Mutagenetix > Incidental Mutation

Incidental Mutation 'RF036:Foxd3'

604574

Institutional Source

Beutler Lab

Gene Symbol

Foxd3

Ensembl Gene

ENSMUSG00000067261

Gene Name

forkhead box D3

Synonyms

Genesis, Hfh2, CWH3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF036 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

99544536-99546859 bp(+) (GRCm39)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

GGACCCTACGGCCG to GG at 99545633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087285

SMART Domains

Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261

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

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	TCCCTG	17: 24,506,701 (GRCm39)		probably benign	Het
Acap3	G	GGGCTGCATCCTGGGC	4: 155,989,544 (GRCm39)		probably benign	Het
Adgra3	GGCCGC	GGC	5: 50,215,983 (GRCm39)		probably benign	Het
Blm	CCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCT	7: 80,162,662 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGG	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGTTGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cherp	ACCTGGACC	AC	8: 73,215,888 (GRCm39)		probably null	Het
Cherp	TGGACC	T	8: 73,215,891 (GRCm39)		probably null	Het
Cyb5r4	CAGACACACTGCC	CAGACACACTGCCTAGGGATGTGATAGACACACTGCC	9: 86,922,483 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Fam171b	GCAGC	GCAGCAACAGC	2: 83,643,236 (GRCm39)		probably benign	Het
Fsip2	TTTT	TTTTTCTTT	2: 82,814,707 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,142 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAATTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Iqcf4	TCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT	9: 106,447,810 (GRCm39)		probably benign	Het
Ivl	TGCTGCTGCTGCTGC	T	3: 92,479,648 (GRCm39)		probably null	Het
Kif12	C	CCTCCACCCGGCGGGT	4: 63,089,664 (GRCm39)		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,339,381 (GRCm39)		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 28,743,400 (GRCm39)		probably null	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGGAG	X: 70,162,434 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,441 (GRCm39)		probably benign	Het
Morn4	GTGAG	GTGAGTCAGGCAATGAG	19: 42,064,553 (GRCm39)		probably null	Het
Nefh	GGGAC	GGGACGTGGCATCACCTGTGGAC	11: 4,891,048 (GRCm39)		probably benign	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,010 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,016 (GRCm39)		probably benign	Het
Nefh	TGGCCTC	TGGCCTCGCCTGGGGACTGGGCCTC	11: 4,891,036 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCA	TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA	2: 119,458,068 (GRCm39)		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA	2: 119,458,075 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,300,539 (GRCm39)		probably benign	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rnf144a	TCTCTCTCTC	TCTCTCTCTCTCTCTCACTCTCTCTC	12: 26,364,007 (GRCm39)		probably benign	Het
Rnf144a	CTCTC	CTCTCTCTCTCTCTCTATCTC	12: 26,364,012 (GRCm39)		probably benign	Het
Rpgrip1	AGAGGAAG	A	14: 52,386,998 (GRCm39)		probably null	Het
Rsf1	CG	CGATG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd1a	GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,472 (GRCm39)		probably benign	Het
Spmap2l	G	GCGATCCTCCCCAGTCCCGCAAGGCCAT	5: 77,164,276 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,191,419 (GRCm39)	E591D	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC	17: 78,984,706 (GRCm39)		probably null	Het
Tcof1	AGC	AGCGGC	18: 60,968,808 (GRCm39)		probably benign	Het
Tcof1	CT	CTAGT	18: 60,961,480 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,028 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,673,169 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Usp2	ACTTAC	ACTTACTCATGTGACCCGTTCTTCCCTTAC	9: 44,000,421 (GRCm39)		probably benign	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
R3899:Foxd3	UTSW	4	99,545,736 (GRCm39)	missense	unknown
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
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'- ACTGCTTCGTCAAGATCCC -3'
(R):5'- TGTTCTCGATGCTGAACGAC -3'

Sequencing Primer
(F):5'- TTCGTCAAGATCCCCCGCG -3'
(R):5'- TCGGACTTGATGAGCGACG -3'

Posted On

2019-12-04