Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Fdx2'

231918

Institutional Source

Beutler Lab

Gene Symbol

Fdx2

Ensembl Gene

ENSMUSG00000079677

Gene Name

ferredoxin 2

Synonyms

B230118G17Rik, Fdx1l

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2093 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

20978808-20984827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20984720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 28 (H28R)

Ref Sequence

ENSEMBL: ENSMUSP00000010348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115487] [ENSMUST00000213826] [ENSMUST00000217359]

AlphaFold

Q9CPW2

Predicted Effect

probably benign
Transcript: ENSMUST00000010348
AA Change: H28R

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677
AA Change: H28R

Domain	Start	End	E-Value	Type
Pfam:Fer2	64	147	5.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115487

SMART Domains

Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
RRM	60	126	1.53e-10	SMART
RRM	133	206	5.66e-14	SMART
RRM	222	295	1.15e-5	SMART
low complexity region	307	318	N/A	INTRINSIC
low complexity region	324	339	N/A	INTRINSIC
low complexity region	343	351	N/A	INTRINSIC
low complexity region	360	396	N/A	INTRINSIC
low complexity region	419	454	N/A	INTRINSIC
low complexity region	460	474	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	637	643	N/A	INTRINSIC
low complexity region	675	699	N/A	INTRINSIC
low complexity region	713	722	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183526

Predicted Effect

probably benign
Transcript: ENSMUST00000213826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216484

Predicted Effect

probably benign
Transcript: ENSMUST00000217359

Predicted Effect

probably benign
Transcript: ENSMUST00000217282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217150

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably damaging	Het

Other mutations in Fdx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Fdx2	APN	9	20,984,558 (GRCm39)	critical splice donor site	probably null
IGL02090:Fdx2	APN	9	20,984,766 (GRCm39)	missense	probably benign	0.00
IGL02207:Fdx2	APN	9	20,979,415 (GRCm39)	critical splice acceptor site	probably null
R1434:Fdx2	UTSW	9	20,984,694 (GRCm39)	missense	probably benign
R4818:Fdx2	UTSW	9	20,979,160 (GRCm39)	missense	possibly damaging	0.95
R5534:Fdx2	UTSW	9	20,984,562 (GRCm39)	missense	probably benign	0.01
R5776:Fdx2	UTSW	9	20,984,778 (GRCm39)	missense	possibly damaging	0.59
R7886:Fdx2	UTSW	9	20,984,623 (GRCm39)	splice site	probably null
R9593:Fdx2	UTSW	9	20,979,097 (GRCm39)	missense	probably damaging	1.00
R9663:Fdx2	UTSW	9	20,984,717 (GRCm39)	missense	probably benign
Z1176:Fdx2	UTSW	9	20,984,788 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGACCCTGGGGACAAACAG -3'
(R):5'- CCAGTGCATCACCTTTGACC -3'

Sequencing Primer
(F):5'- ACAGGGTGCAGGTGCTG -3'
(R):5'- TTTGACCTCACACGGCG -3'

Posted On

2014-09-18