Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Foxd4'

237907

Institutional Source

Beutler Lab

Gene Symbol

Foxd4

Ensembl Gene

ENSMUSG00000051490

Gene Name

forkhead box D4

Synonyms

Fkh2, FREAC5

MMRRC Submission

040189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24876600-24878561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24877219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 327 (Q327P)

Ref Sequence

ENSEMBL: ENSMUSP00000058575 (fasta)

Gene Model

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

AlphaFold

Q60688

Predicted Effect

probably damaging
Transcript: ENSMUST00000058600
AA Change: Q327P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058575
Gene: ENSMUSG00000051490
AA Change: Q327P

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,823,537 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or5b12b	T	A	19: 12,861,619 (GRCm39)	C125S	probably damaging	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,198,698 (GRCm39)	R574C	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,427,653 (GRCm39)	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Tc2n	G	A	12: 101,672,803 (GRCm39)	T46I	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAAATTCGGGCAAGGTCCCC -3'
(R):5'- ACATGTTCGACAACGGCAG -3'

Sequencing Primer
(F):5'- TGTCAGCCTACCGTCGTCAG -3'
(R):5'- TTCGACAACGGCAGCTTCC -3'

Posted On

2014-10-02