Mutagenetix > Incidental Mutation

Incidental Mutation 'R0844:Fdx1'

77294

Institutional Source

Beutler Lab

Gene Symbol

Fdx1

Ensembl Gene

ENSMUSG00000032051

Gene Name

ferredoxin 1

Synonyms

ADRENODOXIN

MMRRC Submission

039023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51854606-51874856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51859909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 33 (D33E)

Ref Sequence

ENSEMBL: ENSMUSP00000150644 (fasta)

Gene Model

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

AlphaFold

P46656

Predicted Effect

probably damaging
Transcript: ENSMUST00000034552
AA Change: D140E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034552
Gene: ENSMUSG00000032051
AA Change: D140E

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 damaging
Transcript: ENSMUST00000214013
AA Change: D140E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214486
AA Change: D33E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.5908

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

100% (27/27)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	C	12: 55,126,858 (GRCm39)	D2G	possibly damaging	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Asb2	T	C	12: 103,291,805 (GRCm39)	H374R	probably damaging	Het
Clca4b	A	G	3: 144,622,532 (GRCm39)	I511T	probably damaging	Het
Cnmd	G	A	14: 79,879,391 (GRCm39)	T249I	probably benign	Het
Cyp4a12b	T	G	4: 115,289,721 (GRCm39)	M196R	possibly damaging	Het
Ddx60	T	C	8: 62,440,395 (GRCm39)	Y1016H	probably benign	Het
Elapor1	T	C	3: 108,388,279 (GRCm39)		probably benign	Het
Ero1a	A	G	14: 45,530,457 (GRCm39)	L325P	probably damaging	Het
Etv1	T	C	12: 38,911,353 (GRCm39)	L393P	probably damaging	Het
Gpr180	T	C	14: 118,395,359 (GRCm39)	C264R	probably damaging	Het
Grik2	A	T	10: 48,977,211 (GRCm39)	M907K	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klrh1	C	G	6: 129,752,756 (GRCm39)	K16N	possibly damaging	Het
Mpdz	A	G	4: 81,339,431 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,743,119 (GRCm39)	S60L	probably benign	Het
Naxe	A	T	3: 87,965,715 (GRCm39)	V28E	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Otog	T	C	7: 45,937,252 (GRCm39)	S1654P	possibly damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,912,101 (GRCm39)	T324A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tbc1d12	G	T	19: 38,825,515 (GRCm39)	R122L	probably benign	Het
Tmx4	A	G	2: 134,441,928 (GRCm39)		probably null	Het
Trnt1	A	G	6: 106,751,464 (GRCm39)	D147G	probably damaging	Het
Trpm7	A	T	2: 126,677,428 (GRCm39)	V463E	probably damaging	Het
Wdr82	G	A	9: 106,065,780 (GRCm39)		probably benign	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
IGL01797:Fdx1	APN	9	51,854,925 (GRCm39)	nonsense	probably null
R0492:Fdx1	UTSW	9	51,874,725 (GRCm39)	missense	probably benign	0.24
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

Predicted Primers

PCR Primer
(F):5'- TGCTATACCCACAAGGGCACTTCTAC -3'
(R):5'- GGCGACCTATTCCTGACTCATGATTAC -3'

Sequencing Primer
(F):5'- AAGGGCACTTCTACTCATGCG -3'
(R):5'- CAGCCCTTTTAAGTGTGCAG -3'

Posted On

2013-10-16