Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Foxred1'

351937

Institutional Source

Beutler Lab

Gene Symbol

Foxred1

Ensembl Gene

ENSMUSG00000039048

Gene Name

FAD-dependent oxidoreductase domain containing 1

Synonyms

Tex23, TEG-23

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35204206-35211055 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 35210855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149923 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000043805
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: G13S

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

Predicted Effect

unknown
Transcript: ENSMUST00000127996
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: G13S

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

unknown
Transcript: ENSMUST00000138692
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048
AA Change: G13S

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

Predicted Effect

unknown
Transcript: ENSMUST00000139703
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: G13S

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

unknown
Transcript: ENSMUST00000142595
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: G13S

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

Predicted Effect

unknown
Transcript: ENSMUST00000154691
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048
AA Change: G13S

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: ENSMUST00000151082

Predicted Effect

unknown
Transcript: ENSMUST00000151658
AA Change: G13S

SMART Domains

Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: G13S

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: ENSMUST00000143039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216618

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,902 (GRCm38)	S12L	probably benign	Het
4921507P07Rik	G	T	6: 50,595,828 (GRCm38)	T35K	possibly damaging	Het
4931406P16Rik	T	C	7: 34,284,773 (GRCm38)	M142V	probably damaging	Het
Abce1	A	G	8: 79,687,486 (GRCm38)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,492 (GRCm38)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,424,905 (GRCm38)	I138N	probably damaging	Het
Aox2	C	T	1: 58,304,597 (GRCm38)	Q480*	probably null	Het
Arhgef38	C	T	3: 133,140,772 (GRCm38)		probably null	Het
Atmin	A	G	8: 116,957,959 (GRCm38)	D786G	probably damaging	Het
Capn1	A	T	19: 6,011,015 (GRCm38)	N253K	probably benign	Het
Cdh8	T	C	8: 99,024,902 (GRCm38)	T728A	possibly damaging	Het
Celsr1	A	G	15: 86,030,494 (GRCm38)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,616,854 (GRCm38)	P560T	probably benign	Het
Chfr	C	T	5: 110,144,867 (GRCm38)	Q167*	probably null	Het
Chrna4	A	G	2: 181,037,493 (GRCm38)	S54P	probably damaging	Het
Cntln	A	G	4: 84,971,216 (GRCm38)	N312S	probably benign	Het
Cntn6	A	G	6: 104,728,284 (GRCm38)	E154G	probably benign	Het
Col6a6	T	A	9: 105,767,342 (GRCm38)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,983,207 (GRCm38)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933 (GRCm38)	E282K	probably benign	Het
Cryba2	C	T	1: 74,890,048 (GRCm38)	D179N	probably benign	Het
Daglb	A	T	5: 143,503,349 (GRCm38)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,570,860 (GRCm38)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,274,961 (GRCm38)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,828,472 (GRCm38)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,181,330 (GRCm38)	S238P	probably damaging	Het
Duox1	C	T	2: 122,319,475 (GRCm38)	P116S	probably benign	Het
Ebf1	A	G	11: 44,991,557 (GRCm38)	N447D	probably damaging	Het
Epg5	A	G	18: 78,012,864 (GRCm38)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,570,505 (GRCm38)	D75G	probably damaging	Het
Extl2	T	A	3: 116,024,207 (GRCm38)	I70N	probably damaging	Het
Fam129c	G	T	8: 71,603,825 (GRCm38)	E390*	probably null	Het
Fanca	T	C	8: 123,268,972 (GRCm38)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,894,910 (GRCm38)		probably null	Het
Foxa3	G	T	7: 19,014,372 (GRCm38)	C275*	probably null	Het
Galr2	A	G	11: 116,283,629 (GRCm38)	T362A	probably benign	Het
Garem2	C	A	5: 30,114,667 (GRCm38)	R376S	probably damaging	Het
Gatc	T	A	5: 115,335,547 (GRCm38)	N111I	probably benign	Het
Gjb4	C	A	4: 127,351,778 (GRCm38)	K123N	probably damaging	Het
Gm14025	T	C	2: 129,038,230 (GRCm38)	H592R	probably benign	Het
Gm9894	T	C	13: 67,765,094 (GRCm38)		noncoding transcript	Het
Gtdc1	T	C	2: 44,591,925 (GRCm38)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902 (GRCm38)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,421,205 (GRCm38)	I96V	probably benign	Het
Homer1	T	A	13: 93,402,159 (GRCm38)	I170N	probably damaging	Het
Homer3	G	A	8: 70,290,143 (GRCm38)		probably null	Het
Hoxb9	A	G	11: 96,274,831 (GRCm38)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,571,336 (GRCm38)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408 (GRCm38)		probably benign	Het
Lsm11	A	G	11: 45,933,813 (GRCm38)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,217,599 (GRCm38)	L265P	probably damaging	Het
Mcu	G	A	10: 59,456,699 (GRCm38)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 70,760,415 (GRCm38)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,801,730 (GRCm38)		probably null	Het
Nemf	T	C	12: 69,312,280 (GRCm38)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,531,405 (GRCm38)	S1395N	probably damaging	Het
Nlrp2	T	A	7: 5,319,189 (GRCm38)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,336,780 (GRCm38)	L686*	probably null	Het
Nudt12os	T	A	17: 59,024,551 (GRCm38)		noncoding transcript	Het
Olfr1122	T	A	2: 87,387,876 (GRCm38)	I57K	probably damaging	Het
Olfr16	G	A	1: 172,957,590 (GRCm38)	S265N	probably benign	Het
Olfr180	T	C	16: 58,916,584 (GRCm38)	D19G	probably benign	Het
Olfr205	A	G	16: 59,329,210 (GRCm38)	Y100H	possibly damaging	Het
Olfr93	A	T	17: 37,151,379 (GRCm38)	S44T	possibly damaging	Het
Olfr944	T	A	9: 39,217,846 (GRCm38)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,260,256 (GRCm38)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,438,750 (GRCm38)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,577,984 (GRCm38)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 70,768,859 (GRCm38)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,137,101 (GRCm38)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,668,164 (GRCm38)		probably benign	Het
Prune2	C	T	19: 17,120,188 (GRCm38)	R1019*	probably null	Het
Psap	A	G	10: 60,300,545 (GRCm38)	D486G	probably benign	Het
Purb	A	T	11: 6,475,615 (GRCm38)	V91E	probably damaging	Het
Recql	C	A	6: 142,376,841 (GRCm38)	V112F	probably damaging	Het
Rptor	A	T	11: 119,743,882 (GRCm38)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,295,246 (GRCm38)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,982,844 (GRCm38)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,655,613 (GRCm38)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,538,581 (GRCm38)	N22K	possibly damaging	Het
Sorl1	A	T	9: 42,004,051 (GRCm38)	M1294K	probably damaging	Het
Sp6	C	A	11: 97,021,875 (GRCm38)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm38)		probably benign	Het
Spon1	T	A	7: 114,028,969 (GRCm38)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,165,560 (GRCm38)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,504,013 (GRCm38)	I381F	possibly damaging	Het
Thsd7a	T	A	6: 12,337,314 (GRCm38)	T1235S	possibly damaging	Het
Tmc4	T	C	7: 3,671,271 (GRCm38)		probably null	Het
Tmprss11d	T	C	5: 86,309,401 (GRCm38)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,337,496 (GRCm38)	V65D	probably damaging	Het
Trpm1	G	T	7: 64,203,034 (GRCm38)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,114,207 (GRCm38)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,610,377 (GRCm38)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,574,868 (GRCm38)	S95T	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,893,503 (GRCm38)	W1222L	possibly damaging	Het
Vcan	C	A	13: 89,679,934 (GRCm38)	W2171L	probably damaging	Het
Vmn1r64	T	C	7: 5,884,358 (GRCm38)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 85,150,623 (GRCm38)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,544 (GRCm38)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,688,383 (GRCm38)	R216H	probably damaging	Het

Other mutations in Foxred1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02163:Foxred1	APN	9	35,205,896 (GRCm38)	missense	probably damaging	1.00
IGL02314:Foxred1	APN	9	35,205,968 (GRCm38)	missense	probably damaging	1.00
IGL02379:Foxred1	APN	9	35,209,986 (GRCm38)	missense	probably benign	0.44
IGL02558:Foxred1	APN	9	35,210,133 (GRCm38)	missense	probably damaging	1.00
PIT4494001:Foxred1	UTSW	9	35,209,059 (GRCm38)	missense	possibly damaging	0.95
R0220:Foxred1	UTSW	9	35,209,453 (GRCm38)	missense	probably damaging	1.00
R0605:Foxred1	UTSW	9	35,204,882 (GRCm38)	missense	possibly damaging	0.68
R0763:Foxred1	UTSW	9	35,207,473 (GRCm38)	splice site	probably null
R1136:Foxred1	UTSW	9	35,205,037 (GRCm38)	missense	probably benign	0.25
R1449:Foxred1	UTSW	9	35,209,442 (GRCm38)	missense	probably damaging	1.00
R1757:Foxred1	UTSW	9	35,210,834 (GRCm38)	missense	probably benign	0.16
R2157:Foxred1	UTSW	9	35,205,363 (GRCm38)	missense	probably damaging	1.00
R2434:Foxred1	UTSW	9	35,205,658 (GRCm38)	missense	probably damaging	0.99
R3713:Foxred1	UTSW	9	35,210,890 (GRCm38)	start codon destroyed	probably null
R4012:Foxred1	UTSW	9	35,206,275 (GRCm38)	missense	possibly damaging	0.48
R4934:Foxred1	UTSW	9	35,209,914 (GRCm38)	intron	probably benign
R5488:Foxred1	UTSW	9	35,209,970 (GRCm38)	missense	probably damaging	1.00
R5489:Foxred1	UTSW	9	35,209,970 (GRCm38)	missense	probably damaging	1.00
R5828:Foxred1	UTSW	9	35,210,196 (GRCm38)	intron	probably benign
R5840:Foxred1	UTSW	9	35,210,139 (GRCm38)	missense	probably damaging	0.99
R7037:Foxred1	UTSW	9	35,207,548 (GRCm38)	missense	probably benign	0.04
R7599:Foxred1	UTSW	9	35,205,636 (GRCm38)	missense	probably damaging	1.00
R9722:Foxred1	UTSW	9	35,206,004 (GRCm38)	missense	possibly damaging	0.95
R9795:Foxred1	UTSW	9	35,210,856 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGAGCCATACACTTGCC -3'
(R):5'- ATAGCTCCCCTATAGCGTGG -3'

Sequencing Primer
(F):5'- AGCCATACACTTGCCTCGGC -3'
(R):5'- CCCTATAGCGTGGAGGGGTG -3'

Posted On

2015-10-08