Mutagenetix > Incidental Mutation

Incidental Mutation 'R3899:Foxd3'

308859

Institutional Source

Beutler Lab

Gene Symbol

Foxd3

Ensembl Gene

ENSMUSG00000067261

Gene Name

forkhead box D3

Synonyms

Genesis, Hfh2, CWH3

MMRRC Submission

040809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3899 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

99544536-99546859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99545736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 292 (Y292C)

Ref Sequence

ENSEMBL: ENSMUSP00000084541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000087285
AA Change: Y292C

SMART Domains

Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261
AA Change: Y292C

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

Meta Mutation Damage Score

0.0983

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,399,157 (GRCm39)		probably benign	Het
Ahctf1	A	G	1: 179,605,345 (GRCm39)	S730P	possibly damaging	Het
Ankrd26	T	A	6: 118,526,389 (GRCm39)	R327S	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Apob	A	T	12: 8,065,849 (GRCm39)	I4273F	possibly damaging	Het
Ascl1	G	T	10: 87,328,435 (GRCm39)	H172Q	probably benign	Het
Azi2	A	G	9: 117,876,571 (GRCm39)	Y29C	probably damaging	Het
Baz1a	A	G	12: 54,981,589 (GRCm39)	M355T	probably benign	Het
Brs3	G	A	X: 56,092,616 (GRCm39)	V367M	possibly damaging	Het
Ccdc33	T	C	9: 57,940,200 (GRCm39)	D524G	probably damaging	Het
Cd300lf	T	C	11: 115,015,177 (GRCm39)	T138A	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Ces1g	T	C	8: 94,029,678 (GRCm39)	Y518C	probably damaging	Het
Chek2	C	T	5: 111,013,479 (GRCm39)		probably benign	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cntnap2	A	T	6: 45,968,837 (GRCm39)	H193L	probably benign	Het
Crim1	C	A	17: 78,588,783 (GRCm39)	T286N	probably benign	Het
Cwc27	T	A	13: 104,929,023 (GRCm39)	K307*	probably null	Het
Dbx2	T	C	15: 95,530,313 (GRCm39)	D218G	possibly damaging	Het
Dclk1	G	A	3: 55,154,750 (GRCm39)	R60Q	probably damaging	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dpp10	A	T	1: 123,281,286 (GRCm39)	W588R	probably damaging	Het
Epg5	G	A	18: 78,000,725 (GRCm39)	E554K	probably damaging	Het
Eya1	T	C	1: 14,340,971 (GRCm39)	T139A	probably benign	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Gli1	C	T	10: 127,172,535 (GRCm39)	M202I	possibly damaging	Het
Gm973	T	C	1: 59,664,299 (GRCm39)	Y634H	probably benign	Het
Gpr132	G	T	12: 112,815,728 (GRCm39)	A366E	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	C	T	15: 65,902,372 (GRCm39)	M201I	probably benign	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,388,372 (GRCm39)	V2351A	unknown	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mtr	A	T	13: 12,231,735 (GRCm39)	N656K	probably benign	Het
Mtus1	T	C	8: 41,536,166 (GRCm39)	T517A	probably benign	Het
Osgep	G	C	14: 51,162,200 (GRCm39)	N12K	probably damaging	Het
Pcare	A	T	17: 72,057,155 (GRCm39)	C841S	probably benign	Het
Prdx3	T	A	19: 60,853,621 (GRCm39)	T235S	probably benign	Het
Rasa3	G	A	8: 13,628,635 (GRCm39)	H608Y	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Slc30a5	T	C	13: 100,954,655 (GRCm39)	M170V	probably benign	Het
Slc4a9	T	C	18: 36,668,616 (GRCm39)	V732A	probably benign	Het
Slc7a2	C	T	8: 41,358,590 (GRCm39)	T311M	possibly damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Stk32b	A	G	5: 37,614,498 (GRCm39)	S337P	probably damaging	Het
Thop1	G	A	10: 80,916,278 (GRCm39)	G429S	probably damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Tmem45a	T	C	16: 56,627,101 (GRCm39)	E256G	probably damaging	Het
Tox4	T	A	14: 52,517,299 (GRCm39)	Y10N	probably damaging	Het
Trpm3	A	G	19: 22,878,524 (GRCm39)	M642V	possibly damaging	Het
Ttll10	T	C	4: 156,120,257 (GRCm39)	T508A	probably damaging	Het
Tut7	T	A	13: 59,937,069 (GRCm39)	K791*	probably null	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Vmn2r97	T	C	17: 19,167,873 (GRCm39)	I709T	probably damaging	Het
Zfp936	T	A	7: 42,839,158 (GRCm39)	N207K	possibly damaging	Het
Zfp946	T	G	17: 22,673,531 (GRCm39)	I95S	probably benign	Het
Zhx3	A	T	2: 160,622,371 (GRCm39)	S599T	possibly 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
IGL03392:Foxd3	APN	4	99,545,432 (GRCm39)	missense	probably damaging	0.99
FR4304:Foxd3	UTSW	4	99,545,633 (GRCm39)	small deletion	probably benign
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

Predicted Primers

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

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

Posted On

2015-04-17