Incidental Mutation 'IGL02560:Slc25a37'
ID 298206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a37
Ensembl Gene ENSMUSG00000034248
Gene Name solute carrier family 25, member 37
Synonyms 4930526G11Rik, C330015G08Rik, Frascati, Mscp, Mfrn1, 1700020E22Rik, 4930513O14Rik, mitoferrin, Mfrn
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02560
Quality Score
Status
Chromosome 14
Chromosomal Location 69479297-69522561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69482741 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q920G8
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
Ano4 C T 10: 88,814,603 (GRCm39) W660* probably null Het
Atp9b T C 18: 80,805,413 (GRCm39) D715G probably benign Het
Catsper1 T C 19: 5,386,216 (GRCm39) S150P possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn19 G A 4: 119,112,921 (GRCm39) W51* probably null Het
Ddx31 T C 2: 28,765,838 (GRCm39) I512T probably damaging Het
Dsc2 G T 18: 20,178,596 (GRCm39) D269E probably damaging Het
Dsg1b T C 18: 20,542,235 (GRCm39) V914A possibly damaging Het
Etl4 A G 2: 20,748,529 (GRCm39) E420G probably damaging Het
Foxa2 A G 2: 147,885,951 (GRCm39) L113P probably benign Het
Gm6034 T G 17: 36,367,356 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,724,279 (GRCm39) Y343* probably null Het
Hhip A T 8: 80,713,638 (GRCm39) Y563N probably damaging Het
Ighg2c A T 12: 113,251,504 (GRCm39) C208S unknown Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Myb A T 10: 21,028,347 (GRCm39) L172Q probably damaging Het
Nipal3 A T 4: 135,207,015 (GRCm39) Y60N probably damaging Het
Npas2 A T 1: 39,373,042 (GRCm39) probably benign Het
Or5h26 G T 16: 58,987,891 (GRCm39) S205* probably null Het
Or8k16 T A 2: 85,519,863 (GRCm39) V30D possibly damaging Het
Or8k39 A T 2: 86,563,578 (GRCm39) I126N probably damaging Het
Pdxdc1 T C 16: 13,657,596 (GRCm39) D532G probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Senp5 A G 16: 31,808,210 (GRCm39) V348A probably benign Het
Svil A G 18: 5,049,379 (GRCm39) I219V probably benign Het
Tcf4 A G 18: 69,776,093 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,779 (GRCm39) V2442A probably benign Het
Tomm70a T C 16: 56,970,212 (GRCm39) L530S probably benign Het
Ulbp3 A G 10: 3,075,866 (GRCm39) noncoding transcript Het
Wscd2 A T 5: 113,699,045 (GRCm39) D200V probably benign Het
Zfp952 C T 17: 33,221,793 (GRCm39) Q53* probably null Het
Other mutations in Slc25a37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Slc25a37 APN 14 69,486,883 (GRCm39) missense probably benign
R5405:Slc25a37 UTSW 14 69,482,344 (GRCm39) missense possibly damaging 0.89
R6218:Slc25a37 UTSW 14 69,486,953 (GRCm39) missense possibly damaging 0.48
R7665:Slc25a37 UTSW 14 69,487,028 (GRCm39) missense probably benign 0.01
R9586:Slc25a37 UTSW 14 69,482,421 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16