Incidental Mutation 'R5489:Foxred1'
ID 431987
Institutional Source Beutler Lab
Gene Symbol Foxred1
Ensembl Gene ENSMUSG00000039048
Gene Name FAD-dependent oxidoreductase domain containing 1
Synonyms TEG-23, Tex23
MMRRC Submission 043050-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5489 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 35115502-35122351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35121266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 94 (V94E)
Ref Sequence ENSEMBL: ENSMUSP00000120284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000043805] [ENSMUST00000127996] [ENSMUST00000132799] [ENSMUST00000135054] [ENSMUST00000139703] [ENSMUST00000142595] [ENSMUST00000151658] [ENSMUST00000138287] [ENSMUST00000138692] [ENSMUST00000154691]
AlphaFold Q3TQB2
Predicted Effect probably benign
Transcript: ENSMUST00000034541
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000043805
AA Change: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
AA Change: V94E

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 462 2.8e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127996
AA Change: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
AA Change: V94E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:SRP54 3 132 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135054
SMART Domains Protein: ENSMUSP00000115301
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
Pfam:DAO 3 140 1.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139703
AA Change: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
AA Change: V94E

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 184 1.6e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142595
AA Change: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
AA Change: V94E

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 187 3.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143039
Predicted Effect probably damaging
Transcript: ENSMUST00000151658
AA Change: V94E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
AA Change: V94E

DomainStartEndE-ValueType
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: ENSMUST00000138287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154005
Predicted Effect probably benign
Transcript: ENSMUST00000138692
SMART Domains Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 29 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154691
SMART Domains Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 29 43 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216618
Meta Mutation Damage Score 0.9507 question?
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.6%
Validation Efficiency 95% (57/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,268,778 (GRCm39) M1K probably null Het
Abca14 T A 7: 119,851,473 (GRCm39) V817D probably damaging Het
Aqr T C 2: 113,963,554 (GRCm39) N632S probably damaging Het
Bms1 T C 6: 118,390,706 (GRCm39) T208A possibly damaging Het
Brd8 A T 18: 34,741,698 (GRCm39) probably null Het
Caln1 G T 5: 130,443,673 (GRCm39) R2L possibly damaging Het
Cdk17 A G 10: 93,068,274 (GRCm39) T344A probably damaging Het
Chd8 A T 14: 52,450,505 (GRCm39) probably benign Het
Clec14a A G 12: 58,315,035 (GRCm39) F196L probably damaging Het
Clec2f T C 6: 128,997,449 (GRCm39) noncoding transcript Het
Col4a1 A T 8: 11,362,550 (GRCm39) probably benign Het
Col9a3 G A 2: 180,258,318 (GRCm39) R579H probably damaging Het
Cyb561 A G 11: 105,826,349 (GRCm39) V202A probably benign Het
Cyp2c69 T G 19: 39,839,603 (GRCm39) Q340P probably null Het
D630003M21Rik T A 2: 158,058,941 (GRCm39) T320S probably benign Het
D630045J12Rik A T 6: 38,173,782 (GRCm39) S129T possibly damaging Het
Ddx54 A G 5: 120,762,786 (GRCm39) T636A probably benign Het
Dnah8 T G 17: 31,009,930 (GRCm39) F3774V probably damaging Het
Ern1 A G 11: 106,298,355 (GRCm39) S674P probably damaging Het
Fam13a A T 6: 59,001,303 (GRCm39) L8Q probably null Het
Fam83b T C 9: 76,452,881 (GRCm39) N62S probably benign Het
Frmd8 T A 19: 5,902,680 (GRCm39) Q457L probably damaging Het
Gvin3 T A 7: 106,200,797 (GRCm39) noncoding transcript Het
Heatr6 A G 11: 83,665,258 (GRCm39) E741G probably damaging Het
Hnrnpab A G 11: 51,495,640 (GRCm39) L133S probably damaging Het
Itga2 A T 13: 114,979,971 (GRCm39) W1077R probably damaging Het
Kat6b A G 14: 21,719,332 (GRCm39) D1228G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2a A T 9: 44,752,335 (GRCm39) probably benign Het
Leap2 T G 11: 53,313,240 (GRCm39) *77C probably null Het
Mmp20 A G 9: 7,643,958 (GRCm39) probably null Het
Mrps9 T G 1: 42,937,593 (GRCm39) probably benign Het
Muc2 T C 7: 141,305,169 (GRCm39) S158P probably benign Het
Mus81 T C 19: 5,537,917 (GRCm39) probably benign Het
Nrip3 T C 7: 109,361,045 (GRCm39) T210A probably damaging Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Padi2 T C 4: 140,671,799 (GRCm39) F509S probably damaging Het
Pcdha12 A G 18: 37,155,260 (GRCm39) T660A probably benign Het
Pdzd2 G A 15: 12,382,762 (GRCm39) P1197L probably benign Het
Rec8 A T 14: 55,860,283 (GRCm39) Q291L probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sart3 A G 5: 113,909,441 (GRCm39) W86R probably damaging Het
Slc17a4 A G 13: 24,082,825 (GRCm39) probably null Het
Tdpoz1 T A 3: 93,577,974 (GRCm39) Y270F possibly damaging Het
Thap3 T A 4: 152,070,109 (GRCm39) probably benign Het
Tmem45a T A 16: 56,646,074 (GRCm39) probably null Het
Trim43a A T 9: 88,464,229 (GRCm39) I47F probably damaging Het
Vps13b A T 15: 35,770,688 (GRCm39) I2044L probably benign Het
Zfp735 G A 11: 73,601,419 (GRCm39) W121* probably null Het
Zmym2 A G 14: 57,193,712 (GRCm39) K1176E possibly damaging Het
Other mutations in Foxred1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAGTAGCAAAGTCTCTTCCCC -3'
(R):5'- GACTGGGATGCAAAGGTGTC -3'

Sequencing Primer
(F):5'- TTCCCCAACAAAACAATGTTATTGC -3'
(R):5'- GATGCAAAGGTGTCTGACTTTAAG -3'
Posted On 2016-10-05