Mutagenetix > Incidental Mutations

Incidental Mutation 'R1581:Foxred2'

171434

Institutional Source

Beutler Lab

Gene Symbol

Foxred2

Ensembl Gene

ENSMUSG00000016552

Gene Name

FAD-dependent oxidoreductase domain containing 2

Synonyms

D15Bwg0759e, A430097D04Rik, LOC239554

MMRRC Submission

039618-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77940522-77956722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77955761 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 110 (F110L)

Ref Sequence

ENSEMBL: ENSMUSP00000113403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016696] [ENSMUST00000100484] [ENSMUST00000117725]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016696
AA Change: F110L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552
AA Change: F110L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pyr_redox_2	22	243	2.9e-11	PFAM
Pfam:Pyr_redox_3	25	240	9.3e-35	PFAM
Pfam:NAD_binding_8	26	84	3.3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100484

SMART Domains

Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554

Domain	Start	End	E-Value	Type
Pfam:eIF-3_zeta	4	521	6.3e-220	PFAM
low complexity region	530	547	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117725
AA Change: F110L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552
AA Change: F110L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pyr_redox_2	23	478	3.4e-9	PFAM
Pfam:Pyr_redox_3	25	240	6.2e-37	PFAM
Pfam:NAD_binding_8	26	90	4.8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229824

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,179,144	E447G	probably benign	Het
Actn4	T	C	7: 28,898,646	T510A	probably benign	Het
Adgrb3	A	G	1: 25,094,072	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bicdl1	G	T	5: 115,651,267		probably benign	Het
Bmyc	T	C	2: 25,707,334	S137P	probably damaging	Het
Camsap3	C	T	8: 3,604,708	R782C	probably damaging	Het
Casc3	C	T	11: 98,822,818	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cnnm2	A	G	19: 46,763,123	T451A	probably damaging	Het
Eed	T	C	7: 89,980,468	K20E	possibly damaging	Het
Eps15	T	A	4: 109,363,186	M180K	probably benign	Het
Esr1	T	C	10: 4,997,905	I486T	probably damaging	Het
Etnppl	A	G	3: 130,628,744	I207V	possibly damaging	Het
Fam92a	T	A	4: 12,155,745		probably null	Het
Fancg	G	A	4: 43,007,039	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,385,723	C249Y	possibly damaging	Het
Fsip2	A	T	2: 82,986,282	N4120Y	probably damaging	Het
Gm156	T	C	6: 129,775,833	D3G	probably benign	Het
Gm4884	C	T	7: 41,043,831	S408L	probably benign	Het
Gm9476	T	C	10: 100,306,612		noncoding transcript	Het
Gria1	T	C	11: 57,237,010		probably null	Het
H6pd	T	A	4: 149,982,514	I472F	possibly damaging	Het
Hydin	A	T	8: 110,410,460	M632L	probably benign	Het
Hyou1	C	T	9: 44,388,870	P819S	probably damaging	Het
Il6st	A	G	13: 112,481,541	E163G	probably damaging	Het
Kcnk1	T	C	8: 125,995,539	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,522,913		probably null	Het
Klk1b22	A	G	7: 44,115,975	N117S	possibly damaging	Het
Lpp	C	A	16: 24,681,841	C134*	probably null	Het
Lrrc37a	G	A	11: 103,457,017	R2951*	probably null	Het
Luzp2	T	A	7: 55,249,490	D285E	possibly damaging	Het
Ly75	C	T	2: 60,327,893	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,812,541	S282T	possibly damaging	Het
Nav3	T	C	10: 109,823,428	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,567,968	T253A	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr398	A	T	11: 73,984,521	L29H	probably damaging	Het
Padi6	T	C	4: 140,735,836	Y146C	probably damaging	Het
Pank4	C	T	4: 154,974,651	R414W	probably damaging	Het
Pclo	T	G	5: 14,521,282	I227S	probably benign	Het
Plppr4	A	G	3: 117,328,266	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,448,586	R25C	probably damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,471,196	T192A	probably benign	Het
Rtbdn	A	G	8: 84,955,066	E131G	probably benign	Het
Ryr2	A	G	13: 11,794,563	V792A	probably benign	Het
Sacs	G	T	14: 61,213,679	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,298,099	S123G	probably benign	Het
Sept9	A	G	11: 117,290,595	R74G	probably damaging	Het
Sipa1l2	T	A	8: 125,491,617	Q327L	probably damaging	Het
Skor1	T	C	9: 63,146,223	T127A	probably damaging	Het
Sphk2	A	G	7: 45,713,496	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,244	D101E	probably damaging	Het
Tmem43	T	A	6: 91,478,735	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814	S839I	probably damaging	Het
Trpv5	T	C	6: 41,653,140	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,216,484	S191R	probably benign	Het
Ttll1	C	T	15: 83,496,277	V296M	probably damaging	Het
Upp2	A	C	2: 58,774,165	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,491,219	C780R	probably damaging	Het
Wars	C	A	12: 108,875,709	E171*	probably null	Het
Zeb2	A	T	2: 44,997,000	S637T	probably damaging	Het
Zfp27	T	A	7: 29,896,124	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,812,120	L442Q	probably benign	Het

Other mutations in Foxred2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Foxred2	APN	15	77955620	missense	probably benign	0.30
IGL01479:Foxred2	APN	15	77952289	splice site	probably null
IGL01748:Foxred2	APN	15	77952346	missense	probably damaging	1.00
IGL02160:Foxred2	APN	15	77955650	missense	probably benign	0.03
IGL02328:Foxred2	APN	15	77955832	missense	probably damaging	1.00
IGL02630:Foxred2	APN	15	77947162	missense	probably benign	0.05
IGL02672:Foxred2	APN	15	77945577	critical splice donor site	probably null
soma	UTSW	15	77953358	missense	possibly damaging	0.78
R0271:Foxred2	UTSW	15	77943390	missense	possibly damaging	0.68
R1386:Foxred2	UTSW	15	77948521	critical splice acceptor site	probably null
R4399:Foxred2	UTSW	15	77953358	missense	possibly damaging	0.78
R4399:Foxred2	UTSW	15	77955680	missense	probably benign	0.06
R4528:Foxred2	UTSW	15	77943249	missense	probably benign	0.01
R4937:Foxred2	UTSW	15	77955835	missense	probably damaging	1.00
R5165:Foxred2	UTSW	15	77956012	missense	probably damaging	1.00
R5318:Foxred2	UTSW	15	77952398	missense	probably benign	0.00
R5893:Foxred2	UTSW	15	77947144	missense	probably damaging	1.00
R6336:Foxred2	UTSW	15	77955764	missense	probably damaging	0.99
R6370:Foxred2	UTSW	15	77943306	missense	probably benign	0.01
R6426:Foxred2	UTSW	15	77953308	missense	probably damaging	1.00
R6826:Foxred2	UTSW	15	77947085	missense	probably benign	0.01
R6891:Foxred2	UTSW	15	77955709	missense	probably damaging	1.00
R6934:Foxred2	UTSW	15	77952330	nonsense	probably null
R7193:Foxred2	UTSW	15	77952030	missense	probably damaging	1.00
Z1088:Foxred2	UTSW	15	77952003	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAACCCCATTGGGAGCAAGAAG -3'
(R):5'- CTACGAGGTATTCGAACGCGAGTC -3'

Sequencing Primer
(F):5'- GCAAGAAGTAGCCCCTTTCTC -3'
(R):5'- GAGTCCGCACCTGGCAG -3'

Posted On

2014-04-13