Incidental Mutation 'R5000:Mtfr1'
ID389797
Institutional Source Beutler Lab
Gene Symbol Mtfr1
Ensembl Gene ENSMUSG00000027601
Gene Namemitochondrial fission regulator 1
SynonymsFam54a2, 1700080D04Rik, 1300002C08Rik, 2810026O10Rik, 4930579E05Rik
MMRRC Submission 042594-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R5000 (G1)
Quality Score196
Status Validated
Chromosome3
Chromosomal Location19187327-19220817 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19211579 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 93 (L93F)
Ref Sequence ENSEMBL: ENSMUSP00000123464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029129] [ENSMUST00000117529] [ENSMUST00000119865] [ENSMUST00000130645] [ENSMUST00000130806] [ENSMUST00000132035] [ENSMUST00000138777]
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: L93F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112824
Gene: ENSMUSG00000027601
AA Change: L93F

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: L93F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112752
Gene: ENSMUSG00000027601
AA Change: L93F

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: L93F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119724
Gene: ENSMUSG00000027601
AA Change: L93F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Mito_fiss_reg 22 249 2.8e-83 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130806
AA Change: L93F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123464
Gene: ENSMUSG00000027601
AA Change: L93F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (97/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,556,521 F11Y probably benign Het
Abca5 A G 11: 110,310,224 L450P probably damaging Het
Abi1 T A 2: 22,950,199 R357W probably damaging Het
Acot7 G A 4: 152,186,363 G55R probably benign Het
Aicda G A 6: 122,561,867 V14I probably damaging Het
Anxa4 G T 6: 86,765,784 probably benign Het
Apobr T A 7: 126,586,557 D413E possibly damaging Het
Ash1l T C 3: 89,058,634 Y2448H probably damaging Het
Atf7ip A G 6: 136,582,428 E749G probably damaging Het
Atp8b3 A T 10: 80,521,842 N1114K possibly damaging Het
Bdnf C A 2: 109,723,648 N122K probably benign Het
Boc A T 16: 44,490,154 I801N probably damaging Het
Brap A T 5: 121,662,026 K37* probably null Het
Ccar1 C T 10: 62,751,005 E885K unknown Het
Ccdc103 A G 11: 102,884,106 N177S probably benign Het
Ccdc116 G A 16: 17,141,793 P344L possibly damaging Het
Cdca5 T C 19: 6,085,433 S28P possibly damaging Het
Ceacam20 T C 7: 19,965,528 I14T probably damaging Het
Chrnb1 A T 11: 69,787,032 V298E probably damaging Het
Cnksr3 G A 10: 7,126,746 Q149* probably null Het
Csnk1a1 T C 18: 61,578,769 F97L probably damaging Het
Dag1 A T 9: 108,208,017 S642T probably benign Het
Dedd2 A G 7: 25,203,643 V297A possibly damaging Het
Dhcr7 C T 7: 143,841,323 T189M possibly damaging Het
Dlgap1 T C 17: 70,766,058 S691P probably damaging Het
Dmgdh A C 13: 93,688,538 H123P probably damaging Het
Dnah6 C T 6: 73,144,815 V1395I probably benign Het
Dnah7a T C 1: 53,567,042 Y1273C probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Elac2 T C 11: 64,985,553 F3L probably benign Het
Elovl7 A T 13: 108,274,381 K163N probably benign Het
Epg5 T C 18: 77,954,161 V413A probably benign Het
Espl1 T A 15: 102,298,551 L150Q probably damaging Het
F2rl3 T A 8: 72,762,679 L178Q probably damaging Het
Fam120a T C 13: 48,897,667 E754G probably damaging Het
Fam53b T C 7: 132,716,001 N304S probably benign Het
Fbxo41 T C 6: 85,483,919 E269G probably damaging Het
Fcrla T C 1: 170,922,390 T4A probably benign Het
Frmpd1 A T 4: 45,261,931 probably null Het
Gm9376 A G 14: 118,267,290 M45V probably benign Het
Gpr68 G A 12: 100,878,337 A316V probably benign Het
Hmgcl G A 4: 135,962,200 C323Y probably benign Het
Hnrnpu T C 1: 178,329,376 probably benign Het
Ier2 T A 8: 84,662,724 I10F probably damaging Het
Ip6k1 C T 9: 108,045,599 Q234* probably null Het
Llgl2 T C 11: 115,844,902 V108A probably benign Het
Lrfn3 T C 7: 30,360,380 N140S possibly damaging Het
Lrig1 T A 6: 94,611,449 H573L probably damaging Het
Lrrk2 T A 15: 91,749,878 W1393R probably damaging Het
Mrc1 T A 2: 14,244,189 Y179N probably damaging Het
Muc19 T C 15: 91,873,231 noncoding transcript Het
Ndst2 C T 14: 20,724,907 probably null Het
Nmd3 A T 3: 69,717,402 probably benign Het
Nsd3 A G 8: 25,682,577 Y784C probably damaging Het
Olfr1197 A T 2: 88,729,566 I11N probably damaging Het
Olfr1352 G A 10: 78,984,680 V297I probably benign Het
Papln A G 12: 83,774,889 Y297C probably damaging Het
Pdhx T C 2: 103,041,040 probably null Het
Pdpk1 T C 17: 24,111,045 T6A possibly damaging Het
Prcp T C 7: 92,919,160 W267R probably damaging Het
Prg2 T C 2: 84,982,023 S26P probably benign Het
Psg26 A T 7: 18,480,132 Y202N possibly damaging Het
Psrc1 T C 3: 108,380,523 probably benign Het
Rap1gds1 A T 3: 138,956,250 M366K probably damaging Het
Robo4 G T 9: 37,408,368 R527L probably benign Het
Sel1l3 G A 5: 53,200,434 T72M probably damaging Het
Selenoo G A 15: 89,094,184 R270H probably damaging Het
Sema3d A G 5: 12,448,038 T4A probably benign Het
Shroom1 A T 11: 53,467,117 probably benign Het
Slc25a19 T C 11: 115,616,671 probably null Het
Snx29 A C 16: 11,403,507 I266L probably damaging Het
Spo11 T C 2: 172,989,400 S255P probably damaging Het
Spock3 T C 8: 63,245,124 V167A possibly damaging Het
Tmc7 A G 7: 118,558,854 probably null Het
Tmtc4 A G 14: 122,933,331 V509A possibly damaging Het
Trim24 A G 6: 37,958,612 D880G probably benign Het
Ube2j2 G A 4: 155,946,384 M1I probably null Het
Ubr4 T A 4: 139,436,169 C2627S probably damaging Het
Unc5d A T 8: 28,715,747 M512K possibly damaging Het
Usp18 A G 6: 121,252,520 R33G possibly damaging Het
Utp23 T A 15: 51,882,173 V23D probably damaging Het
Wdr17 T A 8: 54,665,126 M512L possibly damaging Het
Wdr64 T A 1: 175,726,375 probably null Het
Zbtb6 T C 2: 37,429,239 T226A probably benign Het
Zc3hc1 T A 6: 30,375,988 H191L possibly damaging Het
Zdhhc4 C A 5: 143,324,933 C48F probably damaging Het
Zfp335 T A 2: 164,894,668 T1016S probably benign Het
Zfp583 A G 7: 6,325,474 Y39H probably damaging Het
Other mutations in Mtfr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1818:Mtfr1 UTSW 3 19215673 missense probably damaging 0.99
R2179:Mtfr1 UTSW 3 19200144 nonsense probably null
R3009:Mtfr1 UTSW 3 19215586 missense probably benign 0.10
R3147:Mtfr1 UTSW 3 19217210 missense probably benign 0.00
R4300:Mtfr1 UTSW 3 19215457 splice site probably null
R4584:Mtfr1 UTSW 3 19215602 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTAGCACCAGCCTGATGC -3'
(R):5'- GCAGGGAATTCTGTGGTTCAAAAG -3'

Sequencing Primer
(F):5'- GCCATGCAACAGAATGGA -3'
(R):5'- CTGTGGTTCAAAAGGACTTAGGC -3'
Posted On2016-06-06