Incidental Mutation 'R8399:Dnm1l'
ID 647789
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 067762-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16139536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 484 (H484L)
Ref Sequence ENSEMBL: ENSMUSP00000023477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023477
AA Change: H484L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: H484L

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 possibly damaging
Transcript: ENSMUST00000096229
AA Change: H497L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: H497L

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
AA Change: H335L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: H335L

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: H386L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230980
AA Change: H490L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,637,289 (GRCm39) V3384D possibly damaging Het
Apba3 C A 10: 81,104,832 (GRCm39) T35N probably benign Het
Bcl6 T C 16: 23,791,698 (GRCm39) M219V probably benign Het
Bco2 T A 9: 50,452,418 (GRCm39) T217S probably benign Het
C1s1 C T 6: 124,512,252 (GRCm39) V277I probably benign Het
Ccdc162 T A 10: 41,415,517 (GRCm39) R2149W probably damaging Het
Cers6 T C 2: 68,692,115 (GRCm39) F46L probably benign Het
Chpf T C 1: 75,452,864 (GRCm39) I359V probably benign Het
Chrnb4 A C 9: 54,951,107 (GRCm39) L52R probably benign Het
Cox6a1 T C 5: 115,483,958 (GRCm39) T95A probably damaging Het
Def8 T A 8: 124,182,238 (GRCm39) Y197* probably null Het
Dmbt1 C G 7: 130,684,317 (GRCm39) D778E unknown Het
Dnaaf3 C T 7: 4,526,936 (GRCm39) probably null Het
Eml1 G A 12: 108,504,390 (GRCm39) S783N possibly damaging Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Hck A C 2: 152,980,237 (GRCm39) K355N probably damaging Het
Hexim2 G T 11: 103,029,329 (GRCm39) R127L probably damaging Het
Hivep2 T C 10: 14,008,178 (GRCm39) L1592P possibly damaging Het
Htr1d G A 4: 136,170,686 (GRCm39) G305E probably damaging Het
Ifi207 G A 1: 173,557,844 (GRCm39) S298L unknown Het
Ighv1-11 A G 12: 114,576,047 (GRCm39) V56A possibly damaging Het
Ighv7-1 G A 12: 113,860,532 (GRCm39) T12I unknown Het
Kctd14 T C 7: 97,106,811 (GRCm39) L22P probably damaging Het
Klra17 T C 6: 129,851,900 (GRCm39) probably benign Het
Kndc1 C T 7: 139,493,434 (GRCm39) R467W probably damaging Het
Maf T A 8: 116,433,251 (GRCm39) I118F unknown Het
Mppe1 T C 18: 67,358,946 (GRCm39) T341A probably benign Het
Mtmr2 T A 9: 13,703,363 (GRCm39) V186E probably benign Het
Nedd9 G T 13: 41,471,950 (GRCm39) Y176* probably null Het
Omd A G 13: 49,743,345 (GRCm39) I132V possibly damaging Het
Or12e10 A C 2: 87,640,568 (GRCm39) M135L probably damaging Het
Or4a39 T C 2: 89,237,028 (GRCm39) T132A probably benign Het
Pcnx4 T A 12: 72,620,985 (GRCm39) M935K probably benign Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Plcg2 T C 8: 118,323,101 (GRCm39) Y719H probably damaging Het
Plk4 C T 3: 40,763,265 (GRCm39) R479* probably null Het
Pms1 T A 1: 53,307,091 (GRCm39) probably null Het
Raph1 C T 1: 60,528,477 (GRCm39) S928N unknown Het
Rtp4 G T 16: 23,339,164 (GRCm39) probably benign Het
Skor1 C T 9: 63,052,440 (GRCm39) V510I possibly damaging Het
Smg1 T C 7: 117,789,794 (GRCm39) T699A unknown Het
Tcp11l1 T C 2: 104,515,720 (GRCm39) D381G probably benign Het
Tnik T A 3: 28,548,159 (GRCm39) M56K unknown Het
Trappc9 G A 15: 72,924,131 (GRCm39) R204C probably damaging Het
Trmt10b A T 4: 45,305,870 (GRCm39) M184L possibly damaging Het
Vmn1r224 T A 17: 20,640,011 (GRCm39) I196N probably damaging Het
Vmn1r49 A T 6: 90,049,689 (GRCm39) C104* probably null Het
Vmn2r35 A C 7: 7,819,897 (GRCm39) S124R probably benign Het
Wdr62 T C 7: 29,957,486 (GRCm39) E547G probably damaging Het
Zfp68 A T 5: 138,606,082 (GRCm39) D80E 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
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
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'- GGCATACAACCAGCAGTAATATG -3'
(R):5'- TCCTAACTACCTCAGGCTTAAATAC -3'

Sequencing Primer
(F):5'- GCAGTAATATGCCACATCTCTTG -3'
(R):5'- GACTTCTCAGGGTTAGGTTAG -3'
Posted On 2020-09-02