Incidental Mutation 'IGL03008:Mtfr2'
ID 407647
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 # IGL03008
Quality Score
Status
Chromosome 10
Chromosomal Location 20223516-20237050 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20229185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 63 (C63S)
Ref Sequence ENSEMBL: ENSMUSP00000150399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000217608]
AlphaFold Q8VED8
Predicted Effect probably benign
Transcript: ENSMUST00000169712
AA Change: C98S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: C98S

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 40 299 3.7e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213374
Predicted Effect possibly damaging
Transcript: ENSMUST00000217608
AA Change: C63S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dab1 G T 4: 104,584,777 (GRCm39) V306F probably damaging Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Eya3 A C 4: 132,434,294 (GRCm39) D325A probably damaging Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Myocd A C 11: 65,078,392 (GRCm39) L340V probably damaging Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
Or8k41 A T 2: 86,313,678 (GRCm39) M136K probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Rnf10 G T 5: 115,389,355 (GRCm39) H271N possibly damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) probably null Het
Other mutations in Mtfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Mtfr2 APN 10 20,233,394 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02