Incidental Mutation 'R4414:Dnm1l'
ID 328081
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 16160559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093945 (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

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 null
Transcript: ENSMUST00000096229
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789

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
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789

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
Predicted Effect probably benign
Transcript: ENSMUST00000230038
Predicted Effect probably benign
Transcript: ENSMUST00000230980
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,406,690 (GRCm39) M120L probably benign Het
Aco2 A G 15: 81,773,584 (GRCm39) probably null Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
AU041133 C T 10: 81,987,316 (GRCm39) T323M probably damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Vegfc A T 8: 54,634,130 (GRCm39) N270Y probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGGGGTATTTTAACTTAGTTGGCC -3'
(R):5'- AGGCTTTCAAATATCTCAGGCAAAC -3'

Sequencing Primer
(F):5'- TTCTACCACCAAAAAGGCTTGCATG -3'
(R):5'- AGTTGAAGCATCACACACAATG -3'
Posted On 2015-07-07