Incidental Mutation 'IGL01567:Sfxn4'
ID 91004
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 # IGL01567
Quality Score
Status
Chromosome 19
Chromosomal Location 60825715-60849917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60842336 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q925N1
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: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Capns2 C A 8: 93,628,634 (GRCm39) H174Q probably benign Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Cox18 G A 5: 90,365,447 (GRCm39) Q251* probably null Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Grb7 A G 11: 98,345,776 (GRCm39) N518S probably damaging Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or2f1b T C 6: 42,739,661 (GRCm39) I225T probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Spmip7 A G 11: 11,465,015 (GRCm39) H122R possibly damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Sfxn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Sfxn4 APN 19 60,839,452 (GRCm39) missense possibly damaging 0.91
IGL01829:Sfxn4 APN 19 60,847,172 (GRCm39) missense probably damaging 1.00
IGL01903:Sfxn4 APN 19 60,847,118 (GRCm39) missense probably damaging 0.99
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 2013-12-09