Incidental Mutation 'IGL00675:Dnm1l'
ID10254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Namedynamin 1-like
Synonyms6330417M19Rik, python, Dnmlp1, Drp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00675
Quality Score
Status
Chromosome16
Chromosomal Location16312230-16358959 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 16333827 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230038] [ENSMUST00000230980]
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000230022
Predicted Effect probably benign
Transcript: ENSMUST00000230038
Predicted Effect probably null
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,304,985 D549E probably damaging Het
Abcc9 A G 6: 142,664,621 F606L probably damaging Het
Canx A G 11: 50,300,996 S363P possibly damaging Het
Cdh6 T C 15: 13,041,439 D513G possibly damaging Het
Cyp11a1 G T 9: 58,019,313 G111W probably damaging Het
Dsg1b T A 18: 20,391,918 L137* probably null Het
Kcnh5 A T 12: 75,114,189 probably null Het
Kcnu1 A G 8: 25,851,849 E74G probably benign Het
Nlrp9b T A 7: 20,023,186 I116K possibly damaging Het
Notch2 T C 3: 98,111,675 Y718H possibly damaging Het
Prkdc T C 16: 15,787,158 L2980P probably benign Het
Samm50 C T 15: 84,200,375 S171F possibly damaging Het
Saraf T A 8: 34,167,808 S288T probably benign Het
Ubr5 C T 15: 38,018,284 V865I possibly damaging Het
Uhrf1bp1 C T 17: 27,876,917 probably benign Het
Vnn3 G T 10: 23,867,168 K425N possibly damaging Het
Zswim8 T C 14: 20,716,901 probably benign Het
Other mutations in Dnm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00696:Dnm1l APN 16 16342715 missense probably benign
IGL01146:Dnm1l APN 16 16314325 missense probably benign 0.01
IGL01385:Dnm1l APN 16 16341453 missense probably damaging 1.00
IGL01694:Dnm1l APN 16 16316651 missense probably benign 0.08
IGL02250:Dnm1l APN 16 16321686 splice site probably benign
IGL02335:Dnm1l APN 16 16342740 intron probably benign
IGL02345:Dnm1l APN 16 16329894 missense possibly damaging 0.61
IGL02403:Dnm1l APN 16 16336976 missense possibly damaging 0.78
IGL02684:Dnm1l APN 16 16321657 missense possibly damaging 0.95
IGL02869:Dnm1l APN 16 16341424 nonsense probably null
IGL03388:Dnm1l APN 16 16314052 splice site probably benign
R0068:Dnm1l UTSW 16 16324019 missense probably damaging 1.00
R0068:Dnm1l UTSW 16 16324019 missense probably damaging 1.00
R1259:Dnm1l UTSW 16 16324006 missense possibly damaging 0.67
R1554:Dnm1l UTSW 16 16341426 missense probably benign 0.13
R1756:Dnm1l UTSW 16 16342695 critical splice donor site probably null
R1913:Dnm1l UTSW 16 16329966 missense probably benign 0.45
R2906:Dnm1l UTSW 16 16314311 missense probably damaging 0.96
R2907:Dnm1l UTSW 16 16314311 missense probably damaging 0.96
R3756:Dnm1l UTSW 16 16321612 missense possibly damaging 0.86
R4226:Dnm1l UTSW 16 16314387 missense possibly damaging 0.80
R4414:Dnm1l UTSW 16 16342695 critical splice donor site probably null
R5287:Dnm1l UTSW 16 16333868 missense probably damaging 1.00
R5574:Dnm1l UTSW 16 16329821 missense probably damaging 1.00
R5653:Dnm1l UTSW 16 16319489 missense probably damaging 1.00
R6113:Dnm1l UTSW 16 16341003 missense probably benign 0.00
R6320:Dnm1l UTSW 16 16332088 missense probably damaging 1.00
R6644:Dnm1l UTSW 16 16329873 missense probably benign 0.14
R6995:Dnm1l UTSW 16 16329807 nonsense probably null
R7309:Dnm1l UTSW 16 16321646 missense probably damaging 1.00
R7422:Dnm1l UTSW 16 16318474 missense probably benign
Posted On2012-12-06