Incidental Mutation 'IGL03381:Mff'
ID420688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mff
Ensembl Gene ENSMUSG00000026150
Gene Namemitochondrial fission factor
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL03381
Quality Score
Status
Chromosome1
Chromosomal Location82724890-82752394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82741940 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 213 (Y213C)
Ref Sequence ENSEMBL: ENSMUSP00000124334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073025] [ENSMUST00000078332] [ENSMUST00000160744] [ENSMUST00000160786] [ENSMUST00000160972] [ENSMUST00000161648] [ENSMUST00000162003]
Predicted Effect probably benign
Transcript: ENSMUST00000073025
SMART Domains Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 239 6.6e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078332
AA Change: Y188C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: Y188C

DomainStartEndE-ValueType
Pfam:Miff 1 291 2.2e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159279
SMART Domains Protein: ENSMUSP00000123713
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 147 1.6e-60 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 damaging
Transcript: ENSMUST00000160744
AA Change: Y54C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150
AA Change: Y54C

DomainStartEndE-ValueType
Pfam:Miff 1 137 2.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160750
SMART Domains Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 155 6.2e-67 PFAM
Pfam:Miff 144 220 2.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160786
SMART Domains Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150

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: Y213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: Y213C

DomainStartEndE-ValueType
Pfam:Miff 1 316 8.1e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185536
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,589,136 S120G probably damaging Het
A330017A19Rik T C 17: 46,889,886 probably benign Het
Abca16 T C 7: 120,527,818 F1243S probably benign Het
Adgrv1 A G 13: 81,517,967 V1990A probably damaging Het
Arhgdib G A 6: 136,932,316 T69I probably benign Het
Atf2 G A 2: 73,828,668 A214V probably benign Het
Ccr2 G A 9: 124,106,372 V230I probably benign Het
Cnksr1 T C 4: 134,232,171 E384G probably damaging Het
Epha5 T A 5: 84,331,332 D271V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm13083 T C 4: 143,617,055 probably benign Het
Gpr15 A G 16: 58,717,976 F250S probably damaging Het
Gzmf A T 14: 56,206,993 V41E probably benign Het
H2-T10 C T 17: 36,119,354 D232N probably benign Het
H2-T10 T A 17: 36,119,357 K231* probably null Het
Hsd3b6 A G 3: 98,807,812 V88A possibly damaging Het
Kit C T 5: 75,607,128 T57M probably benign Het
Klhl22 A G 16: 17,792,727 D614G possibly damaging Het
Matr3 T A 18: 35,579,025 probably benign Het
Mrnip A G 11: 50,199,590 T194A probably benign Het
Msh6 T C 17: 87,985,109 F431L probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Nlrc3 A G 16: 3,964,315 V410A probably benign Het
Olfr1225 A G 2: 89,171,179 I11T possibly damaging Het
Olfr1462 T A 19: 13,191,405 V246D probably damaging Het
Olfr69 T C 7: 103,767,837 I187V probably benign Het
Psip1 T C 4: 83,485,785 T2A probably benign Het
Rbm33 T C 5: 28,394,392 F921L unknown Het
Rhbdl2 T C 4: 123,822,817 V189A possibly damaging Het
Rpap2 C T 5: 107,620,201 P302S probably benign Het
Sec23ip T A 7: 128,750,305 V32D probably damaging Het
Sh3yl1 T C 12: 30,926,837 I47T possibly damaging Het
Tenm2 A C 11: 36,068,411 S1104A probably benign Het
Ufd1 A G 16: 18,825,757 D190G probably damaging Het
Ugt1a7c T C 1: 88,095,790 F224L probably benign Het
Utp20 G T 10: 88,822,005 F64L probably damaging Het
Vmn1r198 A G 13: 22,354,836 Y164C probably benign Het
Wdcp T A 12: 4,851,926 V594D probably damaging Het
Xirp2 A C 2: 67,514,226 E2270D probably benign Het
Other mutations in Mff
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Mff APN 1 82741975 missense probably damaging 1.00
IGL02934:Mff APN 1 82747094 missense probably damaging 1.00
R0652:Mff UTSW 1 82750564 missense possibly damaging 0.91
R0755:Mff UTSW 1 82750605 critical splice donor site probably null
R1215:Mff UTSW 1 82741888 missense probably benign 0.45
R2074:Mff UTSW 1 82751700 missense probably damaging 1.00
R2078:Mff UTSW 1 82741921 missense probably damaging 1.00
R2365:Mff UTSW 1 82735471 missense possibly damaging 0.74
R4498:Mff UTSW 1 82741780 intron probably benign
R5099:Mff UTSW 1 82750471 intron probably benign
R5867:Mff UTSW 1 82750606 critical splice donor site probably null
R5984:Mff UTSW 1 82731127 missense probably benign 0.00
R6723:Mff UTSW 1 82751666 missense possibly damaging 0.91
R7135:Mff UTSW 1 82747091 nonsense probably null
R7373:Mff UTSW 1 82737117 splice site probably null
R7475:Mff UTSW 1 82745438 splice site probably null
R7792:Mff UTSW 1 82747081 critical splice acceptor site probably null
R8088:Mff UTSW 1 82751649 missense probably damaging 1.00
Posted On2016-08-02