,180,099 (GRCm39)	D844E	probably damaging	Het
Krt17	T	C	11: 100,150,561 (GRCm39)	I159V	possibly damaging	Het
Lgi4	G	A	7: 30,762,605 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,573,563 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,222,499 (GRCm39)	K178R	probably damaging	Het
Myh8	T	A	11: 67,185,244 (GRCm39)	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362 (GRCm39)	N30S	probably damaging	Het
Or2j3	A	G	17: 38,615,786 (GRCm39)	S189P	probably benign	Het
Or4a72	A	T	2: 89,405,593 (GRCm39)	V159D	probably damaging	Het
Or4f59	T	A	2: 111,873,321 (GRCm39)	N19Y	probably benign	Het
Or51ai2	T	C	7: 103,587,232 (GRCm39)	V215A	probably benign	Het
Pcdh15	A	T	10: 74,460,104 (GRCm39)	I1314F	probably damaging	Het
Phf14	G	A	6: 11,962,658 (GRCm39)	S435N	probably damaging	Het
Prss45	T	A	9: 110,669,618 (GRCm39)	Y231*	probably null	Het
Pus7l	T	C	15: 94,434,449 (GRCm39)	D339G	probably damaging	Het
Sbk2	A	G	7: 4,960,408 (GRCm39)	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,698,329 (GRCm39)	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,136,004 (GRCm39)	T469I	probably damaging	Het
Spon1	A	G	7: 113,633,522 (GRCm39)	E655G	probably damaging	Het
Sv2b	T	C	7: 74,806,508 (GRCm39)		probably null	Het
Treh	A	G	9: 44,597,228 (GRCm39)	D514G	probably damaging	Het
Umodl1	T	A	17: 31,215,329 (GRCm39)	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,803,350 (GRCm39)	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,299,879 (GRCm39)	S248P	probably damaging	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
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
RF038:Foxd3	UTSW	4	99,545,633 (GRCm39)	small deletion	probably benign
Z1176:Foxd3	UTSW	4	99,545,303 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02