Incidental Mutation 'IGL00341:Mtfr2'
ID 6122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtfr2
Ensembl Gene ENSMUSG00000019992
Gene Name mitochondrial fission regulator 2
Synonyms 4933412C16Rik, Fam54a, 2610016C23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL00341
Quality Score
Status
Chromosome 10
Chromosomal Location 20223516-20237050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20233394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 321 (D321G)
Ref Sequence ENSEMBL: ENSMUSP00000129315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000217608]
AlphaFold Q8VED8
Predicted Effect probably damaging
Transcript: ENSMUST00000169712
AA Change: D321G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: D321G

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 40 299 3.7e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213374
Predicted Effect probably benign
Transcript: ENSMUST00000217608
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,257,203 (GRCm39) Y519* probably null Het
Bahcc1 A G 11: 120,163,130 (GRCm39) Y476C probably damaging Het
Bclaf1 A T 10: 20,201,745 (GRCm39) E295D probably damaging Het
Bend3 A G 10: 43,387,539 (GRCm39) D644G probably damaging Het
Ccdc122 G A 14: 77,329,179 (GRCm39) M77I probably benign Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Dnah11 T C 12: 118,162,480 (GRCm39) R30G probably benign Het
Hoxc4 A G 15: 102,944,264 (GRCm39) D214G probably damaging Het
Itsn2 A T 12: 4,708,027 (GRCm39) T778S possibly damaging Het
Kcnn2 A G 18: 45,810,138 (GRCm39) probably benign Het
Krtap5-3 G T 7: 141,755,612 (GRCm39) probably benign Het
Lgr5 G T 10: 115,290,369 (GRCm39) Q516K possibly damaging Het
Lrpprc T C 17: 85,057,953 (GRCm39) K759R possibly damaging Het
Nip7 A G 8: 107,783,802 (GRCm39) Y45C possibly damaging Het
Or4c111 T C 2: 88,844,268 (GRCm39) I47V probably benign Het
Pak1ip1 A T 13: 41,161,494 (GRCm39) T84S possibly damaging Het
Ptpn20 C A 14: 33,344,576 (GRCm39) R167S probably benign Het
Rab4b C T 7: 26,872,151 (GRCm39) G190S probably damaging Het
Ropn1l T A 15: 31,443,495 (GRCm39) D179V probably damaging Het
Shc2 C T 10: 79,456,903 (GRCm39) R571Q probably damaging Het
Smad1 A G 8: 80,083,098 (GRCm39) V134A probably damaging Het
Smad6 A G 9: 63,861,263 (GRCm39) V344A probably damaging Het
Tet2 A G 3: 133,193,846 (GRCm39) L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 (GRCm39) V248E probably damaging Het
Ttc7 C T 17: 87,670,992 (GRCm39) T709I possibly damaging Het
Usp31 A G 7: 121,305,893 (GRCm39) L195P probably damaging Het
Vmn2r112 G A 17: 22,837,917 (GRCm39) V793I probably benign Het
Xpo5 T G 17: 46,535,973 (GRCm39) L535R probably damaging Het
Ythdc2 A T 18: 44,983,464 (GRCm39) M544L probably benign Het
Other mutations in Mtfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Mtfr2 APN 10 20,233,345 (GRCm39) missense probably damaging 1.00
IGL01763:Mtfr2 APN 10 20,228,683 (GRCm39) intron probably benign
IGL01862:Mtfr2 APN 10 20,224,149 (GRCm39) missense probably benign 0.06
IGL02707:Mtfr2 APN 10 20,224,084 (GRCm39) missense probably benign 0.40
IGL03008:Mtfr2 APN 10 20,229,185 (GRCm39) missense possibly damaging 0.86
R0049:Mtfr2 UTSW 10 20,224,158 (GRCm39) missense probably damaging 1.00
R0049:Mtfr2 UTSW 10 20,224,158 (GRCm39) missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20,224,122 (GRCm39) missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20,224,122 (GRCm39) missense probably damaging 1.00
R1186:Mtfr2 UTSW 10 20,228,598 (GRCm39) missense probably benign 0.00
R4466:Mtfr2 UTSW 10 20,224,159 (GRCm39) missense probably damaging 1.00
R5288:Mtfr2 UTSW 10 20,233,448 (GRCm39) missense probably damaging 0.99
R5373:Mtfr2 UTSW 10 20,228,598 (GRCm39) missense probably benign 0.30
R6999:Mtfr2 UTSW 10 20,229,862 (GRCm39) missense probably benign 0.05
R7066:Mtfr2 UTSW 10 20,229,972 (GRCm39) missense possibly damaging 0.91
R7095:Mtfr2 UTSW 10 20,228,666 (GRCm39) missense probably benign
R7112:Mtfr2 UTSW 10 20,233,312 (GRCm39) missense probably damaging 0.97
R7506:Mtfr2 UTSW 10 20,229,131 (GRCm39) missense probably benign 0.06
R7847:Mtfr2 UTSW 10 20,233,198 (GRCm39) missense probably benign 0.15
R8017:Mtfr2 UTSW 10 20,229,900 (GRCm39) missense probably damaging 0.99
R8019:Mtfr2 UTSW 10 20,229,900 (GRCm39) missense probably damaging 0.99
R8049:Mtfr2 UTSW 10 20,228,603 (GRCm39) missense possibly damaging 0.95
R8082:Mtfr2 UTSW 10 20,229,135 (GRCm39) missense probably benign 0.02
R8933:Mtfr2 UTSW 10 20,233,274 (GRCm39) missense possibly damaging 0.53
R9428:Mtfr2 UTSW 10 20,233,039 (GRCm39) missense possibly damaging 0.90
Posted On 2012-04-20