Incidental Mutation 'R5653:Dnm1l'
ID 442133
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 043299-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5653 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16137353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 422 (L422P)
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: L520P

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: L520P

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: L533P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: L533P

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: L371P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: L371P

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 damaging
Transcript: ENSMUST00000230022
AA Change: L422P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230958
Predicted Effect probably benign
Transcript: ENSMUST00000230980
AA Change: L526P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 T C 5: 36,040,756 (GRCm39) L663P probably damaging Het
Atp10d A T 5: 72,421,410 (GRCm39) Q682L probably benign Het
Atp8b1 A G 18: 64,678,268 (GRCm39) V876A probably damaging Het
Bard1 A T 1: 71,070,588 (GRCm39) V632E probably benign Het
Baz1b A T 5: 135,237,951 (GRCm39) E209V probably benign Het
Bmp1 T A 14: 70,727,534 (GRCm39) Y683F probably benign Het
Cacnb1 A T 11: 97,900,105 (GRCm39) probably null Het
Capza2 G A 6: 17,654,112 (GRCm39) A55T probably damaging Het
Cc2d2a A G 5: 43,879,804 (GRCm39) N1127S possibly damaging Het
Ccdc13 A G 9: 121,627,853 (GRCm39) *255R probably null Het
Ddias G T 7: 92,507,937 (GRCm39) N659K probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dnah9 T C 11: 65,740,806 (GRCm39) T4127A probably damaging Het
Dnajc10 T A 2: 80,179,712 (GRCm39) Y749N probably damaging Het
Edil3 A T 13: 89,279,931 (GRCm39) N203I probably damaging Het
Egfr C T 11: 16,861,617 (GRCm39) A1132V probably benign Het
Entpd7 C T 19: 43,679,596 (GRCm39) R50* probably null Het
Fat2 T C 11: 55,201,142 (GRCm39) D644G probably damaging Het
Fhip1a A T 3: 85,629,808 (GRCm39) L40Q probably damaging Het
Galnt11 T A 5: 25,453,856 (GRCm39) D27E probably damaging Het
Gm10801 T A 2: 98,494,396 (GRCm39) F158I probably damaging Het
Gm37240 A G 3: 84,405,102 (GRCm39) F234L probably damaging Het
Gtf2ird1 A T 5: 134,439,821 (GRCm39) F136L probably damaging Het
Hspa1l T C 17: 35,196,396 (GRCm39) V145A probably damaging Het
Ice2 A G 9: 69,335,662 (GRCm39) T882A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat6b A G 14: 21,719,440 (GRCm39) N1264S probably benign Het
Kcnq4 C A 4: 120,559,608 (GRCm39) V531L probably benign Het
Kif9 A T 9: 110,353,999 (GRCm39) K790N probably damaging Het
Lipe T A 7: 25,097,833 (GRCm39) I37L probably benign Het
Lrrc43 A G 5: 123,637,643 (GRCm39) D270G probably damaging Het
Mon2 A G 10: 122,861,999 (GRCm39) Y782H probably damaging Het
Mrpl52 T C 14: 54,664,686 (GRCm39) S49P probably damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or2h15 T A 17: 38,442,075 (GRCm39) T3S possibly damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or5p56 A T 7: 107,589,592 (GRCm39) T7S probably benign Het
Pcbp2 C T 15: 102,395,524 (GRCm39) A141V probably damaging Het
Pcsk9 T A 4: 106,316,113 (GRCm39) Y110F probably damaging Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Polq T A 16: 36,860,896 (GRCm39) L506Q probably damaging Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prx C T 7: 27,217,029 (GRCm39) P510L probably damaging Het
Ptpre T C 7: 135,255,672 (GRCm39) F54L probably damaging Het
Rspry1 T G 8: 95,363,239 (GRCm39) probably null Het
Tnfrsf11b A T 15: 54,123,262 (GRCm39) L113Q probably damaging Het
Tnk1 C T 11: 69,744,411 (GRCm39) G411S probably damaging Het
Tor3a A G 1: 156,484,080 (GRCm39) L290S probably damaging Het
Tril T C 6: 53,794,970 (GRCm39) T751A probably benign Het
Tubgcp6 C T 15: 88,992,815 (GRCm39) V547I possibly damaging Het
Txnrd3 T C 6: 89,631,067 (GRCm39) L121P probably benign Het
Vmn1r210 T A 13: 23,011,378 (GRCm39) R303* probably null Het
Vmn2r38 T C 7: 9,100,764 (GRCm39) M1V 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
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
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
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'- TGACACTTAAAAGCCACCTTTC -3'
(R):5'- GTATATCCCTTAGCAGATGTGTTTG -3'

Sequencing Primer
(F):5'- GAAATAAACCCAAGTGAGGC -3'
(R):5'- CAAACATAGGGAAGCATTAGGTTTC -3'
Posted On 2016-11-09