Incidental Mutation 'IGL02338:Mtfr1l'
ID 288937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtfr1l
Ensembl Gene ENSMUSG00000046671
Gene Name mitochondrial fission regulator 1-like
Synonyms 2410166I05Rik, Fam54b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02338
Quality Score
Status
Chromosome 4
Chromosomal Location 134252866-134262698 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134258054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 56 (V56D)
Ref Sequence ENSEMBL: ENSMUSP00000117943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102550] [ENSMUST00000116279] [ENSMUST00000131613] [ENSMUST00000146808] [ENSMUST00000154769]
AlphaFold Q9CWE0
Predicted Effect probably damaging
Transcript: ENSMUST00000102550
AA Change: V56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671
AA Change: V56D

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116279
AA Change: V56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671
AA Change: V56D

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130187
Predicted Effect probably damaging
Transcript: ENSMUST00000131613
AA Change: V56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671
AA Change: V56D

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 201 2.3e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146808
AA Change: V56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120200
Gene: ENSMUSG00000046671
AA Change: V56D

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 225 1.5e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154769
AA Change: V56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671
AA Change: V56D

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 237 1.5e-84 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,789,860 (GRCm39) C367Y possibly damaging Het
AI182371 T A 2: 34,975,728 (GRCm39) I279L probably benign Het
Ambp A T 4: 63,061,934 (GRCm39) C332S probably damaging Het
App T C 16: 84,970,407 (GRCm39) T14A probably benign Het
Asap1 A T 15: 63,995,519 (GRCm39) probably null Het
Aurka T C 2: 172,201,778 (GRCm39) R242G probably benign Het
BC034090 G A 1: 155,093,217 (GRCm39) P747L probably damaging Het
Bcl6b T C 11: 70,119,918 (GRCm39) D23G probably damaging Het
Cabp2 A C 19: 4,134,154 (GRCm39) E42A possibly damaging Het
Ccdc14 G A 16: 34,542,173 (GRCm39) S557N probably benign Het
Ccdc146 G T 5: 21,524,604 (GRCm39) probably benign Het
Cenpf T A 1: 189,412,615 (GRCm39) Q216L probably damaging Het
Ces1b G A 8: 93,783,675 (GRCm39) P515L possibly damaging Het
Col6a5 A T 9: 105,755,829 (GRCm39) N2198K probably damaging Het
Csmd2 A G 4: 128,288,859 (GRCm39) S1133G possibly damaging Het
Cspg5 G A 9: 110,085,335 (GRCm39) R502H probably benign Het
Cyp2g1 A G 7: 26,514,229 (GRCm39) probably benign Het
Dnajc27 A G 12: 4,146,229 (GRCm39) Y86C probably damaging Het
Dnm1 T C 2: 32,202,783 (GRCm39) D715G probably damaging Het
Dock1 G T 7: 134,734,804 (GRCm39) L1317F possibly damaging Het
Fanci T A 7: 79,083,279 (GRCm39) Y727* probably null Het
Fbxw20 T A 9: 109,055,046 (GRCm39) T168S probably benign Het
Folh1 A T 7: 86,385,723 (GRCm39) probably benign Het
Gas7 A T 11: 67,573,557 (GRCm39) S379C probably damaging Het
Gbp2b A G 3: 142,309,987 (GRCm39) E259G probably benign Het
Gm8325 T C 3: 60,784,805 (GRCm39) noncoding transcript Het
Gpr75 A T 11: 30,841,730 (GRCm39) T212S probably benign Het
Itgb4 A G 11: 115,898,795 (GRCm39) T1711A probably damaging Het
Ly75 T C 2: 60,184,796 (GRCm39) S453G probably benign Het
Maneal A G 4: 124,754,276 (GRCm39) probably benign Het
Marco A T 1: 120,422,508 (GRCm39) I58N possibly damaging Het
Mtcl1 A G 17: 66,686,965 (GRCm39) I647T probably damaging Het
Npy1r G A 8: 67,156,954 (GRCm39) V125I probably damaging Het
Or1j19 C T 2: 36,676,557 (GRCm39) Q7* probably null Het
Or52n20 T C 7: 104,320,888 (GRCm39) probably benign Het
Or7g25 A G 9: 19,159,960 (GRCm39) L245P probably damaging Het
Osmr A T 15: 6,867,210 (GRCm39) L362* probably null Het
Pdlim2 T C 14: 70,411,906 (GRCm39) D42G probably damaging Het
Plcb4 T A 2: 135,842,100 (GRCm39) I89N possibly damaging Het
Prrc2b T A 2: 32,104,047 (GRCm39) M1175K probably benign Het
Pzp T A 6: 128,463,133 (GRCm39) N1423I probably benign Het
Retnla G A 16: 48,664,561 (GRCm39) C105Y probably damaging Het
Samd8 T A 14: 21,825,544 (GRCm39) S167T possibly damaging Het
Scg2 A G 1: 79,414,210 (GRCm39) M171T possibly damaging Het
Slc30a5 A G 13: 100,939,941 (GRCm39) V658A probably damaging Het
Slc41a2 T C 10: 83,152,455 (GRCm39) R7G possibly damaging Het
Slc44a2 A G 9: 21,258,338 (GRCm39) T500A probably damaging Het
Slc44a4 G T 17: 35,142,786 (GRCm39) G396V possibly damaging Het
Smarca5 A G 8: 81,446,199 (GRCm39) probably benign Het
St8sia6 T A 2: 13,798,156 (GRCm39) R34W probably damaging Het
Stk-ps2 T A 1: 46,069,337 (GRCm39) noncoding transcript Het
Stn1 T C 19: 47,502,329 (GRCm39) Y235C probably damaging Het
Tbx15 A G 3: 99,259,800 (GRCm39) Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 (GRCm39) probably null Het
Thsd7b G T 1: 129,523,508 (GRCm39) V181L probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Trpm4 T G 7: 44,976,422 (GRCm39) R51S probably damaging Het
Vmn1r91 A T 7: 19,835,671 (GRCm39) T197S probably damaging Het
Vmn2r-ps158 T C 7: 42,697,160 (GRCm39) I739T probably damaging Het
Xrn1 A G 9: 95,859,880 (GRCm39) D424G probably benign Het
Yap1 A G 9: 7,962,282 (GRCm39) probably null Het
Zer1 T C 2: 30,003,405 (GRCm39) D4G probably damaging Het
Zfp462 A T 4: 55,010,292 (GRCm39) I753F possibly damaging Het
Other mutations in Mtfr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Mtfr1l APN 4 134,256,511 (GRCm39) missense probably damaging 0.97
IGL01868:Mtfr1l APN 4 134,258,018 (GRCm39) missense probably null 1.00
IGL02218:Mtfr1l APN 4 134,256,491 (GRCm39) missense probably benign 0.39
IGL02454:Mtfr1l APN 4 134,257,696 (GRCm39) missense probably damaging 1.00
IGL03102:Mtfr1l APN 4 134,259,543 (GRCm39) missense probably damaging 0.99
R1183:Mtfr1l UTSW 4 134,256,436 (GRCm39) missense probably damaging 1.00
R4389:Mtfr1l UTSW 4 134,259,953 (GRCm39) utr 5 prime probably benign
R6620:Mtfr1l UTSW 4 134,256,394 (GRCm39) splice site probably null
R7363:Mtfr1l UTSW 4 134,256,577 (GRCm39) missense probably benign 0.09
R9517:Mtfr1l UTSW 4 134,256,515 (GRCm39) missense probably benign
R9790:Mtfr1l UTSW 4 134,258,063 (GRCm39) missense probably benign 0.00
R9791:Mtfr1l UTSW 4 134,258,063 (GRCm39) missense probably benign 0.00
Z1176:Mtfr1l UTSW 4 134,257,990 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16