Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Foxd4'

510497

Institutional Source

Beutler Lab

Gene Symbol

Foxd4

Ensembl Gene

ENSMUSG00000051490

Gene Name

forkhead box D4

Synonyms

Fkh2, FREAC5

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24876600-24878561 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 24878198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000058575 (fasta)

Gene Model

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

AlphaFold

Q60688

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058600
AA Change: M1L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058575
Gene: ENSMUSG00000051490
AA Change: M1L

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Cmc2	G	T	8: 117,620,896 (GRCm39)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Fstl5	T	A	3: 76,615,108 (GRCm39)	I723N	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Micu3	A	G	8: 40,819,238 (GRCm39)	T306A	probably benign	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Taar6	A	G	10: 23,861,177 (GRCm39)	L123P	probably damaging	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	possibly 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
IGL02709:Foxd4	APN	19	24,876,973 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

Posted On

2018-04-02