Incidental Mutation 'IGL02345:Dnm1l'
ID 289255
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 # IGL02345
Quality Score
Status
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16147758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 181 (S181G)
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: S330G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: S330G

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: S343G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: S343G

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 possibly damaging
Transcript: ENSMUST00000115749
AA Change: S181G

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: S181G

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 possibly damaging
Transcript: ENSMUST00000230022
AA Change: S232G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000230980
AA Change: S336G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
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
Abcc1 G T 16: 14,214,215 (GRCm39) D177Y possibly damaging Het
Casc3 T C 11: 98,718,390 (GRCm39) probably benign Het
Catspere2 G A 1: 177,842,754 (GRCm39) V60I possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Dcun1d4 A G 5: 73,668,495 (GRCm39) D41G probably damaging Het
Dyrk1a T G 16: 94,472,221 (GRCm39) S242A possibly damaging Het
Fcgbp T A 7: 27,771,068 (GRCm39) probably benign Het
Fibcd1 T C 2: 31,706,604 (GRCm39) Y409C probably damaging Het
Fig4 A T 10: 41,143,770 (GRCm39) W230R probably null Het
Flt1 T C 5: 147,519,436 (GRCm39) S960G probably benign Het
Fyb1 A G 15: 6,649,143 (GRCm39) S390G possibly damaging Het
Gbx2 T C 1: 89,856,698 (GRCm39) T231A probably benign Het
Gm5852 T A 3: 93,635,055 (GRCm39) noncoding transcript Het
Lmo7 T C 14: 102,124,909 (GRCm39) V456A probably damaging Het
Mark3 A G 12: 111,593,541 (GRCm39) N191S probably damaging Het
Or7h8 C A 9: 20,124,314 (GRCm39) S223Y possibly damaging Het
Pik3c2a C T 7: 116,005,126 (GRCm39) E381K probably damaging Het
Pik3r5 A G 11: 68,383,552 (GRCm39) D457G probably benign Het
Plcg2 T C 8: 118,311,919 (GRCm39) S404P probably damaging Het
Prr16 T C 18: 51,436,301 (GRCm39) F260S probably damaging Het
Psd4 T C 2: 24,291,835 (GRCm39) probably null Het
Ptgs1 A G 2: 36,132,983 (GRCm39) D327G probably null Het
Rgsl1 C T 1: 153,679,755 (GRCm39) probably null Het
Spart T A 3: 55,025,147 (GRCm39) probably null Het
Sugp1 A G 8: 70,495,734 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Usp19 A G 9: 108,371,057 (GRCm39) T240A probably benign Het
Vash2 A G 1: 190,710,412 (GRCm39) V81A probably benign Het
Vmn2r41 T G 7: 8,141,767 (GRCm39) N566H probably damaging Het
Wdr31 A G 4: 62,377,083 (GRCm39) I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 (GRCm39) V1272I possibly damaging Het
Zfp638 C T 6: 83,961,857 (GRCm39) R1899C probably damaging 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
IGL01694:Dnm1l APN 16 16,134,515 (GRCm39) missense probably benign 0.08
IGL02250:Dnm1l APN 16 16,139,550 (GRCm39) splice site probably benign
IGL02335:Dnm1l APN 16 16,160,604 (GRCm39) intron probably benign
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 2015-04-16