Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Fdx1'

581219

Institutional Source

Beutler Lab

Gene Symbol

Fdx1

Ensembl Gene

ENSMUSG00000032051

Gene Name

ferredoxin 1

Synonyms

ADRENODOXIN

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51854606-51874856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51859898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 144 (L144R)

Ref Sequence

ENSEMBL: ENSMUSP00000034552 (fasta)

Gene Model

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

AlphaFold

P46656

Predicted Effect

probably damaging
Transcript: ENSMUST00000034552
AA Change: L144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034552
Gene: ENSMUSG00000032051
AA Change: L144R

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: L144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214486
AA Change: L37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7079

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	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
R0844:Fdx1	UTSW	9	51,859,909 (GRCm39)	missense	probably damaging	1.00
R4615:Fdx1	UTSW	9	51,859,945 (GRCm39)	nonsense	probably null
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'- CCCTTTTAAGTGTGCAGCTGATTC -3'

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

Posted On

2019-10-17