Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01797:Fdx1'

155400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fdx1

Ensembl Gene

ENSMUSG00000032051

Gene Name

ferredoxin 1

Synonyms

ADRENODOXIN

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01797

Quality Score

Status

Chromosome

Chromosomal Location

51854606-51874856 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51854925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 159 (C159*)

Ref Sequence

ENSEMBL: ENSMUSP00000034552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034552] [ENSMUST00000214013] [ENSMUST00000214486]

AlphaFold

P46656

Predicted Effect

probably null
Transcript: ENSMUST00000034552
AA Change: C159*

SMART Domains

Protein: ENSMUSP00000034552
Gene: ENSMUSG00000032051
AA Change: C159*

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:Fer2	76	161	4.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214013

Predicted Effect

probably benign
Transcript: ENSMUST00000214486

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Ferrodoxins are iron-sulfur proteins that facilitate monooxygenase reactions catalyzed by P450 enzymes. The protein encoded by this gene is present in the mitochondrial matrix and transfers electrons from ferredoxin reductase to steroidogenic mitochondrial cytochrome P450 proteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,113,760 (GRCm39)	V877A	probably benign	Het
Clcn2	T	C	16: 20,531,511 (GRCm39)	I178V	probably damaging	Het
Cnbp	A	G	6: 87,822,542 (GRCm39)		probably benign	Het
Coq8a	A	T	1: 179,997,284 (GRCm39)		probably null	Het
Dctn2	A	G	10: 127,113,182 (GRCm39)	D244G	possibly damaging	Het
Dync1h1	T	A	12: 110,618,630 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Faiml	T	C	9: 99,116,442 (GRCm39)	K83E	probably damaging	Het
Fgd3	A	T	13: 49,443,065 (GRCm39)	V169E	probably damaging	Het
Ice1	G	T	13: 70,772,065 (GRCm39)	T51K	probably damaging	Het
Iqca1	A	C	1: 90,072,541 (GRCm39)		probably null	Het
Jup	C	A	11: 100,272,498 (GRCm39)		probably benign	Het
Krt84	A	G	15: 101,436,915 (GRCm39)	V373A	possibly damaging	Het
Ndst4	T	A	3: 125,476,802 (GRCm39)	M9K	probably damaging	Het
Nomo1	T	C	7: 45,706,086 (GRCm39)	V480A	probably damaging	Het
Nsun5	A	G	5: 135,404,225 (GRCm39)	H344R	probably damaging	Het
Or13a21	A	G	7: 139,998,931 (GRCm39)	Y252H	probably damaging	Het
Or1e1f	A	T	11: 73,855,644 (GRCm39)	D70V	probably damaging	Het
Pjvk	T	C	2: 76,487,883 (GRCm39)		probably benign	Het
Prkaa1	G	A	15: 5,198,187 (GRCm39)	D159N	probably damaging	Het
Sap130	T	A	18: 31,831,721 (GRCm39)	I736N	probably damaging	Het
Tlcd1	A	G	11: 78,071,160 (GRCm39)		probably null	Het
Tpp1	T	C	7: 105,398,459 (GRCm39)	I286V	probably benign	Het
Ttll5	T	A	12: 86,003,371 (GRCm39)	I1069K	possibly damaging	Het
Ttn	T	G	2: 76,540,257 (GRCm39)	E34243A	possibly damaging	Het
Uqcr10	A	C	11: 4,654,179 (GRCm39)	I43S	possibly damaging	Het
Ush2a	T	A	1: 187,995,706 (GRCm39)	M159K	probably damaging	Het
Vmn2r121	G	A	X: 123,041,048 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,195 (GRCm39)	D147V	probably benign	Het
Xntrpc	T	C	7: 101,739,753 (GRCm39)	I559T	possibly damaging	Het
Zfp268	T	A	4: 145,347,241 (GRCm39)	N48K	probably damaging	Het

Other mutations in Fdx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Fdx1	APN	9	51,859,949 (GRCm39)	missense	probably damaging	0.98
R0492:Fdx1	UTSW	9	51,874,725 (GRCm39)	missense	probably benign	0.24
R0844:Fdx1	UTSW	9	51,859,909 (GRCm39)	missense	probably damaging	1.00
R4615:Fdx1	UTSW	9	51,859,945 (GRCm39)	nonsense	probably null
R7498:Fdx1	UTSW	9	51,859,898 (GRCm39)	missense	probably damaging	1.00
R8129:Fdx1	UTSW	9	51,859,926 (GRCm39)	missense	probably benign	0.05
R8223:Fdx1	UTSW	9	51,859,921 (GRCm39)	missense	probably benign	0.07

Posted On

2014-02-04