Incidental Mutation 'IGL01547:Mtfr2'
ID90368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtfr2
Ensembl Gene ENSMUSG00000019992
Gene Namemitochondrial fission regulator 2
SynonymsFam54a, 2610016C23Rik, 4933412C16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL01547
Quality Score
Status
Chromosome10
Chromosomal Location20347770-20361304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 20357599 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 305 (P305S)
Ref Sequence ENSEMBL: ENSMUSP00000129315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000217608]
Predicted Effect probably damaging
Transcript: ENSMUST00000169712
AA Change: P305S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: P305S

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,455,262 G243R possibly damaging Het
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bag1 A G 4: 40,936,661 C332R probably damaging Het
Bcas2 T C 3: 103,171,999 Y49H probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Olfr301 A G 7: 86,412,871 N170D possibly damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Tgm5 A G 2: 121,049,202 probably benign Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in Mtfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Mtfr2 APN 10 20357648 missense probably damaging 1.00
IGL01763:Mtfr2 APN 10 20352937 intron probably benign
IGL01862:Mtfr2 APN 10 20348403 missense probably benign 0.06
IGL02707:Mtfr2 APN 10 20348338 missense probably benign 0.40
IGL03008:Mtfr2 APN 10 20353439 missense possibly damaging 0.86
R0049:Mtfr2 UTSW 10 20348412 missense probably damaging 1.00
R0049:Mtfr2 UTSW 10 20348412 missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20348376 missense probably damaging 1.00
R0097:Mtfr2 UTSW 10 20348376 missense probably damaging 1.00
R1186:Mtfr2 UTSW 10 20352852 missense probably benign 0.00
R4466:Mtfr2 UTSW 10 20348413 missense probably damaging 1.00
R5288:Mtfr2 UTSW 10 20357702 missense probably damaging 0.99
R5373:Mtfr2 UTSW 10 20352852 missense probably benign 0.30
R6999:Mtfr2 UTSW 10 20354116 missense probably benign 0.05
R7066:Mtfr2 UTSW 10 20354226 missense possibly damaging 0.91
R7095:Mtfr2 UTSW 10 20352920 missense probably benign
R7112:Mtfr2 UTSW 10 20357566 missense probably damaging 0.97
R7506:Mtfr2 UTSW 10 20353385 missense probably benign 0.06
R7847:Mtfr2 UTSW 10 20357452 missense probably benign 0.15
R8017:Mtfr2 UTSW 10 20354154 missense probably damaging 0.99
R8019:Mtfr2 UTSW 10 20354154 missense probably damaging 0.99
R8049:Mtfr2 UTSW 10 20352857 missense possibly damaging 0.95
R8082:Mtfr2 UTSW 10 20353389 missense probably benign 0.02
Posted On2013-12-03