Incidental Mutation 'R5099:Mff'
ID 388160
Institutional Source Beutler Lab
Gene Symbol Mff
Ensembl Gene ENSMUSG00000026150
Gene Name mitochondrial fission factor
Synonyms 5230400G24Rik
MMRRC Submission 042688-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # R5099 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 82702611-82730115 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 82728192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073025] [ENSMUST00000078332] [ENSMUST00000160744] [ENSMUST00000160972] [ENSMUST00000161648] [ENSMUST00000160786] [ENSMUST00000162003]
AlphaFold Q6PCP5
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 benign
Transcript: ENSMUST00000078332
SMART Domains Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150

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 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 noncoding transcript
Transcript: ENSMUST00000162573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162794
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 benign
Transcript: ENSMUST00000160786
SMART Domains Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 238 6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162003
SMART Domains Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150

DomainStartEndE-ValueType
Pfam:Miff 1 316 8.1e-143 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (41/42)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsa A G 15: 89,359,542 (GRCm39) L80P probably damaging Het
Bdkrb1 A G 12: 105,570,533 (GRCm39) D33G probably benign Het
Ccdc178 A T 18: 22,238,648 (GRCm39) V323E probably benign Het
Ceacam5 T C 7: 17,479,513 (GRCm39) V210A probably damaging Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Gbp9 A T 5: 105,242,379 (GRCm39) L120Q probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gsr T A 8: 34,161,556 (GRCm39) I121N probably damaging Het
Ift140 T A 17: 25,309,674 (GRCm39) M1068K probably damaging Het
Jakmip2 A G 18: 43,701,173 (GRCm39) I414T probably benign Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mecom A G 3: 30,039,465 (GRCm39) probably benign Het
Ms4a20 T C 19: 11,089,825 (GRCm39) probably null Het
Neb C T 2: 52,085,460 (GRCm39) C1545Y probably damaging Het
Or5ac24 C T 16: 59,165,266 (GRCm39) G266D probably benign Het
Or5p5 A G 7: 107,413,809 (GRCm39) H6R probably benign Het
Or8k36-ps1 A T 2: 86,437,560 (GRCm39) N118K unknown Het
Ppm1n A T 7: 19,011,903 (GRCm39) L392Q possibly damaging Het
Prr22 T C 17: 57,078,467 (GRCm39) F207L probably benign Het
Ptprv T C 1: 135,046,592 (GRCm39) noncoding transcript Het
Rin2 G A 2: 145,720,821 (GRCm39) C718Y probably damaging Het
Rpgrip1l G A 8: 91,975,350 (GRCm39) T1089I probably benign Het
Scn1a A G 2: 66,108,145 (GRCm39) V1510A probably damaging Het
Slfn3 A T 11: 83,105,764 (GRCm39) Y587F probably damaging Het
Sp2 T C 11: 96,852,175 (GRCm39) K250E probably damaging Het
Ssu2 A G 6: 112,336,585 (GRCm39) S333P probably benign Het
Strbp T C 2: 37,493,030 (GRCm39) T419A probably damaging Het
Tada2b A T 5: 36,633,744 (GRCm39) M203K probably benign Het
Tmem176b T C 6: 48,811,463 (GRCm39) Y62C probably benign Het
Tox G T 4: 6,688,958 (GRCm39) Q469K probably benign Het
Trgv5 G T 13: 19,376,886 (GRCm39) C111F probably damaging Het
Tyw5 T C 1: 57,427,864 (GRCm39) N243D probably damaging Het
Ube2q2 T A 9: 55,113,307 (GRCm39) probably benign Het
Ufl1 C T 4: 25,275,914 (GRCm39) R83Q probably damaging Het
Unk A G 11: 115,949,936 (GRCm39) Q701R probably benign Het
Vmn1r60 A T 7: 5,547,816 (GRCm39) C95S probably damaging Het
Vmn1r81 A G 7: 11,994,248 (GRCm39) I120T possibly damaging Het
Other mutations in Mff
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Mff APN 1 82,719,696 (GRCm39) missense probably damaging 1.00
IGL02934:Mff APN 1 82,724,815 (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
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
Predicted Primers PCR Primer
(F):5'- AGGGCCCGTTATCATTGTTGC -3'
(R):5'- TGAATTCACGGAATCCACAGGAG -3'

Sequencing Primer
(F):5'- CGTTATCATTGTTGCATTTTCTGGC -3'
(R):5'- GCATCTACCACAGTCATG -3'
Posted On 2016-06-06