Incidental Mutation 'R6644:Dnm1l'
ID 526039
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 044765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6644 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 16130094-16176823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16147737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 343 (I343V)
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
AA Change: I337V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: I337V

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
AA Change: I350V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: I350V

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: I188V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: I188V

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
AA Change: I239V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000230980
AA Change: I343V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C T 10: 79,844,598 (GRCm39) P1461L probably damaging Het
Abhd14a T C 9: 106,321,472 (GRCm39) Y10C probably damaging Het
Adcy2 C T 13: 68,816,671 (GRCm39) V772M possibly damaging Het
Apob A G 12: 8,059,077 (GRCm39) M2487V probably damaging Het
B4galnt1 T C 10: 127,007,662 (GRCm39) probably null Het
Cabp7 C T 11: 4,690,396 (GRCm39) V76I probably benign Het
Cbr3 A G 16: 93,487,399 (GRCm39) Y194C probably damaging Het
Cdk18 G A 1: 132,049,807 (GRCm39) Q58* probably null Het
Cryba4 T C 5: 112,394,628 (GRCm39) D167G probably damaging Het
Czib T G 4: 107,752,119 (GRCm39) I130S probably damaging Het
Dner T C 1: 84,373,428 (GRCm39) N588S probably damaging Het
Eif1ad16 A G 12: 87,985,460 (GRCm39) F28L probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxw17 G A 13: 50,577,255 (GRCm39) R49Q probably damaging Het
Garin2 T A 12: 78,762,060 (GRCm39) D241E probably damaging Het
Gm10332 T A 14: 55,057,616 (GRCm39) F59I probably damaging Het
Gnai3 A G 3: 108,030,852 (GRCm39) probably null Het
Helz T A 11: 107,523,087 (GRCm39) M75K possibly damaging Het
Hnrnph3 C T 10: 62,854,672 (GRCm39) probably benign Het
Ifi211 C T 1: 173,733,118 (GRCm39) C181Y probably benign Het
Immp1l A G 2: 105,767,390 (GRCm39) K83R probably damaging Het
Itga6 G A 2: 71,671,468 (GRCm39) G740R probably damaging Het
Klhl1 T C 14: 96,755,354 (GRCm39) T134A probably benign Het
Klhl7 A G 5: 24,354,244 (GRCm39) D353G probably damaging Het
Map3k1 A G 13: 111,888,983 (GRCm39) S1325P probably benign Het
Map3k4 A G 17: 12,451,297 (GRCm39) probably null Het
Meioc G A 11: 102,559,286 (GRCm39) probably null Het
Mfap5 T C 6: 122,497,555 (GRCm39) F26L probably damaging Het
Myo5a A G 9: 75,054,249 (GRCm39) T386A probably damaging Het
Npc1l1 A T 11: 6,164,013 (GRCm39) L1266Q probably damaging Het
Npc1l1 G T 11: 6,164,014 (GRCm39) L1266M probably damaging Het
Or4c116 A G 2: 88,942,325 (GRCm39) M177T probably benign Het
Or51aa2 C A 7: 103,188,265 (GRCm39) V59F possibly damaging Het
Pbld1 T A 10: 62,910,842 (GRCm39) S233T probably damaging Het
Phf12 A G 11: 77,916,918 (GRCm39) *789W probably null Het
Sf3b2 A T 19: 5,329,992 (GRCm39) probably null Het
Slc23a3 A G 1: 75,105,191 (GRCm39) I459T probably damaging Het
Spata31e4 A G 13: 50,856,071 (GRCm39) T570A possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stard9 A C 2: 120,526,253 (GRCm39) M837L probably benign Het
Stx5a A T 19: 8,732,612 (GRCm39) probably benign Het
Tmc7 A G 7: 118,137,385 (GRCm39) V719A probably benign Het
Trank1 T A 9: 111,193,902 (GRCm39) I642K possibly damaging Het
Trim34a T C 7: 103,910,244 (GRCm39) Y349H probably damaging Het
Uba7 A G 9: 107,858,671 (GRCm39) Y834C possibly damaging Het
Ube2d1 A G 10: 71,092,530 (GRCm39) S105P possibly damaging Het
Vps13a A G 19: 16,722,283 (GRCm39) V343A possibly damaging Het
Zbtb37 G A 1: 160,859,643 (GRCm39) Q221* probably null Het
Zfp119b T C 17: 56,246,148 (GRCm39) N346S probably benign Het
Zfp708 G T 13: 67,218,785 (GRCm39) T358K possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ATGACACAATACTCCTCCTATCATT -3'
(R):5'- CGGACATGTTGAAGATCTGAGTACT -3'

Sequencing Primer
(F):5'- GATTCTTATAATCCAAGCAACCA -3'
(R):5'- GATCTGAGTACTAGAAGATTTGCCC -3'
Posted On 2018-06-22