Incidental Mutation 'R2179:Mtfr1'
ID 237036
Institutional Source Beutler Lab
Gene Symbol Mtfr1
Ensembl Gene ENSMUSG00000027601
Gene Name mitochondrial fission regulator 1
Synonyms 2810026O10Rik, 4930579E05Rik, 1300002C08Rik, 1700080D04Rik, Fam54a2
MMRRC Submission 040181-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 19241491-19274981 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 19254308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 15 (R15*)
Ref Sequence ENSEMBL: ENSMUSP00000115983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029129] [ENSMUST00000117529] [ENSMUST00000119865] [ENSMUST00000130645] [ENSMUST00000130806] [ENSMUST00000132035] [ENSMUST00000138777]
AlphaFold Q99MB2
Predicted Effect probably null
Transcript: ENSMUST00000029129
AA Change: R15*
SMART Domains Protein: ENSMUSP00000029129
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 55 1.1e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117529
AA Change: R15*
SMART Domains Protein: ENSMUSP00000112824
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 249 2.8e-87 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119865
AA Change: R15*
SMART Domains Protein: ENSMUSP00000112752
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 249 2.8e-87 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130645
AA Change: R15*
SMART Domains Protein: ENSMUSP00000119724
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 22 249 2.8e-83 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130806
AA Change: R15*
SMART Domains Protein: ENSMUSP00000123464
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 168 2.2e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132035
AA Change: R15*
SMART Domains Protein: ENSMUSP00000117132
Gene: ENSMUSG00000027601
AA Change: R15*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 83 1.4e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000138777
AA Change: R15*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased oxidative DNA damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Gucy2e A T 11: 69,119,404 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Ikbkb C T 8: 23,171,769 (GRCm39) probably null Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mga T A 2: 119,790,923 (GRCm39) S2479T probably damaging Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Or6s1 A G 14: 51,308,238 (GRCm39) V204A probably benign Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Paics A T 5: 77,109,291 (GRCm39) I209F probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly damaging Het
Other mutations in Mtfr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1818:Mtfr1 UTSW 3 19,269,837 (GRCm39) missense probably damaging 0.99
R3009:Mtfr1 UTSW 3 19,269,750 (GRCm39) missense probably benign 0.10
R3147:Mtfr1 UTSW 3 19,271,374 (GRCm39) missense probably benign 0.00
R4300:Mtfr1 UTSW 3 19,269,621 (GRCm39) splice site probably null
R4584:Mtfr1 UTSW 3 19,269,766 (GRCm39) missense probably damaging 1.00
R5000:Mtfr1 UTSW 3 19,265,743 (GRCm39) missense probably damaging 1.00
R9539:Mtfr1 UTSW 3 19,271,422 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGAGACATGCAAACATAGAGATTC -3'
(R):5'- AGAAGTCACTGTCTTGCGGTAC -3'

Sequencing Primer
(F):5'- AAACTGATCTCATCTTAGTGCCCAG -3'
(R):5'- ACTGTCTTGCGGTACTGGGAAC -3'
Posted On 2014-10-02