Incidental Mutation 'IGL01567:Sfxn4'
ID91004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfxn4
Ensembl Gene ENSMUSG00000063698
Gene Namesideroflexin 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01567
Quality Score
Status
Chromosome19
Chromosomal Location60837277-60861479 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 60853898 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 122 (T122K)
Ref Sequence ENSEMBL: ENSMUSP00000118743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080806] [ENSMUST00000124921] [ENSMUST00000135808]
Predicted Effect probably benign
Transcript: ENSMUST00000080806
Predicted Effect unknown
Transcript: ENSMUST00000124921
AA Change: H113Q
Predicted Effect probably damaging
Transcript: ENSMUST00000135808
AA Change: T122K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: T122K

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Sfxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Sfxn4 APN 19 60851014 missense possibly damaging 0.91
IGL01829:Sfxn4 APN 19 60858734 missense probably damaging 1.00
IGL01903:Sfxn4 APN 19 60858680 missense probably damaging 0.99
IGL01965:Sfxn4 APN 19 60858744 splice site probably benign
IGL03290:Sfxn4 APN 19 60860070 missense probably damaging 1.00
R0346:Sfxn4 UTSW 19 60858673 missense probably benign 0.01
R0550:Sfxn4 UTSW 19 60850945 splice site probably benign
R2228:Sfxn4 UTSW 19 60851020 missense probably damaging 1.00
R2229:Sfxn4 UTSW 19 60851020 missense probably damaging 1.00
R3949:Sfxn4 UTSW 19 60852063 missense probably damaging 1.00
R5074:Sfxn4 UTSW 19 60851012 missense probably damaging 1.00
R6534:Sfxn4 UTSW 19 60839023 missense probably damaging 1.00
R7120:Sfxn4 UTSW 19 60852039 nonsense probably null
R7375:Sfxn4 UTSW 19 60858674 missense probably benign 0.38
R7438:Sfxn4 UTSW 19 60857361 missense probably damaging 0.99
R7440:Sfxn4 UTSW 19 60842204 missense possibly damaging 0.92
R7479:Sfxn4 UTSW 19 60858674 missense possibly damaging 0.74
Posted On2013-12-09