Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Foxred1'

311755

Institutional Source

Beutler Lab

Gene Symbol

Foxred1

Ensembl Gene

ENSMUSG00000039048

Gene Name

FAD-dependent oxidoreductase domain containing 1

Synonyms

TEG-23, Tex23

MMRRC Submission

040949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35115502-35122351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35117571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 254 (M254K)

Ref Sequence

ENSEMBL: ENSMUSP00000118037 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000043805
AA Change: M254K

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: M254K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127996
AA Change: M254K

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: M254K

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: ENSMUST00000142595
AA Change: N188K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: N188K

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

noncoding transcript
Transcript: ENSMUST00000140177

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: 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: ENSMUST00000216618

Meta Mutation Damage Score

0.1485

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	T	18: 80,174,036 (GRCm39)	F124L	probably benign	Het
Aicda	A	G	6: 122,536,449 (GRCm39)	K10E	probably benign	Het
Als2	A	G	1: 59,226,575 (GRCm39)	C910R	probably benign	Het
Ankrd11	T	A	8: 123,619,156 (GRCm39)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,308,909 (GRCm39)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,764,187 (GRCm39)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,694,629 (GRCm39)	D102G	probably damaging	Het
Babam2	T	C	5: 32,158,782 (GRCm39)	V244A	probably damaging	Het
Brd10	T	G	19: 29,720,990 (GRCm39)	K622N	probably damaging	Het
Cars1	G	A	7: 143,113,411 (GRCm39)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,100,129 (GRCm39)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,576,453 (GRCm39)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,826,359 (GRCm39)	R1119G	probably damaging	Het
Cebpz	A	T	17: 79,231,896 (GRCm39)	V810E	probably damaging	Het
Cep120	T	C	18: 53,871,654 (GRCm39)	T73A	probably damaging	Het
Chat	C	A	14: 32,145,269 (GRCm39)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,648,087 (GRCm39)	Q10R	probably benign	Het
Cripto	C	T	9: 110,769,781 (GRCm39)	M169I	probably benign	Het
Cst8	T	C	2: 148,646,622 (GRCm39)		probably benign	Het
Cts3	C	T	13: 61,715,868 (GRCm39)		probably null	Het
Cyp4a29	T	A	4: 115,105,707 (GRCm39)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,286,297 (GRCm39)		probably null	Het
Dsg4	T	A	18: 20,584,919 (GRCm39)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,008,656 (GRCm39)	V957I	probably damaging	Het
Eif4g2	A	T	7: 110,673,358 (GRCm39)	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,366,731 (GRCm39)		probably benign	Het
Epm2aip1	A	T	9: 111,101,458 (GRCm39)	I144F	probably benign	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam170a	C	T	18: 50,415,038 (GRCm39)	A228V	probably damaging	Het
Gm1527	T	A	3: 28,952,969 (GRCm39)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,533,947 (GRCm39)	T370A	probably benign	Het
Gtf2e2	A	G	8: 34,245,993 (GRCm39)		probably benign	Het
Hgsnat	A	T	8: 26,445,817 (GRCm39)	L359*	probably null	Het
Hhip	A	T	8: 80,719,223 (GRCm39)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,236,107 (GRCm39)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,513,675 (GRCm39)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,293,270 (GRCm39)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,275,930 (GRCm39)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,450,185 (GRCm39)	F615L	probably benign	Het
Kcna1	T	A	6: 126,619,873 (GRCm39)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,625,877 (GRCm39)		probably null	Het
Krtap4-1	G	T	11: 99,518,637 (GRCm39)	C124*	probably null	Het
Lama1	T	A	17: 68,119,368 (GRCm39)	L2615*	probably null	Het
Lcp2	A	T	11: 34,018,439 (GRCm39)	I72F	probably damaging	Het
Med1	T	A	11: 98,062,532 (GRCm39)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,566,654 (GRCm39)	R757C	probably damaging	Het
Mtr	T	A	13: 12,204,283 (GRCm39)	H1171L	probably damaging	Het
Mtr	G	C	13: 12,204,284 (GRCm39)	H1171D	probably damaging	Het
Naa12	A	G	18: 80,255,339 (GRCm39)	D211G	probably benign	Het
Nlrc5	A	G	8: 95,202,620 (GRCm39)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 115,908,259 (GRCm39)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 37,064,189 (GRCm39)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,896,414 (GRCm39)	S495R	probably benign	Het
Pramel1	T	A	4: 143,123,260 (GRCm39)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,673,390 (GRCm39)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,254,740 (GRCm39)	F1125L	probably benign	Het
Prkg2	T	C	5: 99,127,674 (GRCm39)	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,584 (GRCm39)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,528,955 (GRCm39)	L20R	probably damaging	Het
Qng1	T	A	13: 58,529,800 (GRCm39)	K271*	probably null	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,287,002 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
S100a6	A	G	3: 90,521,508 (GRCm39)	D50G	probably damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Sipa1l1	G	A	12: 82,388,556 (GRCm39)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 75,910,826 (GRCm39)	I337F	probably damaging	Het
Smarcc1	A	G	9: 109,961,273 (GRCm39)	Y30C	possibly damaging	Het
Swap70	A	G	7: 109,880,512 (GRCm39)	K576E	possibly damaging	Het
Syt6	A	G	3: 103,532,809 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,241,097 (GRCm39)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm39)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm39)	I214V	probably benign	Het
Tonsl	A	T	15: 76,521,244 (GRCm39)	I354N	probably damaging	Het
Trappc9	T	C	15: 72,903,472 (GRCm39)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,057,338 (GRCm39)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,756,590 (GRCm39)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,449,260 (GRCm39)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,097,883 (GRCm39)	E171G	possibly damaging	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
R0605:Foxred1	UTSW	9	35,116,178 (GRCm39)	missense	possibly damaging	0.68
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
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'- GCACACAATGGATCCTGACATG -3'
(R):5'- ACAGACACAGGGAGAGTCTC -3'

Sequencing Primer
(F):5'- AATGGATCCTGACATGTTTATTTCCC -3'
(R):5'- GAGGAAGTCCAGCTCACTCATAG -3'

Posted On

2015-04-29