Incidental Mutation 'IGL01862:Mtfr2'
ID178362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtfr2
Ensembl Gene ENSMUSG00000019992
Gene Namemitochondrial fission regulator 2
SynonymsFam54a, 2610016C23Rik, 4933412C16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01862
Quality Score
Status
Chromosome10
Chromosomal Location20347770-20361304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20348403 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 28 (V28M)
Ref Sequence ENSEMBL: ENSMUSP00000129315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000191438] [ENSMUST00000217608]
Predicted Effect probably benign
Transcript: ENSMUST00000169712
AA Change: V28M

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: V28M

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 40 299 3.7e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191438
SMART Domains Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 1 502 1.3e-140 PFAM
low complexity region 525 538 N/A INTRINSIC
low complexity region 562 583 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213374
Predicted Effect probably benign
Transcript: ENSMUST00000217608
AA Change: V28M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Lrch4 A T 5: 137,637,009 I254F probably damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mapt T A 11: 104,290,002 probably benign Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Phf19 A C 2: 34,897,055 probably null Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Rhd T C 4: 134,890,339 I329T possibly damaging Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Mtfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Mtfr2 APN 10 20357648 missense probably damaging 1.00
IGL01547:Mtfr2 APN 10 20357599 missense probably damaging 1.00
IGL01763:Mtfr2 APN 10 20352937 intron probably benign
IGL02707:Mtfr2 APN 10 20348338 missense probably benign 0.40
IGL03008:Mtfr2 APN 10 20353439 missense possibly damaging 0.86
R0049:Mtfr2 UTSW 10 20348412 missense probably damaging 1.00
R0049:Mtfr2 UTSW 10 20348412 missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20348376 missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20348376 missense probably damaging 1.00
R1186:Mtfr2 UTSW 10 20352852 missense probably benign 0.00
R4466:Mtfr2 UTSW 10 20348413 missense probably damaging 1.00
R5288:Mtfr2 UTSW 10 20357702 missense probably damaging 0.99
R5373:Mtfr2 UTSW 10 20352852 missense probably benign 0.30
R6999:Mtfr2 UTSW 10 20354116 missense probably benign 0.05
R7066:Mtfr2 UTSW 10 20354226 missense possibly damaging 0.91
R7095:Mtfr2 UTSW 10 20352920 missense probably benign
R7112:Mtfr2 UTSW 10 20357566 missense probably damaging 0.97
R7506:Mtfr2 UTSW 10 20353385 missense probably benign 0.06
Posted On2014-05-07