Incidental Mutation 'R7847:Mtfr2'
ID606692
Institutional Source Beutler Lab
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: 0.112) question?
Stock #R7847 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location20347770-20361304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20357452 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 256 (A256T)
Ref Sequence ENSEMBL: ENSMUSP00000129315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169712] [ENSMUST00000217608]
Predicted Effect probably benign
Transcript: ENSMUST00000169712
AA Change: A256T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: A256T

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 40 299 3.7e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217608
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,568,652 Y296N probably benign Het
Abcc4 T C 14: 118,627,480 E378G probably damaging Het
Acp2 C T 2: 91,210,732 H422Y possibly damaging Het
Aldoart1 C T 4: 72,851,956 C205Y probably damaging Het
Alg9 T C 9: 50,789,605 L225S possibly damaging Het
Anapc1 A C 2: 128,669,908 V455G possibly damaging Het
Arhgef5 C A 6: 43,275,135 S940* probably null Het
Asb15 C A 6: 24,564,267 A240E probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,042,160 probably benign Het
Ccdc17 A G 4: 116,599,906 E529G probably benign Het
Cyp2b10 T C 7: 25,897,760 S26P possibly damaging Het
Dcp1b T C 6: 119,215,295 S391P probably benign Het
Dock6 A T 9: 21,801,207 L2086Q unknown Het
Ephx1 A G 1: 181,001,861 S41P probably benign Het
Erbb3 G A 10: 128,571,189 T1034M probably damaging Het
Gm17334 T A 11: 53,772,738 probably benign Het
Golgb1 A G 16: 36,931,920 H3227R probably damaging Het
Grin2c G A 11: 115,260,978 P52L possibly damaging Het
Herc2 T C 7: 56,157,560 probably null Het
Il17rb A G 14: 29,996,806 Y440H probably damaging Het
Kcng4 A G 8: 119,626,142 L343P probably damaging Het
Knl1 G A 2: 119,070,976 E1053K probably benign Het
Lipo4 A T 19: 33,514,199 V128E possibly damaging Het
Lmntd2 T C 7: 141,210,150 N650D probably benign Het
Lrrfip2 T C 9: 111,213,880 L460P probably damaging Het
Man2a2 G C 7: 80,368,865 A82G probably benign Het
Mtcl1 T C 17: 66,344,333 Q1379R probably damaging Het
Mup17 T A 4: 61,593,219 H159L probably benign Het
Ndufaf1 A T 2: 119,660,053 D175E probably damaging Het
Nup210l A G 3: 90,151,123 M610V probably benign Het
Olfr1338 G T 4: 118,754,368 H59N possibly damaging Het
Olfr1354 T A 10: 78,916,896 S19T probably benign Het
Olfr955 A G 9: 39,470,505 S74P probably benign Het
Pard3b A G 1: 62,343,934 D729G probably benign Het
Phactr1 T C 13: 43,057,188 L169P possibly damaging Het
Rad54b T A 4: 11,612,655 S762R probably damaging Het
Senp5 C T 16: 31,990,173 V88I probably benign Het
Specc1l T C 10: 75,309,836 V1105A probably damaging Het
Trak2 A C 1: 58,935,818 S72A possibly damaging Het
Ttyh2 T C 11: 114,675,674 probably null Het
Ush2a G A 1: 188,430,808 C1029Y probably damaging Het
Vmn2r17 A G 5: 109,420,197 Y62C probably damaging Het
Vmn2r41 A G 7: 8,161,548 F2L probably benign Het
Xirp1 G T 9: 120,019,753 D21E possibly damaging Het
Zfp114 C A 7: 24,181,035 Q270K possibly damaging Het
Zfp341 T C 2: 154,634,194 S441P probably damaging Het
Zfp780b A C 7: 27,964,418 H237Q probably benign Het
Other mutations in Mtfr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Mtfr2 APN 10 20357648 missense probably damaging 1.00
IGL01547:Mtfr2 APN 10 20357599 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
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
Predicted Primers PCR Primer
(F):5'- ATGAACAAGTGCCGCCATCATC -3'
(R):5'- TGCAAACTTCTGCTTCAGTGC -3'

Sequencing Primer
(F):5'- ATCATCAGCGACCACTGGG -3'
(R):5'- GCAAACTTCTGCTTCAGTGCATTAG -3'
Posted On2019-12-20