Incidental Mutation 'IGL01694:Dnm1l'
ID 104216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01694
Quality Score
Status
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16134515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 463 (I463N)
Ref Sequence ENSEMBL: ENSMUSP00000111415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023477
AA Change: I575N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: I575N

DomainStartEndE-ValueType
DYNc 1 255 9.83e-124 SMART
low complexity region 556 571 N/A INTRINSIC
GED 602 693 2.52e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096229
AA Change: I588N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: I588N

DomainStartEndE-ValueType
DYNc 1 268 1.75e-120 SMART
low complexity region 569 584 N/A INTRINSIC
GED 615 706 2.52e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115749
AA Change: I463N

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: I463N

DomainStartEndE-ValueType
DYNc 1 261 2.08e-122 SMART
low complexity region 573 588 N/A INTRINSIC
GED 619 710 2.52e-45 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230022
AA Change: I488N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230958
Predicted Effect probably benign
Transcript: ENSMUST00000230980
AA Change: I592N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the dynamin family. The encoded protein is localized to the cytoplasm and mitochondrial membrane, is involved in mitochondrial and peroxisomal division, and is essential for mitochondrial fission. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,818,659 (GRCm39) *219W probably null Het
Abi1 G A 2: 22,850,725 (GRCm39) T238M probably damaging Het
Agbl2 C T 2: 90,631,418 (GRCm39) L259F probably damaging Het
Cacna1g T A 11: 94,319,938 (GRCm39) I1413F probably damaging Het
Ddx21 T A 10: 62,434,430 (GRCm39) K110* probably null Het
Dst C A 1: 34,227,241 (GRCm39) H1286Q probably benign Het
Elmo2 A T 2: 165,156,693 (GRCm39) N67K probably benign Het
Eps8l3 G A 3: 107,799,624 (GRCm39) C578Y probably damaging Het
Fam83b T A 9: 76,398,272 (GRCm39) I944F probably benign Het
Itga10 A T 3: 96,559,833 (GRCm39) D496V probably damaging Het
Lama2 T G 10: 26,882,738 (GRCm39) K2608N possibly damaging Het
Lap3 T A 5: 45,655,937 (GRCm39) probably null Het
Madd T C 2: 90,988,320 (GRCm39) probably benign Het
Mdh1b T A 1: 63,750,265 (GRCm39) probably benign Het
Ncapg2 G A 12: 116,370,850 (GRCm39) probably benign Het
Opalin A G 19: 41,052,239 (GRCm39) probably benign Het
Or4e2 A G 14: 52,688,041 (GRCm39) N57S probably benign Het
Plxna3 T A X: 73,382,114 (GRCm39) D1291E probably damaging Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Rpl5 T C 5: 108,055,106 (GRCm39) Y253H probably benign Het
Sephs2 A G 7: 126,872,259 (GRCm39) I278T probably benign Het
Slc25a34 G A 4: 141,349,564 (GRCm39) A197V probably benign Het
Slco6d1 C T 1: 98,427,570 (GRCm39) R634W probably damaging Het
Smarca4 C A 9: 21,577,166 (GRCm39) A871D probably damaging Het
Speer2 C T 16: 69,655,000 (GRCm39) S155N probably damaging Het
Speer2 T A 16: 69,655,001 (GRCm39) S155C probably damaging Het
Spink12 T A 18: 44,240,827 (GRCm39) V71E probably damaging Het
Tecta T C 9: 42,278,475 (GRCm39) D1011G possibly damaging Het
Tmtc4 G A 14: 123,210,624 (GRCm39) T78I possibly damaging Het
Tub T C 7: 108,620,243 (GRCm39) probably benign Het
Vps13c T A 9: 67,802,631 (GRCm39) V644D probably damaging Het
Zfp7 C T 15: 76,774,995 (GRCm39) Q346* probably null Het
Other mutations in Dnm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Dnm1l APN 16 16,151,691 (GRCm39) critical splice donor site probably null
IGL00696:Dnm1l APN 16 16,160,579 (GRCm39) missense probably benign
IGL01146:Dnm1l APN 16 16,132,189 (GRCm39) missense probably benign 0.01
IGL01385:Dnm1l APN 16 16,159,317 (GRCm39) missense probably damaging 1.00
IGL02250:Dnm1l APN 16 16,139,550 (GRCm39) splice site probably benign
IGL02335:Dnm1l APN 16 16,160,604 (GRCm39) intron probably benign
IGL02345:Dnm1l APN 16 16,147,758 (GRCm39) missense possibly damaging 0.61
IGL02403:Dnm1l APN 16 16,154,840 (GRCm39) missense possibly damaging 0.78
IGL02684:Dnm1l APN 16 16,139,521 (GRCm39) missense possibly damaging 0.95
IGL02869:Dnm1l APN 16 16,159,288 (GRCm39) nonsense probably null
IGL03388:Dnm1l APN 16 16,131,916 (GRCm39) splice site probably benign
welter UTSW 16 16,139,510 (GRCm39) missense probably damaging 1.00
R0068:Dnm1l UTSW 16 16,141,883 (GRCm39) missense probably damaging 1.00
R0068:Dnm1l UTSW 16 16,141,883 (GRCm39) missense probably damaging 1.00
R1259:Dnm1l UTSW 16 16,141,870 (GRCm39) missense possibly damaging 0.67
R1554:Dnm1l UTSW 16 16,159,290 (GRCm39) missense probably benign 0.13
R1756:Dnm1l UTSW 16 16,160,559 (GRCm39) critical splice donor site probably null
R1913:Dnm1l UTSW 16 16,147,830 (GRCm39) missense probably benign 0.45
R2906:Dnm1l UTSW 16 16,132,175 (GRCm39) missense probably damaging 0.96
R2907:Dnm1l UTSW 16 16,132,175 (GRCm39) missense probably damaging 0.96
R3756:Dnm1l UTSW 16 16,139,476 (GRCm39) missense possibly damaging 0.86
R4226:Dnm1l UTSW 16 16,132,251 (GRCm39) missense possibly damaging 0.80
R4414:Dnm1l UTSW 16 16,160,559 (GRCm39) critical splice donor site probably null
R5287:Dnm1l UTSW 16 16,151,732 (GRCm39) missense probably damaging 1.00
R5574:Dnm1l UTSW 16 16,147,685 (GRCm39) missense probably damaging 1.00
R5653:Dnm1l UTSW 16 16,137,353 (GRCm39) missense probably damaging 1.00
R6113:Dnm1l UTSW 16 16,158,867 (GRCm39) missense probably benign 0.00
R6320:Dnm1l UTSW 16 16,149,952 (GRCm39) missense probably damaging 1.00
R6644:Dnm1l UTSW 16 16,147,737 (GRCm39) missense probably benign 0.14
R6995:Dnm1l UTSW 16 16,147,671 (GRCm39) nonsense probably null
R7309:Dnm1l UTSW 16 16,139,510 (GRCm39) missense probably damaging 1.00
R7422:Dnm1l UTSW 16 16,136,338 (GRCm39) missense probably benign
R8399:Dnm1l UTSW 16 16,139,536 (GRCm39) missense probably damaging 0.98
R8444:Dnm1l UTSW 16 16,158,906 (GRCm39) missense probably damaging 1.00
R8536:Dnm1l UTSW 16 16,176,639 (GRCm39) missense probably benign 0.00
R9151:Dnm1l UTSW 16 16,176,668 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21