Incidental Mutation 'IGL02250:Dnm1l'
ID 286370
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 # IGL02250
Quality Score
Status
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 16139550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 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 benign
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 noncoding transcript
Transcript: ENSMUST00000230958
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,329,135 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Areg T A 5: 91,288,967 (GRCm39) I91K possibly damaging Het
Arf1 G A 11: 59,103,993 (GRCm39) R79C probably benign Het
Bbs2 A T 8: 94,819,054 (GRCm39) I105N probably benign Het
Ccdc158 A T 5: 92,756,337 (GRCm39) I1090N probably damaging Het
Ccdc90b T A 7: 92,223,823 (GRCm39) probably benign Het
Cep57 A T 9: 13,721,939 (GRCm39) F221I probably damaging Het
Ckap5 C T 2: 91,379,246 (GRCm39) A62V probably damaging Het
Cntn5 G A 9: 10,145,336 (GRCm39) R125C probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxxc1 T A 18: 74,352,240 (GRCm39) D321E probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Eif2d T A 1: 131,088,166 (GRCm39) S184T probably benign Het
Emcn T A 3: 137,124,747 (GRCm39) probably benign Het
Fry A T 5: 150,326,899 (GRCm39) probably benign Het
Gas2 T A 7: 51,537,786 (GRCm39) M37K probably damaging Het
Habp2 A G 19: 56,297,361 (GRCm39) S100G probably benign Het
Kcnj5 A G 9: 32,229,052 (GRCm39) C49R probably damaging Het
Lhx2 T A 2: 38,244,845 (GRCm39) D236E probably benign Het
Megf8 T A 7: 25,042,000 (GRCm39) S1273T probably benign Het
Mrps2 T C 2: 28,359,557 (GRCm39) I138T possibly damaging Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Npat T A 9: 53,460,251 (GRCm39) Y66* probably null Het
Nup160 A G 2: 90,539,214 (GRCm39) R798G probably damaging Het
Or52n2c T C 7: 104,574,222 (GRCm39) I250V probably damaging Het
Or8b54 C A 9: 38,686,850 (GRCm39) Q100K probably damaging Het
Plxnc1 C T 10: 94,706,893 (GRCm39) G548E probably benign Het
Radil A G 5: 142,529,529 (GRCm39) S56P probably damaging Het
Rpgrip1l A T 8: 91,959,489 (GRCm39) M1137K probably benign Het
Serpina1c T G 12: 103,863,487 (GRCm39) M238L probably benign Het
Tbc1d14 A G 5: 36,728,863 (GRCm39) S168P probably damaging Het
Tmem209 A G 6: 30,487,387 (GRCm39) S498P probably damaging Het
Utrn A G 10: 12,312,135 (GRCm39) Y607H probably damaging Het
Vipr1 A G 9: 121,494,255 (GRCm39) I279V probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Xirp2 C T 2: 67,344,356 (GRCm39) T2199I probably benign Het
Zfp423 A G 8: 88,509,883 (GRCm39) S86P probably damaging Het
Zfp831 A G 2: 174,489,994 (GRCm39) K1254E possibly damaging Het
Zfp873 T A 10: 81,894,252 (GRCm39) M1K 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
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
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