Mutagenetix > Incidental Mutation

Incidental Mutation 'R2201:Fdxr'

318093

Institutional Source

Beutler Lab

Gene Symbol

Fdxr

Ensembl Gene

ENSMUSG00000018861

Gene Name

ferredoxin reductase

Synonyms

MMRRC Submission

040203-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R2201 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115158850-115167876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115161208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 223 (V223L)

Ref Sequence

ENSEMBL: ENSMUSP00000021078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000021078] [ENSMUST00000106554]

AlphaFold

Q61578

Predicted Effect

probably benign
Transcript: ENSMUST00000003351

SMART Domains

Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	99	299	5.1e-12	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	924	6.8e-15	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

probably benign
Transcript: ENSMUST00000021078
AA Change: V223L

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861
AA Change: V223L

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

Meta Mutation Damage Score

0.2376

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,268 (GRCm39)	N1121K	probably null	Het
Actr10	A	G	12: 71,006,795 (GRCm39)	N351D	probably damaging	Het
Adcy7	G	A	8: 89,044,606 (GRCm39)	A500T	probably damaging	Het
Ankrd35	T	C	3: 96,586,564 (GRCm39)	I80T	possibly damaging	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cc2d2a	T	C	5: 43,841,375 (GRCm39)		probably benign	Het
Cep85l	A	T	10: 53,224,827 (GRCm39)	M254K	probably benign	Het
Clic4	A	G	4: 134,950,850 (GRCm39)	S114P	probably damaging	Het
Ctsj	T	C	13: 61,150,363 (GRCm39)	Y213C	probably damaging	Het
Ddx28	A	G	8: 106,737,206 (GRCm39)	V284A	probably damaging	Het
Dnase2b	T	A	3: 146,290,443 (GRCm39)	D176V	probably damaging	Het
Dsg2	T	A	18: 20,729,111 (GRCm39)	N663K	probably damaging	Het
Dst	T	A	1: 34,235,002 (GRCm39)	S3694T	possibly damaging	Het
Emilin1	T	C	5: 31,073,036 (GRCm39)	S158P	probably benign	Het
Eng	T	C	2: 32,563,752 (GRCm39)		probably benign	Het
Entrep2	T	A	7: 64,409,141 (GRCm39)	M418L	probably benign	Het
Fhip1b	T	C	7: 105,037,398 (GRCm39)	N395S	probably damaging	Het
Frem2	T	A	3: 53,423,994 (GRCm39)	M3148L	probably benign	Het
Hip1	A	T	5: 135,460,584 (GRCm39)	D114E	probably benign	Het
Itga9	T	C	9: 118,706,183 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,437,179 (GRCm39)	N487K	probably damaging	Het
Krt6a	A	G	15: 101,601,606 (GRCm39)	F172L	probably benign	Het
Megf8	C	T	7: 25,040,170 (GRCm39)	R1034W	probably damaging	Het
Muc6	C	T	7: 141,236,075 (GRCm39)	D451N	probably damaging	Het
Myo5a	A	G	9: 75,125,225 (GRCm39)	T1838A	possibly damaging	Het
N4bp2l2	A	T	5: 150,585,073 (GRCm39)	D302E	probably damaging	Het
Nbeal2	T	A	9: 110,459,318 (GRCm39)	I1930F	probably benign	Het
Nhsl3	A	G	4: 129,116,432 (GRCm39)	V732A	probably benign	Het
Npas4	A	T	19: 5,037,392 (GRCm39)	Y301N	probably benign	Het
Nt5m	A	G	11: 59,766,741 (GRCm39)	K211E	probably benign	Het
Pfn4	A	G	12: 4,824,382 (GRCm39)		probably null	Het
Pfpl	A	C	19: 12,407,843 (GRCm39)	D698A	probably benign	Het
Pias1	G	T	9: 62,859,137 (GRCm39)	H124N	possibly damaging	Het
Pja2	A	T	17: 64,618,162 (GRCm39)		probably benign	Het
Polr3e	T	C	7: 120,531,465 (GRCm39)	Y185H	probably benign	Het
Pomc	T	C	12: 4,010,275 (GRCm39)	L172S	probably benign	Het
Rapgef4	A	G	2: 71,875,533 (GRCm39)	T129A	probably damaging	Het
Reep1	T	C	6: 71,750,278 (GRCm39)	S97P	probably damaging	Het
Rttn	T	A	18: 89,029,067 (GRCm39)	I595N	possibly damaging	Het
Sap30	T	C	8: 57,938,506 (GRCm39)		probably null	Het
Slc1a7	T	C	4: 107,850,203 (GRCm39)	Y105H	probably damaging	Het
Slc5a5	C	T	8: 71,345,102 (GRCm39)	M68I	probably damaging	Het
Stab2	T	A	10: 86,776,503 (GRCm39)	Y791F	probably benign	Het
Tdrd1	C	A	19: 56,847,094 (GRCm39)	H912N	probably benign	Het
Tdrd1	C	A	19: 56,847,093 (GRCm39)	S911R	probably benign	Het
Tgm7	A	T	2: 120,929,062 (GRCm39)	F278Y	probably damaging	Het
Tln2	T	C	9: 67,283,039 (GRCm39)	T310A	probably damaging	Het
Tmem256	T	C	11: 69,730,271 (GRCm39)	I93T	probably benign	Het
Trpm2	G	A	10: 77,756,305 (GRCm39)	Q1172*	probably null	Het
Ttll8	A	G	15: 88,818,156 (GRCm39)	V173A	possibly damaging	Het
Ubr5	T	C	15: 38,002,543 (GRCm39)	S1497G	possibly damaging	Het
Ubr7	G	A	12: 102,727,764 (GRCm39)		probably null	Het
Vmn1r37	T	A	6: 66,708,878 (GRCm39)	M1K	probably null	Het
Vmn2r14	A	G	5: 109,366,698 (GRCm39)		probably null	Het
Vmn2r72	T	C	7: 85,387,444 (GRCm39)	I707V	probably benign	Het
Vps8	A	G	16: 21,395,507 (GRCm39)	R1266G	probably damaging	Het
Wdr87-ps	T	A	7: 29,235,950 (GRCm39)		noncoding transcript	Het
Zfhx4	A	G	3: 5,307,349 (GRCm39)	N192D	probably damaging	Het
Zfp638	G	C	6: 83,906,500 (GRCm39)	D222H	probably damaging	Het
Zscan29	A	C	2: 120,999,883 (GRCm39)	V106G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAACTGAATCATCTCCCG -3'
(R):5'- AGACCGACTAGCCTTGCAAG -3'

Sequencing Primer
(F):5'- GAATCATCTCCCGAAGCTCCTTGAG -3'
(R):5'- CAAGGTCAGATATTTAGCCGTGGC -3'

Posted On

2015-05-20