Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Foxred1'

291263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxred1

Ensembl Gene

ENSMUSG00000039048

Gene Name

FAD-dependent oxidoreductase domain containing 1

Synonyms

Tex23, TEG-23

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

35204206-35211055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35209986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 89 (R89G)

Ref Sequence

ENSEMBL: ENSMUSP00000117147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000043805] [ENSMUST00000127996] [ENSMUST00000132799] [ENSMUST00000135054] [ENSMUST00000138287] [ENSMUST00000138692] [ENSMUST00000139703] [ENSMUST00000142595] [ENSMUST00000151658] [ENSMUST00000154691]

AlphaFold

Q3TQB2

Predicted Effect

probably benign
Transcript: ENSMUST00000034541

SMART Domains

Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

Domain	Start	End	E-Value	Type
Pfam:SRP-alpha_N	27	301	4.4e-69	PFAM
SRP54_N	318	395	4.04e-6	SMART
AAA	415	568	9.65e-10	SMART
SRP54	416	635	3.47e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043805
AA Change: R89G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: R89G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	462	2.8e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127996
AA Change: R89G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: R89G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	456	1.8e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130072

Predicted Effect

probably benign
Transcript: ENSMUST00000132799

SMART Domains

Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042

Domain	Start	End	E-Value	Type
Pfam:SRP54	3	132	8.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135054

SMART Domains

Protein: ENSMUSP00000115301
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
Pfam:DAO	3	140	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138287

Predicted Effect

probably benign
Transcript: ENSMUST00000138692

SMART Domains

Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	29	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139703
AA Change: R89G

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: R89G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	184	1.6e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140177

Predicted Effect

probably benign
Transcript: ENSMUST00000142595
AA Change: R89G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: R89G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	187	3.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151082

Predicted Effect

probably benign
Transcript: ENSMUST00000151658
AA Change: R89G

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: R89G

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	121	5.8e-9	PFAM
low complexity region	128	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154005

Predicted Effect

probably benign
Transcript: ENSMUST00000154691

SMART Domains

Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	29	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216618

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 protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,622,043	I996F	probably damaging	Het
Adamts9	T	A	6: 92,797,033	D1133V	probably damaging	Het
Adi1	T	A	12: 28,679,467	D106E	probably damaging	Het
Agl	A	G	3: 116,779,091	F837S	probably damaging	Het
Alb	T	A	5: 90,465,879	D207E	probably benign	Het
Alms1	T	G	6: 85,629,633	V2286G	probably damaging	Het
Alpl	G	A	4: 137,742,558	A485V	probably damaging	Het
Antxrl	C	A	14: 34,056,535		probably null	Het
Apc	C	T	18: 34,298,745	T417I	probably benign	Het
Ash2l	T	C	8: 25,822,771	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980	P582S	probably damaging	Het
Bcr	T	A	10: 75,157,148	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,191,341	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,645,553	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,723,946	D47G	probably benign	Het
Clca4b	T	A	3: 144,921,858	M451L	probably benign	Het
Csnk1g3	T	C	18: 53,933,492	S346P	probably benign	Het
Cspg4	G	T	9: 56,892,609		probably benign	Het
Ctr9	A	G	7: 111,051,519	K884E	probably damaging	Het
Cyld	T	A	8: 88,744,928	C813*	probably null	Het
Fn3k	A	T	11: 121,435,124	T46S	probably benign	Het
Gpr174	T	C	X: 107,293,478	F299L	probably damaging	Het
Hdac7	T	C	15: 97,808,385	D312G	probably damaging	Het
Il1f8	A	G	2: 24,154,638	S17G	probably benign	Het
Kcna5	G	T	6: 126,534,509	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,326,638	V425G	probably damaging	Het
Klk5	A	G	7: 43,850,822	N278S	probably damaging	Het
Mars2	T	A	1: 55,238,053	W272R	probably damaging	Het
Msl3l2	C	A	10: 56,115,921	S247R	possibly damaging	Het
Myh7	T	C	14: 54,979,468	E1144G	probably damaging	Het
Nefm	T	C	14: 68,120,239		probably benign	Het
Nwd2	A	G	5: 63,805,301	K743E	probably damaging	Het
Nyap2	C	T	1: 81,087,430	T53I	probably damaging	Het
Olfr1124	T	C	2: 87,435,324	V279A	probably benign	Het
Olfr617	T	C	7: 103,584,892	V290A	possibly damaging	Het
Peli2	A	G	14: 48,168,298	H60R	probably damaging	Het
Pias2	T	A	18: 77,145,148		probably benign	Het
Pik3c2b	A	G	1: 133,094,791	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,866,111		probably null	Het
Raf1	A	T	6: 115,644,548	D23E	probably benign	Het
Rhox10	G	A	X: 38,066,856	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,138,888	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,118,660	S105T	probably benign	Het
Slc12a9	T	G	5: 137,321,429	Q608P	probably damaging	Het
Smg6	C	A	11: 75,053,925	P167T	probably damaging	Het
Spata7	C	T	12: 98,634,260	T44I	probably damaging	Het
Spink12	C	T	18: 44,106,508		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stag2	C	T	X: 42,250,597	T754I	probably benign	Het
Supt6	C	T	11: 78,225,369	V723M	possibly damaging	Het
Ttc25	A	T	11: 100,566,983	N471Y	possibly damaging	Het
Ubr3	A	G	2: 69,948,488	D614G	possibly damaging	Het
Vps39	T	A	2: 120,323,608	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,612,859	L29Q	probably damaging	Het
Wtap	G	A	17: 12,969,449	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,975	F5L	probably benign	Het
Zfp655	C	T	5: 145,243,955	P208S	probably benign	Het
Zswim3	A	T	2: 164,820,682		probably null	Het

Other mutations in Foxred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02163:Foxred1	APN	9	35205896	missense	probably damaging	1.00
IGL02314:Foxred1	APN	9	35205968	missense	probably damaging	1.00
IGL02558:Foxred1	APN	9	35210133	missense	probably damaging	1.00
PIT4494001:Foxred1	UTSW	9	35209059	missense	possibly damaging	0.95
R0220:Foxred1	UTSW	9	35209453	missense	probably damaging	1.00
R0605:Foxred1	UTSW	9	35204882	missense	possibly damaging	0.68
R0763:Foxred1	UTSW	9	35207473	splice site	probably null
R1136:Foxred1	UTSW	9	35205037	missense	probably benign	0.25
R1449:Foxred1	UTSW	9	35209442	missense	probably damaging	1.00
R1757:Foxred1	UTSW	9	35210834	missense	probably benign	0.16
R2157:Foxred1	UTSW	9	35205363	missense	probably damaging	1.00
R2434:Foxred1	UTSW	9	35205658	missense	probably damaging	0.99
R3713:Foxred1	UTSW	9	35210890	start codon destroyed	probably null
R4012:Foxred1	UTSW	9	35206275	missense	possibly damaging	0.48
R4666:Foxred1	UTSW	9	35210855	intron	probably benign
R4934:Foxred1	UTSW	9	35209914	intron	probably benign
R5488:Foxred1	UTSW	9	35209970	missense	probably damaging	1.00
R5489:Foxred1	UTSW	9	35209970	missense	probably damaging	1.00
R5828:Foxred1	UTSW	9	35210196	intron	probably benign
R5840:Foxred1	UTSW	9	35210139	missense	probably damaging	0.99
R7037:Foxred1	UTSW	9	35207548	missense	probably benign	0.04
R7599:Foxred1	UTSW	9	35205636	missense	probably damaging	1.00
R9722:Foxred1	UTSW	9	35206004	missense	possibly damaging	0.95
R9795:Foxred1	UTSW	9	35210856	frame shift	probably null

Posted On

2015-04-16