Incidental Mutation 'IGL01903:Sfxn4'
ID 179582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfxn4
Ensembl Gene ENSMUSG00000063698
Gene Name sideroflexin 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01903
Quality Score
Status
Chromosome 19
Chromosomal Location 60825715-60849917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60847118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 55 (Y55C)
Ref Sequence ENSEMBL: ENSMUSP00000118708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080806] [ENSMUST00000124921] [ENSMUST00000135808]
AlphaFold Q925N1
Predicted Effect probably damaging
Transcript: ENSMUST00000080806
AA Change: Y55C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000124921
AA Change: Y55C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000135808
AA Change: Y55C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: Y55C

DomainStartEndE-ValueType
Pfam:Mtc 11 313 2.1e-67 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,949,050 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,231 (GRCm39) probably null Het
Asxl3 T A 18: 22,567,633 (GRCm39) D70E probably benign Het
Atat1 T A 17: 36,208,692 (GRCm39) I380L probably benign Het
Ccnj A G 19: 40,834,454 (GRCm39) E351G probably damaging Het
Clca4b A T 3: 144,634,020 (GRCm39) Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,964 (GRCm39) V16G probably damaging Het
Gcdh A T 8: 85,615,233 (GRCm39) L389Q probably damaging Het
Ggta1 A T 2: 35,292,569 (GRCm39) F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3696 T A 14: 18,434,983 (GRCm39) probably benign Het
Gramd2b A T 18: 56,607,101 (GRCm39) S72C probably damaging Het
Hal G A 10: 93,336,469 (GRCm39) probably benign Het
Haus4 A T 14: 54,779,886 (GRCm39) S288T possibly damaging Het
Herc1 A T 9: 66,294,154 (GRCm39) K499* probably null Het
Hyou1 C T 9: 44,292,438 (GRCm39) probably benign Het
Kng2 C T 16: 22,806,540 (GRCm39) R553Q possibly damaging Het
Leng9 G A 7: 4,151,746 (GRCm39) A310V probably damaging Het
Magi3 G T 3: 103,958,526 (GRCm39) Q520K possibly damaging Het
Mark1 A G 1: 184,661,577 (GRCm39) probably benign Het
Mybl1 T A 1: 9,741,801 (GRCm39) probably null Het
Ncapd2 A G 6: 125,154,423 (GRCm39) S598P probably benign Het
Or14j5 T C 17: 37,920,758 (GRCm39) I295V possibly damaging Het
Or4k47 T C 2: 111,452,003 (GRCm39) K139E probably benign Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or5aq1 A C 2: 86,965,723 (GRCm39) probably null Het
Otud6b C T 4: 14,818,458 (GRCm39) E148K probably benign Het
Pgghg A G 7: 140,526,741 (GRCm39) Q686R probably benign Het
Pkhd1 C A 1: 20,268,361 (GRCm39) C3339F probably damaging Het
Pla2g4a T C 1: 149,716,370 (GRCm39) D697G possibly damaging Het
Serping1 A T 2: 84,600,116 (GRCm39) probably null Het
Sh3bp5l A G 11: 58,236,864 (GRCm39) R274G probably damaging Het
Snx13 A G 12: 35,135,968 (GRCm39) T88A probably benign Het
Spz1 G T 13: 92,711,407 (GRCm39) N356K probably damaging Het
Taf2 A T 15: 54,923,412 (GRCm39) F288L probably benign Het
Tti1 T C 2: 157,842,542 (GRCm39) E829G probably benign Het
Ube2z T C 11: 95,955,826 (GRCm39) D92G possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Zfp397 T A 18: 24,093,086 (GRCm39) N190K probably benign Het
Other mutations in Sfxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Sfxn4 APN 19 60,839,452 (GRCm39) missense possibly damaging 0.91
IGL01567:Sfxn4 APN 19 60,842,336 (GRCm39) missense probably damaging 1.00
IGL01829:Sfxn4 APN 19 60,847,172 (GRCm39) missense probably damaging 1.00
IGL01965:Sfxn4 APN 19 60,847,182 (GRCm39) splice site probably benign
IGL03290:Sfxn4 APN 19 60,848,508 (GRCm39) missense probably damaging 1.00
R0346:Sfxn4 UTSW 19 60,847,111 (GRCm39) missense probably benign 0.01
R0550:Sfxn4 UTSW 19 60,839,383 (GRCm39) splice site probably benign
R2228:Sfxn4 UTSW 19 60,839,458 (GRCm39) missense probably damaging 1.00
R2229:Sfxn4 UTSW 19 60,839,458 (GRCm39) missense probably damaging 1.00
R3949:Sfxn4 UTSW 19 60,840,501 (GRCm39) missense probably damaging 1.00
R5074:Sfxn4 UTSW 19 60,839,450 (GRCm39) missense probably damaging 1.00
R6534:Sfxn4 UTSW 19 60,827,461 (GRCm39) missense probably damaging 1.00
R7120:Sfxn4 UTSW 19 60,840,477 (GRCm39) nonsense probably null
R7375:Sfxn4 UTSW 19 60,847,112 (GRCm39) missense probably benign 0.38
R7438:Sfxn4 UTSW 19 60,845,799 (GRCm39) missense probably damaging 0.99
R7440:Sfxn4 UTSW 19 60,830,642 (GRCm39) missense possibly damaging 0.92
R7479:Sfxn4 UTSW 19 60,847,112 (GRCm39) missense possibly damaging 0.74
R7577:Sfxn4 UTSW 19 60,842,324 (GRCm39) missense probably benign 0.21
R7883:Sfxn4 UTSW 19 60,847,187 (GRCm39) splice site probably null
R8058:Sfxn4 UTSW 19 60,832,690 (GRCm39) missense probably damaging 0.99
R9335:Sfxn4 UTSW 19 60,839,494 (GRCm39) missense probably damaging 1.00
R9523:Sfxn4 UTSW 19 60,845,807 (GRCm39) missense probably damaging 0.97
Posted On 2014-05-07