Incidental Mutation 'IGL02478:Slc25a37'
ID295028
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 #IGL02478
Quality Score
Status
Chromosome14
Chromosomal Location69241848-69285112 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69249434 bp
ZygosityHeterozygous
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]
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: 8,806,018 A42E probably damaging Het
Agmo T A 12: 37,401,986 F247L probably damaging Het
Arap1 C A 7: 101,400,125 probably null Het
Arid1a T C 4: 133,681,274 D1974G unknown Het
Asxl3 C T 18: 22,523,013 A1360V possibly damaging Het
Celsr1 T A 15: 85,941,136 T1599S possibly damaging Het
Chrdl2 T C 7: 100,020,983 probably null Het
Csmd3 T C 15: 47,838,398 probably benign Het
Dis3l C T 9: 64,314,773 E452K probably benign Het
Dnajc2 A T 5: 21,776,790 H45Q probably damaging Het
Eps8 G A 6: 137,522,842 P213L probably benign Het
Erbb3 T A 10: 128,571,358 R978* probably null Het
Exoc2 A T 13: 30,927,420 C142S probably benign Het
Fam184b T C 5: 45,537,697 E735G probably damaging Het
Fam208b T C 13: 3,574,661 E1763G probably benign Het
Fancm T C 12: 65,077,090 V174A probably damaging Het
Fat4 T C 3: 38,888,215 L419P probably damaging Het
Fsip2 G T 2: 82,984,392 V3490L probably benign Het
Ftcd A T 10: 76,581,421 R255* probably null Het
Galc T C 12: 98,213,132 N506S possibly damaging Het
Gm20441 G T 10: 75,772,810 A26E probably damaging Het
Gm21969 T G 4: 139,640,688 probably null Het
Hspb11 T A 4: 107,275,252 S79T probably benign Het
Ifitm3 T A 7: 141,009,874 M89L possibly damaging Het
Inmt T C 6: 55,173,370 E94G probably damaging Het
Insrr G A 3: 87,809,412 G649D probably benign Het
Ivd T C 2: 118,862,091 L24P probably benign Het
Kcnc1 A G 7: 46,435,169 N506D probably benign Het
Krt39 T A 11: 99,520,897 D121V probably benign Het
Lcp1 A G 14: 75,224,096 I510V probably benign Het
Mkx C T 18: 7,002,418 V43M probably damaging Het
Mmp2 A G 8: 92,852,607 N108S possibly damaging Het
Mob1b T C 5: 88,756,088 probably benign Het
Morc3 A G 16: 93,864,956 probably benign Het
Myh13 T G 11: 67,369,378 S1881A probably benign Het
Nalcn T C 14: 123,321,305 E843G probably benign Het
Ngef A G 1: 87,480,579 probably benign Het
Olfr293 T A 7: 86,664,136 I158N probably damaging Het
Osm A G 11: 4,239,507 Y97C probably damaging Het
Pclo T A 5: 14,766,778 L4556Q unknown Het
Pcyox1l T C 18: 61,697,709 D364G probably benign Het
Plekha6 T A 1: 133,283,293 V467E probably benign Het
Qrsl1 A T 10: 43,882,162 S312T probably damaging Het
Ripk1 T A 13: 34,010,589 L70Q probably damaging Het
Rnaseh1 A T 12: 28,655,663 Y162F probably damaging Het
Ror2 T A 13: 53,121,667 T195S probably damaging Het
Sh3bp2 T C 5: 34,551,662 L33P probably damaging Het
Skil T A 3: 31,097,819 C163* probably null Het
Slitrk3 A C 3: 73,050,713 V242G probably damaging Het
Sra1 A G 18: 36,668,792 S82P probably benign Het
Synj2 A G 17: 6,037,924 N1417D probably benign Het
Tas2r122 A G 6: 132,711,615 V105A possibly damaging Het
Ttc21b T C 2: 66,188,280 N1261S probably benign Het
Vmn2r69 A G 7: 85,406,681 S750P probably damaging Het
Wdr95 A G 5: 149,596,321 T568A probably benign Het
Zfp319 T A 8: 95,329,093 I161F possibly damaging Het
Other mutations in Slc25a37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02560:Slc25a37 APN 14 69245292 missense probably benign 0.00
R5405:Slc25a37 UTSW 14 69244895 missense possibly damaging 0.89
R6218:Slc25a37 UTSW 14 69249504 missense possibly damaging 0.48
Posted On2015-04-16