Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00485:Ftdc2'

5788

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 #

IGL00485

Quality Score

Status

Chromosome

Chromosomal Location

58455625-58458766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58455854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 140 (Y140H)

Ref Sequence

ENSEMBL: ENSMUSP00000056475 (fasta)

Gene Model

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

AlphaFold

Q8BU47

Predicted Effect

probably damaging
Transcript: ENSMUST00000053249
AA Change: Y140H

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

SMART Domains

Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: Y140H

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	G	A	11: 97,383,497 (GRCm39)		probably benign	Het
Arhgef37	G	A	18: 61,656,942 (GRCm39)	T41I	probably damaging	Het
Brms1	A	C	19: 5,099,070 (GRCm39)		probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Col4a2	A	G	8: 11,489,012 (GRCm39)	M1133V	probably benign	Het
Ctps1	T	C	4: 120,410,141 (GRCm39)	Y314C	probably damaging	Het
Defa30	T	A	8: 21,625,467 (GRCm39)	M77K	probably benign	Het
Eif3a	T	C	19: 60,758,328 (GRCm39)	R817G	unknown	Het
Entrep1	G	A	19: 23,962,086 (GRCm39)	R306W	probably damaging	Het
Greb1l	A	G	18: 10,555,962 (GRCm39)	S1725G	possibly damaging	Het
Hmgxb4	T	C	8: 75,756,131 (GRCm39)	S545P	probably damaging	Het
Hrob	C	T	11: 102,146,783 (GRCm39)	S353F	possibly damaging	Het
Kif13b	A	G	14: 65,002,522 (GRCm39)	E1049G	possibly damaging	Het
Mug1	T	C	6: 121,864,375 (GRCm39)	V1424A	probably benign	Het
Nlrp2	A	G	7: 5,340,547 (GRCm39)	V89A	probably benign	Het
Osbpl11	T	G	16: 33,062,115 (GRCm39)	W741G	probably damaging	Het
Pam	A	G	1: 97,750,678 (GRCm39)	V914A	possibly damaging	Het
Phldb2	T	A	16: 45,577,551 (GRCm39)	I1117F	possibly damaging	Het
Pign	A	T	1: 105,525,448 (GRCm39)	L460*	probably null	Het
Pramel31	G	A	4: 144,090,012 (GRCm39)	V351I	probably damaging	Het
Prdm10	A	T	9: 31,238,842 (GRCm39)	I196F	possibly damaging	Het
Stk36	T	C	1: 74,673,244 (GRCm39)	S1044P	probably benign	Het
Trim43b	T	C	9: 88,973,695 (GRCm39)	T13A	probably benign	Het
Unc5b	T	C	10: 60,618,995 (GRCm39)	Y49C	possibly damaging	Het
Urb2	T	C	8: 124,755,433 (GRCm39)	I380T	probably damaging	Het
Zfyve27	T	A	19: 42,171,872 (GRCm39)	C229S	probably benign	Het

Other mutations in Ftdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ftdc2	APN	16	58,458,059 (GRCm39)	missense	probably benign	0.03
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

2012-04-20