Mutagenetix > Incidental Mutation

Incidental Mutation 'R5776:Fdx2'

446706

Institutional Source

Beutler Lab

Gene Symbol

Fdx2

Ensembl Gene

ENSMUSG00000079677

Gene Name

ferredoxin 2

Synonyms

B230118G17Rik, Fdx1l

MMRRC Submission

043375-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20978808-20984827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20984778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 9 (V9L)

Ref Sequence

ENSEMBL: ENSMUSP00000010348 (fasta)

Gene Model

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

AlphaFold

Q9CPW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010348
AA Change: V9L

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677
AA Change: V9L

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

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,107,649 (GRCm39)	M378K	possibly damaging	Het
Abca17	A	G	17: 24,514,132 (GRCm39)	V857A	probably benign	Het
Abca9	C	T	11: 109,998,286 (GRCm39)		probably null	Het
Adam22	T	C	5: 8,177,361 (GRCm39)	K583E	probably benign	Het
Akr1c13	T	C	13: 4,244,186 (GRCm39)	F80L	probably damaging	Het
Apob	A	T	12: 8,056,149 (GRCm39)	I1511F	possibly damaging	Het
Ccdc168	T	C	1: 44,095,665 (GRCm39)	E1811G	possibly damaging	Het
Cfh	C	A	1: 140,071,761 (GRCm39)	R291I	possibly damaging	Het
Col1a1	C	T	11: 94,840,550 (GRCm39)	S1114F	unknown	Het
Ctsj	T	C	13: 61,150,956 (GRCm39)	D168G	probably damaging	Het
Erf	T	C	7: 24,945,534 (GRCm39)	D79G	probably damaging	Het
Extl1	T	C	4: 134,085,083 (GRCm39)	N629S	possibly damaging	Het
Fbxo9	T	C	9: 78,002,469 (GRCm39)	E204G	probably damaging	Het
Gfer	G	T	17: 24,915,027 (GRCm39)	S5R	probably benign	Het
Gm15931	A	T	7: 4,284,564 (GRCm39)		noncoding transcript	Het
Gm6309	T	A	5: 146,105,691 (GRCm39)	I158F	possibly damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hacl1	A	T	14: 31,344,828 (GRCm39)	N234K	possibly damaging	Het
Hcn3	C	T	3: 89,055,412 (GRCm39)	A612T	probably benign	Het
Hectd1	T	A	12: 51,810,897 (GRCm39)	E1679D	possibly damaging	Het
Hipk4	T	C	7: 27,228,405 (GRCm39)	L285P	probably damaging	Het
Igsf3	G	A	3: 101,332,796 (GRCm39)	V25I	probably benign	Het
Jade1	A	G	3: 41,568,227 (GRCm39)	H765R	probably benign	Het
Kcnv1	T	C	15: 44,977,963 (GRCm39)	D25G	unknown	Het
Klhl3	A	G	13: 58,152,998 (GRCm39)	S586P	probably benign	Het
L3mbtl2	A	G	15: 81,569,072 (GRCm39)	D582G	probably damaging	Het
Matn2	G	A	15: 34,431,765 (GRCm39)	C835Y	probably damaging	Het
Naa15	A	C	3: 51,367,447 (GRCm39)	D490A	probably damaging	Het
Nab2	T	A	10: 127,500,198 (GRCm39)	Y298F	probably damaging	Het
Nipsnap1	T	A	11: 4,838,919 (GRCm39)	M115K	probably benign	Het
Nlrp5-ps	T	C	7: 14,326,649 (GRCm39)		noncoding transcript	Het
Nol4l	T	G	2: 153,259,741 (GRCm39)	Q211P	probably damaging	Het
Oga	T	C	19: 45,760,363 (GRCm39)	E265G	probably damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Or6k14	A	T	1: 173,927,339 (GRCm39)	H105L	probably damaging	Het
Pkhd1	T	C	1: 20,279,409 (GRCm39)	K2970E	possibly damaging	Het
Plin4	T	C	17: 56,411,983 (GRCm39)	T683A	probably damaging	Het
Ppm1g	T	C	5: 31,362,454 (GRCm39)	D282G	probably benign	Het
Ppp6r3	A	G	19: 3,576,901 (GRCm39)	S10P	possibly damaging	Het
Raph1	G	A	1: 60,529,315 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,268,325 (GRCm39)	V935A	possibly damaging	Het
Reg4	T	A	3: 98,140,344 (GRCm39)	D108E	possibly damaging	Het
Saraf	T	A	8: 34,632,604 (GRCm39)	Y228N	probably damaging	Het
Sctr	T	C	1: 119,984,137 (GRCm39)	S357P	probably damaging	Het
Sec22b	A	T	3: 97,821,884 (GRCm39)	N139Y	probably damaging	Het
Sgsm1	T	A	5: 113,398,823 (GRCm39)	I1037F	probably damaging	Het
Skint5	A	C	4: 113,620,700 (GRCm39)	S671R	unknown	Het
Slc38a3	C	A	9: 107,535,948 (GRCm39)	E62*	probably null	Het
Slfn14	C	T	11: 83,174,425 (GRCm39)	E189K	probably damaging	Het
Sox21	A	G	14: 118,472,656 (GRCm39)	L131P	probably damaging	Het
Stip1	A	G	19: 6,999,393 (GRCm39)		probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Susd1	T	C	4: 59,315,363 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,005,689 (GRCm39)	D498E	probably benign	Het
Tln2	C	T	9: 67,165,532 (GRCm39)	E1053K	probably damaging	Het
Trav6-4	A	G	14: 53,692,211 (GRCm39)	D103G	probably damaging	Het
Txndc15	A	G	13: 55,865,920 (GRCm39)	E128G	probably benign	Het
Vmn2r22	A	T	6: 123,614,673 (GRCm39)	W306R	probably damaging	Het
Yjefn3	A	T	8: 70,342,121 (GRCm39)	L33Q	probably damaging	Het
Zfp641	T	C	15: 98,186,891 (GRCm39)	D244G	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
R2093:Fdx2	UTSW	9	20,984,720 (GRCm39)	missense	probably benign	0.05
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
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'- TTGGTCCCAATTGCCGAAC -3'

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

Posted On

2016-12-15