Mutagenetix > Incidental Mutations

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

CWH3, Genesis, Hfh2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

99656299-99658622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99657195 bp

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]

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: 155,562,011	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,504,448	R366S	probably damaging	Het
Afg3l2	C	A	18: 67,414,069		probably benign	Het
Cd5	T	C	19: 10,726,289		probably benign	Het
Cnbd1	A	G	4: 18,862,111	S360P	probably damaging	Het
Col13a1	A	T	10: 61,885,711	L305I	possibly damaging	Het
Commd7	A	T	2: 153,622,764		probably benign	Het
Cpsf6	A	T	10: 117,367,979	Y23N	probably damaging	Het
Cry1	A	G	10: 85,157,129	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,513,323	N107D	probably benign	Het
Dcaf11	T	A	14: 55,561,421	V45E	probably damaging	Het
Dnm2	A	G	9: 21,474,611	E310G	probably damaging	Het
Fat3	T	A	9: 16,003,862	I1597L	probably benign	Het
Fcamr	A	G	1: 130,800,948		probably benign	Het
Fer	A	G	17: 63,991,642	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,444,519	K1133R	possibly damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,016,544		probably null	Het
Glb1	T	G	9: 114,430,321	N106K	probably damaging	Het
Hpx	A	G	7: 105,592,402	I295T	probably damaging	Het
Ipo5	T	A	14: 120,942,687	D844E	probably damaging	Het
Krt17	T	C	11: 100,259,735	I159V	possibly damaging	Het
Lgi4	G	A	7: 31,063,180		probably null	Het
Lrrc49	T	C	9: 60,666,280		probably benign	Het
Ltn1	T	C	16: 87,425,611	K178R	probably damaging	Het
Myh8	T	A	11: 67,294,418	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362	N30S	probably damaging	Het
Olfr1245	A	T	2: 89,575,249	V159D	probably damaging	Het
Olfr1312	T	A	2: 112,042,976	N19Y	probably benign	Het
Olfr137	A	G	17: 38,304,895	S189P	probably benign	Het
Olfr632	T	C	7: 103,938,025	V215A	probably benign	Het
Pcdh15	A	T	10: 74,624,272	I1314F	probably damaging	Het
Phf14	G	A	6: 11,962,659	S435N	probably damaging	Het
Prss45	T	A	9: 110,840,550	Y231*	probably null	Het
Pus7l	T	C	15: 94,536,568	D339G	probably damaging	Het
Sbk2	A	G	7: 4,957,409	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,732,070	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,245,178	T469I	probably damaging	Het
Spon1	A	G	7: 114,034,287	E655G	probably damaging	Het
Sv2b	T	C	7: 75,156,760		probably null	Het
Treh	A	G	9: 44,685,931	D514G	probably damaging	Het
Umodl1	T	A	17: 30,996,355	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,826,387	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,322,894	S248P	probably damaging	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
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
RF038:Foxd3	UTSW	4	99657396	small deletion	probably benign
Z1176:Foxd3	UTSW	4	99657066	missense	probably damaging	1.00

Posted On

2016-08-02