Incidental Mutation 'IGL03388:Dnm1l'
ID420966
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 #IGL03388
Quality Score
Status
Chromosome16
Chromosomal Location16312230-16358959 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 16314052 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000059955] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000159683] [ENSMUST00000230022] [ENSMUST00000230980]
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: ENSMUST00000059955
SMART Domains Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 370 5.9e-74 PFAM
Blast:S4 403 466 1e-10 BLAST
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: ENSMUST00000159683
SMART Domains Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Hspb7 A G 4: 141,424,045 E166G probably damaging Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgals9 T A 11: 78,963,421 I346F probably damaging Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Nxf7 T C X: 135,584,740 K440E probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Ppp1r12c A G 7: 4,482,070 probably benign Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Sox13 A T 1: 133,388,948 L207H probably damaging Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Dnm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Dnm1l APN 16 16333827 critical splice donor site probably null
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
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 On2016-08-02