Incidental Mutation 'IGL02560:Slc25a37'
ID298206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a37
Ensembl Gene ENSMUSG00000034248
Gene Namesolute carrier family 25, member 37
SynonymsMfrn1, Mfrn, Frascati, 1700020E22Rik, mitoferrin, C330015G08Rik, 4930513O14Rik, Mscp, 4930526G11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02560
Quality Score
Status
Chromosome14
Chromosomal Location69241848-69285112 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69245292 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000039990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037064] [ENSMUST00000184914]
Predicted Effect probably benign
Transcript: ENSMUST00000037064
AA Change: T187A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039990
Gene: ENSMUSG00000034248
AA Change: T187A

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Pfam:Mito_carr 41 136 1.7e-25 PFAM
Pfam:Mito_carr 139 230 3.8e-22 PFAM
Pfam:Mito_carr 230 331 8.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184497
Predicted Effect probably benign
Transcript: ENSMUST00000184914
SMART Domains Protein: ENSMUSP00000139104
Gene: ENSMUSG00000034248

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Pfam:Mito_carr 41 136 4.4e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Embryos homozygous for a knock-out allele are pale, exhibit no hemoglobinization in the yolk sac and heart, and die during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Atp9b T C 18: 80,762,198 D715G probably benign Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn19 G A 4: 119,255,724 W51* probably null Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Gtf3c4 A T 2: 28,834,267 Y343* probably null Het
Hhip A T 8: 79,987,009 Y563N probably damaging Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Senp5 A G 16: 31,989,392 V348A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null Het
Other mutations in Slc25a37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Slc25a37 APN 14 69249434 missense probably benign
R5405:Slc25a37 UTSW 14 69244895 missense possibly damaging 0.89
R6218:Slc25a37 UTSW 14 69249504 missense possibly damaging 0.48
R7665:Slc25a37 UTSW 14 69249579 missense probably benign 0.01
Posted On2015-04-16