Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00895:Ftdc2'

29125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ftdc2

Ensembl Gene

ENSMUSG00000055789

Gene Name

ferritin domain containing 2

Synonyms

Ftdc, E330017A01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL00895

Quality Score

Status

Chromosome

Chromosomal Location

58455625-58458766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58458059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 81 (Y81N)

Ref Sequence

ENSEMBL: ENSMUSP00000056475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053249]

AlphaFold

Q8BU47

Predicted Effect

probably benign
Transcript: ENSMUST00000053249
AA Change: Y81N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: Y81N

Domain	Start	End	E-Value	Type
Pfam:Ferritin	12	149	3.2e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl6ip6	T	A	2: 53,092,936 (GRCm39)	W154R	probably damaging	Het
Ccnc	T	A	4: 21,742,642 (GRCm39)	Y156*	probably null	Het
Clca3a1	A	C	3: 144,730,357 (GRCm39)	W163G	probably damaging	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Cpn2	C	T	16: 30,079,338 (GRCm39)	S121N	probably benign	Het
Dcc	T	C	18: 71,943,871 (GRCm39)	E260G	probably damaging	Het
Dnah6	A	T	6: 73,133,333 (GRCm39)	N1091K	possibly damaging	Het
Dpp9	G	T	17: 56,512,240 (GRCm39)	F249L	probably damaging	Het
Dscaml1	A	G	9: 45,662,551 (GRCm39)	D1839G	probably damaging	Het
Esr1	C	T	10: 4,997,890 (GRCm38)	R481L	probably benign	Het
Frem2	G	T	3: 53,493,016 (GRCm39)	D1833E	probably damaging	Het
Ica1	T	C	6: 8,653,514 (GRCm39)	D343G	probably benign	Het
Il27	T	C	7: 126,188,555 (GRCm39)	H206R	probably benign	Het
Med14	A	G	X: 12,547,039 (GRCm39)	V723A	probably damaging	Het
Msh3	C	A	13: 92,481,472 (GRCm39)	G347C	probably damaging	Het
Nfasc	T	A	1: 132,501,536 (GRCm39)	K1262*	probably null	Het
Nlrp9a	A	T	7: 26,258,103 (GRCm39)	M485L	probably benign	Het
Or4c111	A	G	2: 88,843,953 (GRCm39)	F152L	probably benign	Het
Or4f60	A	G	2: 111,902,100 (GRCm39)	V276A	probably damaging	Het
Pcdhb5	T	G	18: 37,454,036 (GRCm39)	L139V	probably benign	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Scn5a	G	T	9: 119,342,170 (GRCm39)		probably null	Het
Senp7	G	T	16: 55,902,740 (GRCm39)	R21L	probably damaging	Het
Ssb	G	A	2: 69,696,606 (GRCm39)	V47I	probably benign	Het
Ttll8	T	A	15: 88,817,731 (GRCm39)	S221C	probably damaging	Het

Other mutations in Ftdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Ftdc2	APN	16	58,455,854 (GRCm39)	missense	probably damaging	0.99
IGL03025:Ftdc2	APN	16	58,458,076 (GRCm39)	missense	probably damaging	0.99
R0833:Ftdc2	UTSW	16	58,455,886 (GRCm39)	missense	probably damaging	0.96
R0836:Ftdc2	UTSW	16	58,455,886 (GRCm39)	missense	probably damaging	0.96
R1213:Ftdc2	UTSW	16	58,458,057 (GRCm39)	nonsense	probably null
R5817:Ftdc2	UTSW	16	58,457,156 (GRCm39)	missense	probably benign	0.22
R7122:Ftdc2	UTSW	16	58,458,140 (GRCm39)	missense	probably benign	0.02
R9441:Ftdc2	UTSW	16	58,458,884 (GRCm39)	start gained	probably benign

Posted On

2013-04-17