Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02524:Fdxr'

297004

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 #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

115158850-115167876 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 115162086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021078] [ENSMUST00000106554]

AlphaFold

Q61578

Predicted Effect

probably null
Transcript: ENSMUST00000021078

SMART Domains

Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861

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: ENSMUST00000106554

SMART Domains

Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	100	306	6.9e-10	PFAM
PBPe	440	796	1.11e-79	SMART
Lig_chan-Glu_bd	448	500	2.79e-18	SMART
transmembrane domain	816	835	N/A	INTRINSIC
Pfam:NMDAR2_C	837	926	1.1e-13	PFAM
low complexity region	941	975	N/A	INTRINSIC
low complexity region	1041	1058	N/A	INTRINSIC
low complexity region	1063	1076	N/A	INTRINSIC
low complexity region	1173	1182	N/A	INTRINSIC
low complexity region	1194	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147500

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,338,319 (GRCm39)		probably benign	Het
Asap3	A	T	4: 135,965,927 (GRCm39)	T453S	probably damaging	Het
Ccdc110	C	T	8: 46,394,979 (GRCm39)	P290L	probably benign	Het
Ccdc127	A	G	13: 74,501,016 (GRCm39)	N11S	probably damaging	Het
Cd80	T	C	16: 38,303,045 (GRCm39)	V164A	probably benign	Het
Ctnna3	T	C	10: 64,096,605 (GRCm39)	I381T	possibly damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Etnppl	A	G	3: 130,424,320 (GRCm39)		probably benign	Het
Far2	T	A	6: 148,052,156 (GRCm39)	L145Q	probably damaging	Het
Jmy	A	G	13: 93,609,268 (GRCm39)	V347A	probably damaging	Het
Kcns2	A	G	15: 34,838,981 (GRCm39)	I115V	probably benign	Het
Kif2a	A	G	13: 107,100,863 (GRCm39)	L627S	possibly damaging	Het
Krtap26-1	A	G	16: 88,444,367 (GRCm39)	S85P	possibly damaging	Het
Ldlr	C	A	9: 21,644,977 (GRCm39)	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,285,392 (GRCm39)	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,506 (GRCm39)	E61G	probably damaging	Het
Msh2	T	C	17: 87,985,785 (GRCm39)	F121L	probably benign	Het
Myh4	A	G	11: 67,140,066 (GRCm39)	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091 (GRCm39)	F246S	probably benign	Het
Nynrin	C	T	14: 56,108,931 (GRCm39)	A1346V	possibly damaging	Het
Or8k53	A	C	2: 86,177,686 (GRCm39)	C141W	probably damaging	Het
P2rx1	C	T	11: 72,900,474 (GRCm39)	P196L	probably damaging	Het
Pbx3	T	C	2: 34,260,830 (GRCm39)		probably benign	Het
Psen2	A	T	1: 180,073,232 (GRCm39)	S30T	probably benign	Het
Rack1	T	C	11: 48,694,298 (GRCm39)	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,358,511 (GRCm39)	T206A	probably benign	Het
Rrp7a	A	G	15: 83,002,379 (GRCm39)		probably benign	Het
Slco1b2	C	T	6: 141,616,798 (GRCm39)	T377I	probably benign	Het
Spmip11	G	A	15: 98,469,006 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,970,611 (GRCm39)	S162T	possibly damaging	Het
Syt2	A	G	1: 134,669,703 (GRCm39)	K115E	probably benign	Het
Tet1	A	G	10: 62,714,425 (GRCm39)	S457P	probably damaging	Het
Trbv3	A	G	6: 41,025,599 (GRCm39)	E63G	possibly damaging	Het
Unc13d	T	C	11: 115,961,145 (GRCm39)	Y404C	probably damaging	Het
Usp32	G	A	11: 84,900,837 (GRCm39)	R1128*	probably null	Het
Vps4a	G	A	8: 107,763,383 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,980,921 (GRCm39)	H505Q	probably damaging	Het
Ywhab	T	A	2: 163,858,057 (GRCm39)	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,641,022 (GRCm39)	K1241E	probably benign	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
IGL03195:Fdxr	APN	11	115,166,918 (GRCm39)	missense	probably benign	0.29
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

2015-04-16