Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Ftmt'

103712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ftmt

Ensembl Gene

ENSMUSG00000024510

Gene Name

ferritin mitochondrial

Synonyms

Fth3, mitochondrial ferritin, MtF, 4930447C24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

52464621-52466068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52465206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 174 (H174L)

Ref Sequence

ENSEMBL: ENSMUSP00000025388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025388]

AlphaFold

Q9D5H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025388
AA Change: H174L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025388
Gene: ENSMUSG00000024510
AA Change: H174L

Domain	Start	End	E-Value	Type
Pfam:Ferritin	73	214	1.3e-37	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Ftmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Ftmt	APN	18	52,465,185 (GRCm39)	missense	probably damaging	0.96
IGL02111:Ftmt	APN	18	52,465,125 (GRCm39)	missense	possibly damaging	0.77
IGL02472:Ftmt	APN	18	52,464,912 (GRCm39)	missense	possibly damaging	0.92
IGL02490:Ftmt	APN	18	52,464,760 (GRCm39)	missense	probably benign	0.00
IGL03181:Ftmt	APN	18	52,464,953 (GRCm39)	missense	probably damaging	0.97
R4867:Ftmt	UTSW	18	52,465,125 (GRCm39)	missense	possibly damaging	0.77
R4899:Ftmt	UTSW	18	52,464,658 (GRCm39)	start gained	probably benign
R6238:Ftmt	UTSW	18	52,465,307 (GRCm39)	missense	probably damaging	0.99
R6699:Ftmt	UTSW	18	52,464,737 (GRCm39)	missense	possibly damaging	0.87
R7057:Ftmt	UTSW	18	52,465,180 (GRCm39)	missense	probably benign	0.04
R7270:Ftmt	UTSW	18	52,465,091 (GRCm39)	missense	probably benign	0.10
R9006:Ftmt	UTSW	18	52,465,112 (GRCm39)	missense	possibly damaging	0.48

Posted On

2014-01-21