Incidental Mutation 'IGL02335:Dnm1l'
ID 289714
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 # IGL02335
Quality Score
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 16160604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230038] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023477
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789

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
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789

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
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789

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
Predicted Effect probably benign
Transcript: ENSMUST00000230038
Predicted Effect probably benign
Transcript: ENSMUST00000230980
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,502,266 (GRCm39) T142I probably benign Het
Aadacl2fm2 G A 3: 59,651,026 (GRCm39) M49I probably benign Het
Acaca A G 11: 84,105,084 (GRCm39) T147A possibly damaging Het
Agbl3 A G 6: 34,776,685 (GRCm39) D397G probably damaging Het
Ank1 C T 8: 23,625,654 (GRCm39) T1597M possibly damaging Het
Arl4d A G 11: 101,557,755 (GRCm39) T94A possibly damaging Het
Cd22 A G 7: 30,575,559 (GRCm39) I161T probably damaging Het
Clcn7 C T 17: 25,365,821 (GRCm39) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Col14a1 A T 15: 55,327,165 (GRCm39) probably benign Het
Col6a6 C T 9: 105,661,300 (GRCm39) V270M probably damaging Het
Cox8b C A 7: 140,478,990 (GRCm39) G42W probably damaging Het
Csn1s1 A T 5: 87,828,704 (GRCm39) D275V probably benign Het
Cubn T A 2: 13,432,645 (GRCm39) probably null Het
Dctn2 T C 10: 127,111,690 (GRCm39) probably benign Het
Dpp4 T C 2: 62,164,988 (GRCm39) E687G probably benign Het
Fbxw20 T C 9: 109,052,377 (GRCm39) K249E possibly damaging Het
Fhl2 C T 1: 43,167,550 (GRCm39) W181* probably null Het
G2e3 T A 12: 51,415,941 (GRCm39) M559K probably benign Het
Gdap1l1 A T 2: 163,289,515 (GRCm39) Y160F possibly damaging Het
Gm1110 T C 9: 26,793,059 (GRCm39) I572M probably benign Het
Gpatch2l T A 12: 86,303,711 (GRCm39) probably benign Het
Kcnq4 A G 4: 120,573,051 (GRCm39) L250P probably damaging Het
Lamc2 A T 1: 153,041,962 (GRCm39) N57K probably benign Het
Lingo1 A G 9: 56,527,365 (GRCm39) L408P probably damaging Het
Mmrn1 A T 6: 60,954,131 (GRCm39) N804I possibly damaging Het
Mroh7 A G 4: 106,564,979 (GRCm39) L545S probably damaging Het
Nup188 T A 2: 30,213,648 (GRCm39) probably null Het
Or10q1 A G 19: 13,727,298 (GRCm39) D276G probably benign Het
Or11a4 A G 17: 37,536,217 (GRCm39) N67S probably damaging Het
Or5b94 T C 19: 12,651,602 (GRCm39) I11T probably damaging Het
Pls1 A T 9: 95,666,236 (GRCm39) N138K probably benign Het
Prkch C A 12: 73,749,286 (GRCm39) N345K probably benign Het
Reps1 T C 10: 17,931,865 (GRCm39) probably null Het
Rrp7a T C 15: 83,006,892 (GRCm39) E15G probably benign Het
Scart2 A T 7: 139,876,453 (GRCm39) N526Y probably damaging Het
Scn1a T A 2: 66,108,005 (GRCm39) T1557S possibly damaging Het
Smtn T C 11: 3,476,215 (GRCm39) E602G probably damaging Het
Syvn1 T C 19: 6,100,123 (GRCm39) probably null Het
Tbxas1 A G 6: 39,000,014 (GRCm39) D267G probably damaging Het
Topbp1 A G 9: 103,205,722 (GRCm39) N787D probably damaging Het
Vmn2r22 T G 6: 123,615,051 (GRCm39) S180R probably damaging Het
Zfp345 T A 2: 150,316,463 (GRCm39) E48D possibly damaging Het
Zfp608 G A 18: 55,030,509 (GRCm39) Q1144* probably null Het
Zfp936 T A 7: 42,836,691 (GRCm39) L34Q 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
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 2015-04-16