Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Foxred1'

55653

Institutional Source

Beutler Lab

Gene Symbol

Foxred1

Ensembl Gene

ENSMUSG00000039048

Gene Name

FAD-dependent oxidoreductase domain containing 1

Synonyms

TEG-23, Tex23

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0605 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

35115502-35122351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35116178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 490 (Y490C)

Ref Sequence

ENSEMBL: ENSMUSP00000038924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043805] [ENSMUST00000127996] [ENSMUST00000135054] [ENSMUST00000138287] [ENSMUST00000138692] [ENSMUST00000139703] [ENSMUST00000151658] [ENSMUST00000154691] [ENSMUST00000142595] [ENSMUST00000175765] [ENSMUST00000176021] [ENSMUST00000176685] [ENSMUST00000177129] [ENSMUST00000176531]

AlphaFold

Q3TQB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043805
AA Change: Y490C

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: Y490C

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: Y484C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: Y484C

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: 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

SMART Domains

Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048

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: ENSMUST00000151082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143039

Predicted Effect

probably benign
Transcript: ENSMUST00000151658

SMART Domains

Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048

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

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

probably benign
Transcript: ENSMUST00000142595

SMART Domains

Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175765

SMART Domains

Protein: ENSMUSP00000135435
Gene: ENSMUSG00000032041

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	65	107	N/A	INTRINSIC
Pfam:TIR	113	206	2.4e-8	PFAM
Pfam:TIR_2	116	226	1.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216618

Predicted Effect

probably benign
Transcript: ENSMUST00000176021

SMART Domains

Protein: ENSMUSP00000135738
Gene: ENSMUSG00000032041

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	65	107	N/A	INTRINSIC
Pfam:TIR	116	215	3.1e-10	PFAM
Pfam:TIR_2	116	219	6.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176685

SMART Domains

Protein: ENSMUSP00000135876
Gene: ENSMUSG00000032041

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	65	107	N/A	INTRINSIC
Pfam:TIR	116	225	2.6e-10	PFAM
Pfam:TIR_2	116	226	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177129

SMART Domains

Protein: ENSMUSP00000135462
Gene: ENSMUSG00000032041

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	65	107	N/A	INTRINSIC
Pfam:TIR	116	225	2.6e-10	PFAM
Pfam:TIR_2	116	226	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176531

SMART Domains

Protein: ENSMUSP00000135224
Gene: ENSMUSG00000032041

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	65	107	N/A	INTRINSIC
Pfam:TIR	116	225	2.6e-10	PFAM
Pfam:TIR_2	116	226	1.4e-14	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Icam5	T	C	9: 20,943,493 (GRCm39)	I23T	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or5ae2	T	C	7: 84,506,345 (GRCm39)	I256T	probably damaging	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Osbpl1a	T	A	18: 13,015,336 (GRCm39)		probably null	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	Het

Other mutations in Foxred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02163:Foxred1	APN	9	35,117,192 (GRCm39)	missense	probably damaging	1.00
IGL02314:Foxred1	APN	9	35,117,264 (GRCm39)	missense	probably damaging	1.00
IGL02379:Foxred1	APN	9	35,121,282 (GRCm39)	missense	probably benign	0.44
IGL02558:Foxred1	APN	9	35,121,429 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Foxred1	UTSW	9	35,120,355 (GRCm39)	missense	possibly damaging	0.95
R0220:Foxred1	UTSW	9	35,120,749 (GRCm39)	missense	probably damaging	1.00
R0763:Foxred1	UTSW	9	35,118,769 (GRCm39)	splice site	probably null
R1136:Foxred1	UTSW	9	35,116,333 (GRCm39)	missense	probably benign	0.25
R1449:Foxred1	UTSW	9	35,120,738 (GRCm39)	missense	probably damaging	1.00
R1757:Foxred1	UTSW	9	35,122,130 (GRCm39)	missense	probably benign	0.16
R2157:Foxred1	UTSW	9	35,116,659 (GRCm39)	missense	probably damaging	1.00
R2434:Foxred1	UTSW	9	35,116,954 (GRCm39)	missense	probably damaging	0.99
R3713:Foxred1	UTSW	9	35,122,186 (GRCm39)	start codon destroyed	probably null
R4012:Foxred1	UTSW	9	35,117,571 (GRCm39)	missense	possibly damaging	0.48
R4666:Foxred1	UTSW	9	35,122,151 (GRCm39)	intron	probably benign
R4934:Foxred1	UTSW	9	35,121,210 (GRCm39)	intron	probably benign
R5488:Foxred1	UTSW	9	35,121,266 (GRCm39)	missense	probably damaging	1.00
R5489:Foxred1	UTSW	9	35,121,266 (GRCm39)	missense	probably damaging	1.00
R5828:Foxred1	UTSW	9	35,121,492 (GRCm39)	intron	probably benign
R5840:Foxred1	UTSW	9	35,121,435 (GRCm39)	missense	probably damaging	0.99
R7037:Foxred1	UTSW	9	35,118,844 (GRCm39)	missense	probably benign	0.04
R7599:Foxred1	UTSW	9	35,116,932 (GRCm39)	missense	probably damaging	1.00
R9722:Foxred1	UTSW	9	35,117,300 (GRCm39)	missense	possibly damaging	0.95
R9795:Foxred1	UTSW	9	35,122,152 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCATTCCATGTCCAGAGACACC -3'
(R):5'- CAAGAACCTCAGCATCTTTTGCACC -3'

Sequencing Primer
(F):5'- TCCAGAGACACCGGGGAAG -3'
(R):5'- CAATACTTTTGACCAGAATGGCG -3'

Posted On

2013-07-11