Incidental Mutation 'R6995:Dnm1l'
ID 544165
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 045101-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 16147671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 365 (E365*)
Ref Sequence ENSEMBL: ENSMUSP00000155155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023477
AA Change: E359*
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: E359*

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
AA Change: E372*
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: E372*

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 null
Transcript: ENSMUST00000115749
AA Change: E210*
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: E210*

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 null
Transcript: ENSMUST00000230022
AA Change: E261*
Predicted Effect probably null
Transcript: ENSMUST00000230980
AA Change: E365*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,644,149 (GRCm39) Y606C probably benign Het
Acad9 A G 3: 36,139,630 (GRCm39) Y410C probably damaging Het
Acot6 C T 12: 84,156,149 (GRCm39) P366S probably damaging Het
Adrm1b T C 3: 92,336,315 (GRCm39) probably benign Het
Anks1 G T 17: 28,273,273 (GRCm39) G964V probably damaging Het
Apol7a A T 15: 77,274,176 (GRCm39) probably benign Het
Arid3c G A 4: 41,725,087 (GRCm39) A320V probably damaging Het
Bnip3l A T 14: 67,237,101 (GRCm39) N50K probably benign Het
C1qtnf4 C A 2: 90,720,297 (GRCm39) A190D probably benign Het
Calhm5 A T 10: 33,972,189 (GRCm39) M82K probably benign Het
Cdcp3 G T 7: 130,824,400 (GRCm39) W165L probably damaging Het
Cdh1 G T 8: 107,387,545 (GRCm39) V482L probably benign Het
Cdrt4 A C 11: 62,883,486 (GRCm39) I63L probably benign Het
Cic A T 7: 24,970,736 (GRCm39) T156S possibly damaging Het
Ckm A G 7: 19,154,156 (GRCm39) N301S probably benign Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Cop1 A G 1: 159,134,154 (GRCm39) D132G probably damaging Het
Cpd G T 11: 76,675,881 (GRCm39) N1257K probably benign Het
Cyp2c67 T C 19: 39,604,123 (GRCm39) H411R probably damaging Het
Cyp2r1 A T 7: 114,152,316 (GRCm39) F5I probably damaging Het
Dclk3 T A 9: 111,296,768 (GRCm39) L104Q possibly damaging Het
Dnah7c A T 1: 46,494,973 (GRCm39) Q67L probably benign Het
Dst A T 1: 34,205,315 (GRCm39) I502F probably damaging Het
Espl1 T C 15: 102,212,535 (GRCm39) V547A possibly damaging Het
Foxa1 C T 12: 57,589,264 (GRCm39) A319T probably benign Het
Frem1 G T 4: 82,904,838 (GRCm39) H859N probably damaging Het
Frem3 T A 8: 81,339,208 (GRCm39) D500E probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grip1 A G 10: 119,822,375 (GRCm39) D394G probably damaging Het
Gsap C A 5: 21,476,235 (GRCm39) T589K possibly damaging Het
Gsg1l A G 7: 125,522,658 (GRCm39) V190A probably damaging Het
Kcnmb1 A T 11: 33,920,131 (GRCm39) T115S probably benign Het
Kirrel2 A C 7: 30,154,604 (GRCm39) F169C probably damaging Het
L3mbtl1 C T 2: 162,803,368 (GRCm39) T397M probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrk1 T C 7: 65,942,090 (GRCm39) D716G probably damaging Het
Matn4 G A 2: 164,231,584 (GRCm39) R582* probably null Het
Mdn1 A T 4: 32,733,374 (GRCm39) R3133W probably benign Het
Mmp7 A G 9: 7,695,489 (GRCm39) D122G probably damaging Het
Naaladl1 A G 19: 6,165,578 (GRCm39) D744G possibly damaging Het
Nampt T G 12: 32,898,742 (GRCm39) Y453D probably benign Het
Nlrp12 A G 7: 3,288,481 (GRCm39) V677A probably benign Het
Ntng2 T C 2: 29,087,080 (GRCm39) N414S probably damaging Het
Or1e16 A G 11: 73,286,410 (GRCm39) V146A probably benign Het
Or4g17 A G 2: 111,209,708 (GRCm39) D121G probably damaging Het
Or5p52 A G 7: 107,502,829 (GRCm39) R302G probably benign Het
Or9m1b A C 2: 87,836,529 (GRCm39) F189V probably benign Het
Parp4 A C 14: 56,851,196 (GRCm39) Q733P probably damaging Het
Pdcl3 G A 1: 39,034,417 (GRCm39) V56I probably benign Het
Pepd A G 7: 34,721,144 (GRCm39) Y256C probably damaging Het
Plg G T 17: 12,637,938 (GRCm39) R788L probably benign Het
Plod1 A T 4: 148,000,675 (GRCm39) probably benign Het
Ptprc A G 1: 138,016,482 (GRCm39) V513A probably damaging Het
Pxdn T C 12: 30,045,370 (GRCm39) I373T possibly damaging Het
Qrfprl A T 6: 65,418,285 (GRCm39) K151I probably damaging Het
Rbbp8 G A 18: 11,851,965 (GRCm39) G262E probably damaging Het
Rfc2 T A 5: 134,623,104 (GRCm39) Y240* probably null Het
Rps15 A G 10: 80,129,598 (GRCm39) E71G possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr1 A C 7: 28,793,607 (GRCm39) M1287R probably damaging Het
Scart2 G A 7: 139,841,514 (GRCm39) D273N probably benign Het
Serpina9 A G 12: 103,967,495 (GRCm39) L300P probably damaging Het
Sh3rf2 G A 18: 42,234,606 (GRCm39) A130T probably damaging Het
Slc12a8 G A 16: 33,355,263 (GRCm39) W26* probably null Het
Snx18 A T 13: 113,731,265 (GRCm39) H576Q probably damaging Het
Tagln3 G A 16: 45,543,321 (GRCm39) T107I probably benign Het
Thap1 C A 8: 26,652,679 (GRCm39) T139K probably damaging Het
Tle4 T A 19: 14,541,817 (GRCm39) probably null Het
Tmem87a A T 2: 120,193,409 (GRCm39) M502K possibly damaging Het
Tpcn2 A T 7: 144,810,522 (GRCm39) V605E probably benign Het
Trgj1 C A 13: 19,394,529 (GRCm39) probably benign Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Ubap2l T C 3: 89,916,548 (GRCm39) T909A probably damaging Het
Ubl4b T G 3: 107,462,140 (GRCm39) Q40P probably damaging Het
Vmn1r229 A G 17: 21,035,277 (GRCm39) D174G probably damaging Het
Vmn2r50 A T 7: 9,779,964 (GRCm39) Y472* probably null Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vmn2r74 T A 7: 85,606,860 (GRCm39) probably null Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Zfp335 G A 2: 164,735,210 (GRCm39) Q1179* probably null Het
Zmynd12 A C 4: 119,310,772 (GRCm39) K327Q probably benign Het
Zwilch G A 9: 64,072,731 (GRCm39) Q27* 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
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
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'- CTGTAGCTAACTTTGCATGTGCT -3'
(R):5'- TTGTTTACCAGAGCTGAAAACAAG -3'

Sequencing Primer
(F):5'- TCATGAGTTTGAGGACAGCC -3'
(R):5'- CAAGAATAAATGTCTTAGCTGCTCAG -3'
Posted On 2019-05-13