Incidental Mutation 'IGL02934:Mff'
ID 364205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mff
Ensembl Gene ENSMUSG00000026150
Gene Name mitochondrial fission factor
Synonyms 5230400G24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # IGL02934
Quality Score
Status
Chromosome 1
Chromosomal Location 82702611-82730115 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82724815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 229 (R229H)
Ref Sequence ENSEMBL: ENSMUSP00000124334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073025] [ENSMUST00000078332] [ENSMUST00000160744] [ENSMUST00000160786] [ENSMUST00000160972] [ENSMUST00000161648] [ENSMUST00000162003]
AlphaFold Q6PCP5
Predicted Effect probably damaging
Transcript: ENSMUST00000073025
AA Change: R152H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150
AA Change: R152H

DomainStartEndE-ValueType
Pfam:Miff 1 239 6.6e-101 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000078332
AA Change: R204H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: R204H

DomainStartEndE-ValueType
Pfam:Miff 1 291 2.2e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160044
SMART Domains Protein: ENSMUSP00000125005
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 130 7.5e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160632
Predicted Effect probably benign
Transcript: ENSMUST00000160744
SMART Domains Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 137 2.6e-44 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160750
AA Change: R156H
SMART Domains Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150
AA Change: R156H

DomainStartEndE-ValueType
Pfam:Miff 1 155 6.2e-67 PFAM
Pfam:Miff 144 220 2.6e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160786
AA Change: R151H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
AA Change: R151H

DomainStartEndE-ValueType
Pfam:Miff 1 238 6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160972
SMART Domains Protein: ENSMUSP00000124200
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 152 8.1e-60 PFAM
Pfam:Miff 146 218 1.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161648
SMART Domains Protein: ENSMUSP00000124164
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 243 1.1e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162003
AA Change: R229H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: R229H

DomainStartEndE-ValueType
Pfam:Miff 1 316 8.1e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188333
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout reduces mitochondrial hyperfusion-induced apoptotic cell death of endothelial cells of cardiac microvessels after induced ischemia/reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Mff
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Mff APN 1 82,719,696 (GRCm39) missense probably damaging 1.00
IGL03381:Mff APN 1 82,719,661 (GRCm39) missense probably damaging 1.00
R0652:Mff UTSW 1 82,728,285 (GRCm39) missense possibly damaging 0.91
R0755:Mff UTSW 1 82,728,326 (GRCm39) critical splice donor site probably null
R1215:Mff UTSW 1 82,719,609 (GRCm39) missense probably benign 0.45
R2074:Mff UTSW 1 82,729,421 (GRCm39) missense probably damaging 1.00
R2078:Mff UTSW 1 82,719,642 (GRCm39) missense probably damaging 1.00
R2365:Mff UTSW 1 82,713,192 (GRCm39) missense possibly damaging 0.74
R4498:Mff UTSW 1 82,719,501 (GRCm39) intron probably benign
R5099:Mff UTSW 1 82,728,192 (GRCm39) intron probably benign
R5867:Mff UTSW 1 82,728,327 (GRCm39) critical splice donor site probably null
R5984:Mff UTSW 1 82,708,848 (GRCm39) missense probably benign 0.00
R6723:Mff UTSW 1 82,729,387 (GRCm39) missense possibly damaging 0.91
R7135:Mff UTSW 1 82,724,812 (GRCm39) nonsense probably null
R7373:Mff UTSW 1 82,714,838 (GRCm39) splice site probably null
R7475:Mff UTSW 1 82,723,159 (GRCm39) splice site probably null
R7792:Mff UTSW 1 82,724,802 (GRCm39) critical splice acceptor site probably null
R8088:Mff UTSW 1 82,729,370 (GRCm39) missense probably damaging 1.00
R9375:Mff UTSW 1 82,707,007 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18