Incidental Mutation 'R9586:Slc25a37'
ID 722810
Institutional Source Beutler Lab
Gene Symbol Slc25a37
Ensembl Gene ENSMUSG00000034248
Gene Name solute carrier family 25, member 37
Synonyms 4930526G11Rik, C330015G08Rik, Frascati, Mscp, Mfrn1, 1700020E22Rik, 4930513O14Rik, mitoferrin, Mfrn
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9586 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 69479297-69522561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69482421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 293 (N293K)
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: N293K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039990
Gene: ENSMUSG00000034248
AA Change: N293K

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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip5 C T 6: 97,206,572 (GRCm39) A84V possibly damaging Het
Cep170 G A 1: 176,563,463 (GRCm39) P716L possibly damaging Het
Chrm3 A T 13: 9,927,480 (GRCm39) C519S probably damaging Het
Dnase1l3 A T 14: 7,967,796 (GRCm38) V299D possibly damaging Het
Dync1h1 T C 12: 110,582,975 (GRCm39) L386P probably damaging Het
Elmo3 A G 8: 106,034,760 (GRCm39) Y382C probably damaging Het
Eprs1 T C 1: 185,139,746 (GRCm39) L945P Het
Fstl4 A T 11: 53,077,729 (GRCm39) I829L probably benign Het
Gm36210 T A 7: 4,909,324 (GRCm39) R45* probably null Het
Homer2 C T 7: 81,260,113 (GRCm39) R318Q probably benign Het
Ice2 G A 9: 69,314,478 (GRCm39) E76K probably damaging Het
Ifi203 T A 1: 173,754,623 (GRCm39) R703* probably null Het
Insyn2a T C 7: 134,520,180 (GRCm39) T117A probably damaging Het
Lonp1 G A 17: 56,924,839 (GRCm39) R523C probably damaging Het
Myh10 G A 11: 68,703,820 (GRCm39) V1881I possibly damaging Het
Nfe2 T C 15: 103,157,244 (GRCm39) D249G probably damaging Het
Nvl A T 1: 180,932,635 (GRCm39) probably null Het
Oog3 A T 4: 143,884,966 (GRCm39) C323* probably null Het
Ovgp1 A G 3: 105,881,138 (GRCm39) R3G probably damaging Het
Pex1 A G 5: 3,676,047 (GRCm39) I838M probably damaging Het
Rps6kc1 C A 1: 190,514,774 (GRCm39) M1006I probably benign Het
Rpusd1 A G 17: 25,947,292 (GRCm39) T37A probably damaging Het
Sema6d C A 2: 124,496,096 (GRCm39) R47S probably damaging Het
Serpini2 G A 3: 75,166,891 (GRCm39) T122I probably benign Het
Slc10a7 A G 8: 79,456,266 (GRCm39) I289M probably damaging Het
Sspo G A 6: 48,458,039 (GRCm39) A3281T probably benign Het
Stard13 A T 5: 150,985,832 (GRCm39) N559K possibly damaging Het
Tmem87b T A 2: 128,660,260 (GRCm39) M1K probably null Het
Vmn1r199 C T 13: 22,567,716 (GRCm39) R337C probably benign Het
Vmn1r55 T A 7: 5,149,770 (GRCm39) N218Y probably benign Het
Vmn2r41 T G 7: 8,141,742 (GRCm39) Q574P Het
Vmn2r45 T C 7: 8,486,050 (GRCm39) N413D probably benign Het
Wdr33 T C 18: 31,966,669 (GRCm39) S170P probably damaging Het
Zfp385a A T 15: 103,241,580 (GRCm39) I20N probably damaging Het
Zfp493 A G 13: 67,932,017 (GRCm39) S39G possibly damaging Het
Other mutations in Slc25a37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02478:Slc25a37 APN 14 69,486,883 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGTCAGAACCACTTCCCACTG -3'
(R):5'- ATCACCTATGAGTTTCTGCAGG -3'

Sequencing Primer
(F):5'- GCCCCATTCCTTTAGTACAGAG -3'
(R):5'- GGAGCAAGTCAACCCTCG -3'
Posted On 2022-08-09