Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02709:Foxd4'

304510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxd4

Ensembl Gene

ENSMUSG00000051490

Gene Name

forkhead box D4

Synonyms

Fkh2, FREAC5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

24876600-24878561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24876973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 409 (H409R)

Ref Sequence

ENSEMBL: ENSMUSP00000058575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058600]

AlphaFold

Q60688

Predicted Effect

probably damaging
Transcript: ENSMUST00000058600
AA Change: H409R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058575
Gene: ENSMUSG00000051490
AA Change: H409R

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC
low complexity region	86	96	N/A	INTRINSIC
FH	101	191	5.83e-57	SMART
low complexity region	243	257	N/A	INTRINSIC
low complexity region	348	361	N/A	INTRINSIC
low complexity region	377	389	N/A	INTRINSIC

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 encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,654,619 (GRCm39)	Y151C	probably damaging	Het
Aco1	G	A	4: 40,180,199 (GRCm39)	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,134,041 (GRCm39)	W274*	probably null	Het
Ago1	G	A	4: 126,347,433 (GRCm39)	Q135*	probably null	Het
Bmpr1b	A	T	3: 141,562,314 (GRCm39)	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,002,879 (GRCm39)	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,617,495 (GRCm39)	N122S	probably damaging	Het
Col4a3	G	T	1: 82,656,833 (GRCm39)	G751W	unknown	Het
Ctsc	C	T	7: 87,957,347 (GRCm39)	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,688,426 (GRCm39)	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,075,125 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,850,809 (GRCm39)	Y1659*	probably null	Het
Dspp	A	C	5: 104,325,116 (GRCm39)	D493A	unknown	Het
Dyrk1a	C	T	16: 94,486,102 (GRCm39)	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,030,324 (GRCm39)		probably benign	Het
Ecpas	A	G	4: 58,872,699 (GRCm39)	S201P	possibly damaging	Het
Fubp3	A	G	2: 31,485,343 (GRCm39)		probably benign	Het
Herc1	A	G	9: 66,404,962 (GRCm39)	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Map1lc3b	T	A	8: 122,322,768 (GRCm39)	L82Q	probably damaging	Het
Mcc	A	T	18: 44,578,877 (GRCm39)	S844T	possibly damaging	Het
Mccc1	A	T	3: 36,044,888 (GRCm39)	*85K	probably null	Het
Memo1	G	A	17: 74,552,027 (GRCm39)	L90F	probably damaging	Het
Mfrp	A	G	9: 44,014,561 (GRCm39)	H236R	probably benign	Het
Mmrn1	G	A	6: 60,950,030 (GRCm39)	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,392,697 (GRCm39)	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,304,886 (GRCm39)		probably benign	Het
Pros1	T	C	16: 62,719,308 (GRCm39)	L110P	probably damaging	Het
Reck	A	G	4: 43,913,791 (GRCm39)	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,544,766 (GRCm39)	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,371,009 (GRCm39)	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,713,421 (GRCm39)	H106Q	probably damaging	Het
Stab2	A	G	10: 86,682,029 (GRCm39)		probably benign	Het
Sympk	T	G	7: 18,781,463 (GRCm39)	H806Q	probably benign	Het
Tars2	C	A	3: 95,649,383 (GRCm39)		probably benign	Het
Thap3	T	A	4: 152,070,169 (GRCm39)	H75L	probably damaging	Het
Trappc8	T	C	18: 20,970,235 (GRCm39)	I918M	possibly damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Ubqln3	T	G	7: 103,790,543 (GRCm39)	T516P	probably benign	Het
Unc13c	A	G	9: 73,466,238 (GRCm39)	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,933,524 (GRCm39)	Y9*	probably null	Het
Vmn1r89	T	A	7: 12,954,131 (GRCm39)	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,012,355 (GRCm39)	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,816,723 (GRCm39)	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,325,711 (GRCm39)	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,105,851 (GRCm39)	H418R	probably damaging	Het

Other mutations in Foxd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02527:Foxd4	APN	19	24,877,178 (GRCm39)	missense	probably benign
R0544:Foxd4	UTSW	19	24,877,182 (GRCm39)	missense	possibly damaging	0.95
R1969:Foxd4	UTSW	19	24,877,178 (GRCm39)	missense	probably benign
R2187:Foxd4	UTSW	19	24,877,219 (GRCm39)	missense	probably damaging	0.98
R4698:Foxd4	UTSW	19	24,877,625 (GRCm39)	missense	probably damaging	1.00
R5521:Foxd4	UTSW	19	24,877,007 (GRCm39)	missense	probably damaging	0.99
R6260:Foxd4	UTSW	19	24,876,968 (GRCm39)	missense	probably benign	0.02
R6327:Foxd4	UTSW	19	24,878,198 (GRCm39)	start codon destroyed	possibly damaging	0.89
R6943:Foxd4	UTSW	19	24,877,240 (GRCm39)	missense	probably damaging	1.00
R7417:Foxd4	UTSW	19	24,877,826 (GRCm39)	missense	probably damaging	1.00
R7972:Foxd4	UTSW	19	24,877,594 (GRCm39)	missense	probably damaging	1.00
R8752:Foxd4	UTSW	19	24,878,094 (GRCm39)	missense	probably damaging	1.00
R9758:Foxd4	UTSW	19	24,877,670 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16