Mutagenetix > Incidental Mutation

Incidental Mutation 'R4615:Fdx1'

345031

Institutional Source

Beutler Lab

Gene Symbol

Fdx1

Ensembl Gene

ENSMUSG00000032051

Gene Name

ferredoxin 1

Synonyms

ADRENODOXIN

MMRRC Submission

041826-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51854606-51874856 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51859945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 21 (Y21*)

Ref Sequence

ENSEMBL: ENSMUSP00000150644 (fasta)

Gene Model

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

AlphaFold

P46656

Predicted Effect

probably null
Transcript: ENSMUST00000034552
AA Change: Y128*

SMART Domains

Protein: ENSMUSP00000034552
Gene: ENSMUSG00000032051
AA Change: Y128*

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 null
Transcript: ENSMUST00000214013
AA Change: Y128*

Predicted Effect

probably null
Transcript: ENSMUST00000214486
AA Change: Y21*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Abcc9	C	G	6: 142,634,833 (GRCm39)	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,642,688 (GRCm39)		probably null	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,919,598 (GRCm39)	E119D	probably benign	Het
Atp8b1	T	C	18: 64,686,170 (GRCm39)	N671S	probably null	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Carmil2	A	G	8: 106,421,706 (GRCm39)	D1019G	possibly damaging	Het
Cdh8	A	T	8: 100,006,254 (GRCm39)	I111K	probably damaging	Het
Cep120	T	C	18: 53,847,913 (GRCm39)	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,755,857 (GRCm39)	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnga1	A	C	5: 72,762,117 (GRCm39)	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,481,137 (GRCm39)	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,433,560 (GRCm39)	S1117P	probably damaging	Het
Cyp2b9	T	A	7: 25,900,550 (GRCm39)	L396Q	probably damaging	Het
Cyp8b1	A	T	9: 121,745,164 (GRCm39)	L56*	probably null	Het
Dcbld2	A	G	16: 58,276,457 (GRCm39)	T458A	probably benign	Het
Dio2	G	T	12: 90,696,595 (GRCm39)	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,208,236 (GRCm39)	Y990C	probably damaging	Het
Dsc3	T	C	18: 20,104,545 (GRCm39)	D594G	possibly damaging	Het
Dsp	A	G	13: 38,375,608 (GRCm39)	E1131G	probably damaging	Het
Gal3st4	A	G	5: 138,264,525 (GRCm39)	V158A	probably damaging	Het
Gm10269	T	A	18: 20,815,820 (GRCm39)	E67D	probably benign	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Gng2	C	T	14: 19,941,395 (GRCm39)	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itprid2	A	G	2: 79,492,726 (GRCm39)	E1091G	probably damaging	Het
Lama2	C	A	10: 26,857,520 (GRCm39)	V3110F	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Ncapg	A	T	5: 45,844,741 (GRCm39)	M579L	probably benign	Het
Oog3	A	T	4: 143,884,899 (GRCm39)	Y346N	probably benign	Het
Or10ak14	T	C	4: 118,611,334 (GRCm39)	T134A	probably benign	Het
Or14c39	T	C	7: 86,343,936 (GRCm39)	S91P	probably damaging	Het
Orm2	A	G	4: 63,281,536 (GRCm39)	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,441,553 (GRCm39)	S288T	probably benign	Het
Pcsk2	G	T	2: 143,637,889 (GRCm39)	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,428,398 (GRCm39)	I138M	probably damaging	Het
Pde8a	T	C	7: 80,970,485 (GRCm39)	W536R	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Plcl1	A	T	1: 55,737,293 (GRCm39)	N878I	probably benign	Het
Prkdc	A	T	16: 15,480,938 (GRCm39)	D353V	probably damaging	Het
Psme4	C	T	11: 30,784,287 (GRCm39)	T954I	probably benign	Het
Ran	A	G	5: 129,099,162 (GRCm39)	I115V	probably benign	Het
Reln	A	G	5: 22,177,870 (GRCm39)	L1867P	possibly damaging	Het
S100a1	A	G	3: 90,418,562 (GRCm39)	V84A	possibly damaging	Het
Sall2	G	A	14: 52,550,207 (GRCm39)	P994L	probably benign	Het
Shtn1	A	T	19: 59,010,648 (GRCm39)	I273N	probably benign	Het
Slc17a9	T	C	2: 180,373,699 (GRCm39)	I40T	probably benign	Het
Slc29a2	T	C	19: 5,079,292 (GRCm39)	V305A	probably damaging	Het
Taar2	T	A	10: 23,817,263 (GRCm39)	F268I	probably benign	Het
Taf3	G	A	2: 9,956,901 (GRCm39)	T422I	probably damaging	Het
Tgs1	T	C	4: 3,585,156 (GRCm39)	F99L	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Ttn	A	G	2: 76,597,219 (GRCm39)	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,936,912 (GRCm39)	T3N	probably damaging	Het
Vars1	A	T	17: 35,232,857 (GRCm39)	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,441,348 (GRCm39)	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,316,229 (GRCm39)	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,441,528 (GRCm39)	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,932,122 (GRCm39)	V358A	possibly 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
IGL01797:Fdx1	APN	9	51,854,925 (GRCm39)	nonsense	probably null
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
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'- ACACAGACTTTTCCAGGTTGTTG -3'
(R):5'- CAGCCCTTTTAAGTGTGCAG -3'

Sequencing Primer
(F):5'- CCTGACAAGGCAGGTTTTGTGC -3'
(R):5'- AGTGTGCAGCTGATTCTAAAAC -3'

Posted On

2015-09-25