Incidental Mutation 'R3009:Mtfr1'
ID 257456
Institutional Source Beutler Lab
Gene Symbol Mtfr1
Ensembl Gene ENSMUSG00000027601
Gene Name mitochondrial fission regulator 1
Synonyms 2810026O10Rik, 4930579E05Rik, 1300002C08Rik, 1700080D04Rik, Fam54a2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3009 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 19241491-19274981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19269750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 133 (T133S)
Ref Sequence ENSEMBL: ENSMUSP00000119724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029129] [ENSMUST00000117529] [ENSMUST00000119865] [ENSMUST00000130645] [ENSMUST00000130806] [ENSMUST00000132035] [ENSMUST00000138777]
AlphaFold Q99MB2
Predicted Effect probably benign
Transcript: ENSMUST00000029129
SMART Domains Protein: ENSMUSP00000029129
Gene: ENSMUSG00000027601

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 55 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117529
AA Change: T133S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112824
Gene: ENSMUSG00000027601
AA Change: T133S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 249 2.8e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119865
AA Change: T133S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112752
Gene: ENSMUSG00000027601
AA Change: T133S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 249 2.8e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130645
AA Change: T133S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000119724
Gene: ENSMUSG00000027601
AA Change: T133S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 22 249 2.8e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130806
AA Change: T133S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123464
Gene: ENSMUSG00000027601
AA Change: T133S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 168 2.2e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131053
Predicted Effect probably benign
Transcript: ENSMUST00000132035
SMART Domains Protein: ENSMUSP00000117132
Gene: ENSMUSG00000027601

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 20 83 1.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138777
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A G 10: 4,307,891 (GRCm39) D1567G probably benign Het
Bmp3 T C 5: 99,027,696 (GRCm39) S439P probably damaging Het
Btnl2 C T 17: 34,582,492 (GRCm39) R353C probably damaging Het
Galc T C 12: 98,170,228 (GRCm39) D676G probably damaging Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Gprc6a T C 10: 51,504,392 (GRCm39) T151A probably benign Het
Limk2 A G 11: 3,309,046 (GRCm39) I104T probably benign Het
Mei1 A G 15: 81,996,726 (GRCm39) H585R probably damaging Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Or12k8 T C 2: 36,975,089 (GRCm39) I224V probably benign Het
Or5h22 A G 16: 58,895,350 (GRCm39) V31A probably benign Het
Or6b13 T C 7: 139,782,669 (GRCm39) R5G probably benign Het
Or8k35 T C 2: 86,424,714 (GRCm39) T153A probably benign Het
Prkg1 G A 19: 31,641,512 (GRCm39) T57I possibly damaging Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Urb1 A G 16: 90,571,686 (GRCm39) I1041T probably benign Het
Vmn2r72 A T 7: 85,398,850 (GRCm39) M501K probably benign Het
Vmn2r91 G A 17: 18,325,717 (GRCm39) V112I probably benign Het
Other mutations in Mtfr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1818:Mtfr1 UTSW 3 19,269,837 (GRCm39) missense probably damaging 0.99
R2179:Mtfr1 UTSW 3 19,254,308 (GRCm39) nonsense probably null
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'- TACAGCTGGGGAATAGTGACTTG -3'
(R):5'- AGAGAAGACACAGCTTGCAC -3'

Sequencing Primer
(F):5'- ATACCCTGATGAGCAGTGTG -3'
(R):5'- GCTTGCACTGTCCAGTCACAAC -3'
Posted On 2015-01-11