Incidental Mutation 'IGL02478:Slc25a37'
ID 295028
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 # IGL02478
Quality Score
Status
Chromosome 14
Chromosomal Location 69479297-69522561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69486883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 133 (N133K)
Ref Sequence ENSEMBL: ENSMUSP00000139104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037064] [ENSMUST00000184914]
AlphaFold Q920G8
Predicted Effect probably benign
Transcript: ENSMUST00000037064
AA Change: N133K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039990
Gene: ENSMUSG00000034248
AA Change: N133K

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
AA Change: N133K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139104
Gene: ENSMUSG00000034248
AA Change: N133K

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Skil T A 3: 31,151,968 (GRCm39) C163* probably null Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly damaging Het
Other mutations in Slc25a37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02560:Slc25a37 APN 14 69,482,741 (GRCm39) missense probably benign 0.00
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