Incidental Mutation 'IGL02684:Dnm1l'
ID 303474
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 # IGL02684
Quality Score
Status
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16139521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 391 (I391N)
Ref Sequence ENSEMBL: ENSMUSP00000155429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023477
AA Change: I489N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: I489N

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: I502N

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: I502N

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: I340N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: I340N

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: I391N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230958
Predicted Effect possibly damaging
Transcript: ENSMUST00000230980
AA Change: I495N

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
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
4930596D02Rik A T 14: 35,532,020 (GRCm39) L185* probably null Het
Aadacl4fm5 A G 4: 144,504,755 (GRCm39) probably benign Het
Actrt3 A T 3: 30,653,840 (GRCm39) D53E probably benign Het
Ankrd34b T C 13: 92,575,016 (GRCm39) S83P probably damaging Het
Asap1 A G 15: 63,966,018 (GRCm39) V1029A probably benign Het
Blk T C 14: 63,617,143 (GRCm39) E288G probably benign Het
Cep192 T G 18: 67,967,634 (GRCm39) V706G probably damaging Het
Chd2 T C 7: 73,125,097 (GRCm39) K908E probably damaging Het
Fmn1 A G 2: 113,355,622 (GRCm39) R688G unknown Het
Gdap2 A G 3: 100,078,336 (GRCm39) D100G probably benign Het
Gm43638 T C 5: 87,610,769 (GRCm39) I522V possibly damaging Het
Gsap A T 5: 21,447,801 (GRCm39) probably null Het
Hoxd12 A G 2: 74,505,905 (GRCm39) S159G probably benign Het
Ints7 A G 1: 191,345,749 (GRCm39) probably null Het
Iqsec3 G A 6: 121,389,900 (GRCm39) Q524* probably null Het
Klra10 T A 6: 130,258,845 (GRCm39) H14L possibly damaging Het
Lratd1 T C 12: 14,200,646 (GRCm39) D27G probably damaging Het
Mettl15 T C 2: 108,961,925 (GRCm39) E228G probably damaging Het
Or51v8 T C 7: 103,319,591 (GRCm39) M216V probably benign Het
Or9s18 G A 13: 65,300,210 (GRCm39) M57I probably damaging Het
Pabpc1l A G 2: 163,873,197 (GRCm39) N156D probably benign Het
Pkhd1l1 G T 15: 44,379,605 (GRCm39) probably null Het
Pm20d1 T A 1: 131,732,697 (GRCm39) N345K probably benign Het
Rasgrp1 A G 2: 117,113,057 (GRCm39) V785A probably benign Het
Sos2 A G 12: 69,643,440 (GRCm39) L980S probably damaging Het
Stam2 A T 2: 52,609,947 (GRCm39) H56Q probably damaging Het
Trpm6 T A 19: 18,779,571 (GRCm39) probably benign Het
Trpm7 A T 2: 126,688,079 (GRCm39) D249E probably damaging Het
Vmn1r203 A T 13: 22,708,539 (GRCm39) T107S possibly damaging Het
Vmn2r55 A G 7: 12,404,887 (GRCm39) L172P probably damaging Het
Vrtn A G 12: 84,696,923 (GRCm39) R558G probably benign Het
Zfp977 A T 7: 42,232,439 (GRCm39) D7E 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
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
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