Mutagenetix > Incidental Mutation

Incidental Mutation 'R7152:Foxd3'

554184

Institutional Source

Beutler Lab

Gene Symbol

Foxd3

Ensembl Gene

ENSMUSG00000067261

Gene Name

forkhead box D3

Synonyms

Genesis, Hfh2, CWH3

MMRRC Submission

045254-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99544536-99546859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99545562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 234 (H234P)

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
AA Change: H234P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084541
Gene: ENSMUSG00000067261
AA Change: H234P

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

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btnl10	A	G	11: 58,813,223 (GRCm39)	N284S	probably benign	Het
Casz1	C	G	4: 148,985,748 (GRCm39)		probably benign	Het
Cdkn2c	A	T	4: 109,522,235 (GRCm39)	F37I	probably damaging	Het
Cdyl2	T	C	8: 117,351,066 (GRCm39)	K22E	probably damaging	Het
Cers1	T	C	8: 70,770,901 (GRCm39)	W104R	probably damaging	Het
Cgrrf1	T	A	14: 47,090,934 (GRCm39)	Y223*	probably null	Het
Cited2	C	A	10: 17,600,134 (GRCm39)	N147K	probably benign	Het
Clip2	A	T	5: 134,525,095 (GRCm39)	L904Q	probably damaging	Het
Cntln	T	C	4: 84,802,937 (GRCm39)	V79A	possibly damaging	Het
Cntnap1	C	T	11: 101,068,152 (GRCm39)	R55W	probably damaging	Het
Cspg4b	T	C	13: 113,455,384 (GRCm39)	F477L		Het
Ctnna2	T	A	6: 76,957,807 (GRCm39)	T481S	possibly damaging	Het
Ddx17	T	C	15: 79,414,464 (GRCm39)	T570A	possibly damaging	Het
Epha7	A	G	4: 28,935,826 (GRCm39)	K483E	possibly damaging	Het
Eps8l2	A	T	7: 140,935,678 (GRCm39)	I150F	possibly damaging	Het
Esyt1	A	G	10: 128,351,629 (GRCm39)	S827P	possibly damaging	Het
Fbxl13	T	A	5: 21,787,065 (GRCm39)	I291F	possibly damaging	Het
Ggta1	T	A	2: 35,292,711 (GRCm39)	M199L	probably benign	Het
H3c13	A	G	3: 96,176,254 (GRCm39)	D82G	probably benign	Het
Ighv5-15	T	C	12: 113,790,317 (GRCm39)	E101G	probably benign	Het
Igkv8-18	T	C	6: 70,333,205 (GRCm39)	L49P	probably damaging	Het
Itpr1	T	C	6: 108,371,368 (GRCm39)		probably null	Het
Klhl36	C	T	8: 120,596,953 (GRCm39)	T218M	probably benign	Het
Ltn1	A	G	16: 87,224,529 (GRCm39)	F65S	probably damaging	Het
Marchf3	A	G	18: 56,909,053 (GRCm39)	V244A	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ndst3	T	A	3: 123,346,305 (GRCm39)	I642F	possibly damaging	Het
Neb	T	C	2: 52,153,557 (GRCm39)	D2456G	probably damaging	Het
Nphp1	A	G	2: 127,595,899 (GRCm39)	M522T	probably benign	Het
Or51k1	T	A	7: 103,661,226 (GRCm39)	M228L	probably benign	Het
Or8k33	C	T	2: 86,383,673 (GRCm39)	S265N	probably benign	Het
Pam	T	A	1: 97,813,465 (GRCm39)	M322L	probably damaging	Het
Pcdhgb1	C	A	18: 37,814,854 (GRCm39)	H448Q	probably benign	Het
Pcnt	T	C	10: 76,247,194 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,449,593 (GRCm39)	D142E	probably benign	Het
Pomgnt2	C	T	9: 121,812,589 (GRCm39)	G64D	probably damaging	Het
Sds	A	T	5: 120,619,716 (GRCm39)		probably null	Het
Sirpb1b	G	T	3: 15,607,230 (GRCm39)	Q351K	probably benign	Het
Slc2a12	T	A	10: 22,541,453 (GRCm39)	M436K	probably benign	Het
Slc9a5	G	A	8: 106,095,025 (GRCm39)	G872D	probably benign	Het
Stxbp2	T	G	8: 3,682,583 (GRCm39)	S57R	probably benign	Het
Sult2a6	T	A	7: 13,956,445 (GRCm39)	D272V	probably benign	Het
Supt5	A	G	7: 28,023,325 (GRCm39)	M318T	probably benign	Het
Tdpoz3	T	C	3: 93,733,772 (GRCm39)	V149A	probably damaging	Het
Tead2	T	A	7: 44,869,871 (GRCm39)	S124T	possibly damaging	Het
Tssc4	T	A	7: 142,624,139 (GRCm39)	V149D	probably damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Uspl1	A	G	5: 149,124,588 (GRCm39)	T2A	possibly damaging	Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn1r37	T	C	6: 66,708,883 (GRCm39)	Y170H	probably benign	Het
Vnn3	T	A	10: 23,727,513 (GRCm39)	V11E	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfhx3	T	C	8: 109,674,839 (GRCm39)	V1963A	possibly damaging	Het
Zfp324	C	A	7: 12,700,198 (GRCm39)	A19E	probably benign	Het
Zfyve26	T	C	12: 79,325,888 (GRCm39)	S784G	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
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'- TCTGCGAGTTCATCAGCAACC -3'
(R):5'- ACTTGATGAGCGACGTGGTG -3'

Sequencing Primer
(F):5'- CGTACTACCGGGAGAAGTTC -3'
(R):5'- TAGCGCGTACGGGTACTG -3'

Posted On

2019-05-15