Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03025:Ftdc2'

408134

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: 0.060) question?

Stock #

IGL03025

Quality Score

Status

Chromosome

Chromosomal Location

58455625-58458766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58458076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 75 (I75S)

Ref Sequence

ENSEMBL: ENSMUSP00000056475 (fasta)

Gene Model

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

AlphaFold

Q8BU47

Predicted Effect

probably damaging
Transcript: ENSMUST00000053249
AA Change: I75S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: I75S

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,315,405 (GRCm39)	N91S	possibly damaging	Het
Adora1	T	C	1: 134,130,807 (GRCm39)	Y288C	probably damaging	Het
Avil	A	T	10: 126,849,446 (GRCm39)	T581S	probably benign	Het
Cacna1h	C	T	17: 25,651,868 (GRCm39)	W92*	probably null	Het
Calr3	A	C	8: 73,188,735 (GRCm39)		probably benign	Het
Cdan1	T	C	2: 120,561,222 (GRCm39)	E181G	probably damaging	Het
Clca4a	T	C	3: 144,663,079 (GRCm39)	N590S	probably benign	Het
Cnga1	T	A	5: 72,762,756 (GRCm39)	I253F	probably benign	Het
Cngb3	T	G	4: 19,283,498 (GRCm39)		probably benign	Het
Cstf3	T	A	2: 104,439,276 (GRCm39)	Y30N	possibly damaging	Het
Cyp2a12	T	A	7: 26,730,631 (GRCm39)	S199T	probably benign	Het
Dlg1	A	G	16: 31,624,545 (GRCm39)	I412V	probably benign	Het
Fasn	C	T	11: 120,708,974 (GRCm39)	V570M	probably benign	Het
Fhit	A	G	14: 10,421,534 (GRCm38)	S85P	probably damaging	Het
Frmd5	T	A	2: 121,383,825 (GRCm39)	M369L	probably benign	Het
Gatb	T	C	3: 85,483,181 (GRCm39)	W63R	probably damaging	Het
Gga1	G	T	15: 78,772,382 (GRCm39)	L227F	probably damaging	Het
Itgb1	A	G	8: 129,449,065 (GRCm39)	N557S	possibly damaging	Het
Ltf	T	C	9: 110,854,169 (GRCm39)	V328A	possibly damaging	Het
Nefh	T	C	11: 4,895,289 (GRCm39)	E300G	probably damaging	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or1m1	T	C	9: 18,666,665 (GRCm39)	N89D	probably benign	Het
Pcdhb13	T	G	18: 37,575,817 (GRCm39)	V65G	probably damaging	Het
Pcdhb4	A	T	18: 37,443,030 (GRCm39)	Y780F	possibly damaging	Het
Plcd3	C	T	11: 102,965,724 (GRCm39)	E503K	probably benign	Het
Rbm6	T	A	9: 107,651,918 (GRCm39)	D903V	possibly damaging	Het
Rnf133	A	G	6: 23,649,134 (GRCm39)	M265T	probably benign	Het
Sbf1	T	C	15: 89,173,848 (GRCm39)	T1775A	probably damaging	Het
Serpina1f	T	A	12: 103,659,805 (GRCm39)	D159V	probably damaging	Het
Skap1	C	A	11: 96,593,508 (GRCm39)	S118R	probably damaging	Het
Slc17a9	C	A	2: 180,381,609 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,950,395 (GRCm39)	S231P	probably damaging	Het
Stac2	A	G	11: 97,934,548 (GRCm39)	F52S	probably damaging	Het
Them7	T	C	2: 105,128,150 (GRCm39)	S44P	probably benign	Het
Tnmd	A	G	X: 132,766,162 (GRCm39)		probably benign	Het
Trdmt1	A	T	2: 13,528,246 (GRCm39)	I105N	probably damaging	Het
Trpc1	C	T	9: 95,592,313 (GRCm39)	G554E	probably damaging	Het
Vmn1r37	A	G	6: 66,708,740 (GRCm39)	Y85C	probably benign	Het
Zim1	T	C	7: 6,685,058 (GRCm39)	T131A	probably benign	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
IGL00895:Ftdc2	APN	16	58,458,059 (GRCm39)	missense	probably benign	0.03
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

2016-08-02