Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03195:Fdxr'

412792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fdxr

Ensembl Gene

ENSMUSG00000018861

Gene Name

ferredoxin reductase

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

115158850-115167876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115166918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 57 (Q57R)

Ref Sequence

ENSEMBL: ENSMUSP00000021078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021078] [ENSMUST00000056153]

AlphaFold

Q61578

Predicted Effect

probably benign
Transcript: ENSMUST00000021078
AA Change: Q57R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861
AA Change: Q57R

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
Pfam:Pyr_redox_2	41	246	2.9e-10	PFAM
low complexity region	273	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056153

SMART Domains

Protein: ENSMUSP00000058783
Gene: ENSMUSG00000044788

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
Pfam:FA_desaturase	62	313	3.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155130

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,903,607 (GRCm39)	D1086G	possibly damaging	Het
Ahcyl2	T	C	6: 29,906,768 (GRCm39)		probably benign	Het
Ankrd42	T	A	7: 92,241,066 (GRCm39)	Q431L	probably benign	Het
Arhgap12	A	T	18: 6,031,766 (GRCm39)	F592I	probably damaging	Het
Arhgef28	A	G	13: 98,088,071 (GRCm39)		probably null	Het
Boc	A	G	16: 44,313,184 (GRCm39)	F560S	probably damaging	Het
Ccdc81	A	T	7: 89,545,916 (GRCm39)	V96E	probably benign	Het
Cep162	C	T	9: 87,107,839 (GRCm39)	S517N	probably benign	Het
Cntnap5a	A	G	1: 116,085,178 (GRCm39)	N372S	probably benign	Het
Dnah7a	G	A	1: 53,458,766 (GRCm39)	R3791C	probably damaging	Het
Fsip2l	T	A	X: 47,961,825 (GRCm39)	Q296L	possibly damaging	Het
G3bp2	A	G	5: 92,216,367 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,678,660 (GRCm39)	T487I	probably benign	Het
Kpna7	A	T	5: 144,933,847 (GRCm39)	I282N	probably damaging	Het
Lif	A	T	11: 4,219,201 (GRCm39)	Y160F	probably damaging	Het
Lrp1b	A	T	2: 41,361,134 (GRCm39)	D556E	possibly damaging	Het
Myom2	G	T	8: 15,161,844 (GRCm39)	E954*	probably null	Het
Nr6a1	A	T	2: 38,632,948 (GRCm39)	I171N	probably damaging	Het
Nup210	C	A	6: 90,992,832 (GRCm39)	R1059L	probably benign	Het
Or11g27	A	G	14: 50,770,877 (GRCm39)	T3A	probably benign	Het
Or2ag16	A	G	7: 106,351,980 (GRCm39)	I205T	probably benign	Het
Or2w25	G	A	11: 59,504,629 (GRCm39)	V280M	probably damaging	Het
Or5ak4	A	T	2: 85,161,864 (GRCm39)	I126N	probably damaging	Het
Or5aq6	A	T	2: 86,922,913 (GRCm39)	V276E	probably damaging	Het
Ostm1	T	C	10: 42,574,213 (GRCm39)	V302A	probably damaging	Het
Oxct1	A	G	15: 4,130,671 (GRCm39)	M388V	possibly damaging	Het
Ppp6r2	G	A	15: 89,152,758 (GRCm39)	V300I	possibly damaging	Het
Prmt1	T	C	7: 44,626,995 (GRCm39)	Y205C	probably damaging	Het
Slc45a4	A	C	15: 73,456,272 (GRCm39)	V636G	possibly damaging	Het
Spata18	T	A	5: 73,828,591 (GRCm39)	L270Q	probably damaging	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Thsd7b	G	A	1: 129,556,646 (GRCm39)	C334Y	probably damaging	Het
Tmtc3	C	T	10: 100,294,896 (GRCm39)	V406M	probably benign	Het
Trpc5	T	A	X: 143,165,724 (GRCm39)	M900L	probably benign	Het
Ttc9c	T	C	19: 8,793,344 (GRCm39)	K99E	probably benign	Het
Vmn1r73	A	G	7: 11,491,007 (GRCm39)	E275G	probably damaging	Het

Other mutations in Fdxr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Fdxr	APN	11	115,160,402 (GRCm39)	missense	probably benign
IGL02524:Fdxr	APN	11	115,162,086 (GRCm39)	critical splice donor site	probably null
R0371:Fdxr	UTSW	11	115,166,915 (GRCm39)	missense	possibly damaging	0.66
R0749:Fdxr	UTSW	11	115,167,671 (GRCm39)	missense	probably benign
R1165:Fdxr	UTSW	11	115,162,608 (GRCm39)	unclassified	probably benign
R1819:Fdxr	UTSW	11	115,166,930 (GRCm39)	missense	probably damaging	0.96
R2201:Fdxr	UTSW	11	115,161,208 (GRCm39)	missense	probably benign	0.41
R2507:Fdxr	UTSW	11	115,162,806 (GRCm39)	missense	probably damaging	0.98
R2508:Fdxr	UTSW	11	115,162,806 (GRCm39)	missense	probably damaging	0.98
R3701:Fdxr	UTSW	11	115,160,527 (GRCm39)	missense	probably damaging	0.99
R5004:Fdxr	UTSW	11	115,160,399 (GRCm39)	missense	probably benign	0.05
R5333:Fdxr	UTSW	11	115,163,084 (GRCm39)	missense	probably benign	0.13
R5944:Fdxr	UTSW	11	115,160,672 (GRCm39)	missense	probably benign
R7124:Fdxr	UTSW	11	115,160,403 (GRCm39)	missense	probably benign	0.00
R7460:Fdxr	UTSW	11	115,167,680 (GRCm39)	missense	probably benign
R7780:Fdxr	UTSW	11	115,167,656 (GRCm39)	missense	probably benign	0.00
R8053:Fdxr	UTSW	11	115,160,665 (GRCm39)	missense	probably benign	0.06
R8254:Fdxr	UTSW	11	115,162,144 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02