Incidental Mutation 'R3147:Mtfr1'
ID 264272
Institutional Source Beutler Lab
Gene Symbol Mtfr1
Ensembl Gene ENSMUSG00000027601
Gene Name mitochondrial fission regulator 1
Synonyms 2810026O10Rik, 4930579E05Rik, 1300002C08Rik, 1700080D04Rik, Fam54a2
MMRRC Submission 040599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R3147 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 19241491-19274981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19271374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000119724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029129] [ENSMUST00000117529] [ENSMUST00000119865] [ENSMUST00000130645] [ENSMUST00000130806] [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: V182A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112824
Gene: ENSMUSG00000027601
AA Change: V182A

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: V182A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112752
Gene: ENSMUSG00000027601
AA Change: V182A

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: V182A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000119724
Gene: ENSMUSG00000027601
AA Change: V182A

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
SMART Domains Protein: ENSMUSP00000123464
Gene: ENSMUSG00000027601

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: ENSMUST00000138777
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T C X: 66,964,984 (GRCm39) D12G probably benign Het
Alg2 A T 4: 47,472,259 (GRCm39) V183D probably damaging Het
Amy1 T C 3: 113,363,697 (GRCm39) probably benign Het
Asb15 G T 6: 24,566,258 (GRCm39) A404S probably damaging Het
Atf2 T C 2: 73,681,283 (GRCm39) probably null Het
Atosa A G 9: 74,916,120 (GRCm39) I240V probably benign Het
Baalc A T 15: 38,812,568 (GRCm39) E106V possibly damaging Het
Catsperd G T 17: 56,971,039 (GRCm39) C701F possibly damaging Het
Cc2d2a T A 5: 43,866,497 (GRCm39) I769N probably damaging Het
Ccdc158 T C 5: 92,805,822 (GRCm39) N311S probably damaging Het
Dbx1 C A 7: 49,286,297 (GRCm39) R56L probably damaging Het
Eif4enif1 T A 11: 3,194,003 (GRCm39) probably null Het
Elmod3 T G 6: 72,563,485 (GRCm39) T48P probably benign Het
Erbb2 T C 11: 98,324,865 (GRCm39) S820P probably damaging Het
Gimap8 T C 6: 48,627,440 (GRCm39) V138A probably damaging Het
H1f5 T C 13: 21,964,285 (GRCm39) probably benign Het
Il6ra G T 3: 89,793,235 (GRCm39) P305Q probably benign Het
Kcng3 A G 17: 83,895,749 (GRCm39) V239A possibly damaging Het
Kcnrg T C 14: 61,845,140 (GRCm39) F60S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama1 A G 17: 68,044,653 (GRCm39) D184G probably damaging Het
Lhcgr A T 17: 89,065,771 (GRCm39) L206Q probably damaging Het
Lhx3 T C 2: 26,091,277 (GRCm39) D344G probably benign Het
Marf1 A G 16: 13,943,843 (GRCm39) V1380A possibly damaging Het
Mtcl2 T G 2: 156,862,284 (GRCm39) K1548N possibly damaging Het
Or14a259 A G 7: 86,013,092 (GRCm39) L151S probably benign Het
Or5p64 C T 7: 107,854,883 (GRCm39) G154D possibly damaging Het
Rsf1 CG CGACGGAGGAG 7: 97,229,115 (GRCm39) probably benign Het
Snx4 A C 16: 33,108,094 (GRCm39) D296A probably benign Het
Sox7 A T 14: 64,186,083 (GRCm39) Y373F probably damaging Het
Tuba1b T C 15: 98,830,386 (GRCm39) T145A probably benign Het
Usp32 T A 11: 84,919,913 (GRCm39) N718I probably damaging Het
Wapl G A 14: 34,447,106 (GRCm39) V648M probably damaging Het
Zfp85 C T 13: 67,900,612 (GRCm39) V10M probably damaging Het
Zgrf1 A G 3: 127,377,797 (GRCm39) N1014S possibly damaging 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
R3009:Mtfr1 UTSW 3 19,269,750 (GRCm39) missense probably benign 0.10
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'- GTTTGGGTTCAGAGTCAGACC -3'
(R):5'- CTCACCTCTTGACTGACCGTAG -3'

Sequencing Primer
(F):5'- CAGAGTCAGACCTTTCTTAGTAGCTG -3'
(R):5'- GACTGACCGTAGCTTCACACTG -3'
Posted On 2015-02-05