Incidental Mutation 'R6113:Dnm1l'
ID 484980
Institutional Source Beutler Lab
Gene Symbol Dnm1l
Ensembl Gene ENSMUSG00000022789
Gene Name dynamin 1-like
Synonyms Drp1, python, 6330417M19Rik, Dnmlp1
MMRRC Submission 044262-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6113 (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 16158867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 121 (N121S)
Ref Sequence ENSEMBL: ENSMUSP00000155605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023477] [ENSMUST00000096229] [ENSMUST00000115749] [ENSMUST00000230022] [ENSMUST00000230038] [ENSMUST00000230980]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023477
AA Change: N121S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: N121S

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: N134S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: N134S

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
AA Change: N23S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000230038
AA Change: N121S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230980
AA Change: N127S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C A 16: 8,390,764 (GRCm39) T7N probably benign Het
Aldh1l2 G T 10: 83,343,998 (GRCm39) C359* probably null Het
Atpsckmt T C 15: 31,608,308 (GRCm39) Y120H probably damaging Het
Bpifb6 G A 2: 153,752,651 (GRCm39) E384K probably benign Het
Chtf18 G A 17: 25,941,841 (GRCm39) R544C probably damaging Het
Cilp2 T C 8: 70,335,009 (GRCm39) D663G probably benign Het
Cplx3 T A 9: 57,509,723 (GRCm39) I92F probably damaging Het
Cr1l T C 1: 194,813,719 (GRCm39) probably benign Het
Cyp1a1 T A 9: 57,609,174 (GRCm39) F323I probably damaging Het
Dclk1 T C 3: 55,397,240 (GRCm39) Y186H probably benign Het
Dclre1c T C 2: 3,453,900 (GRCm39) L261P probably damaging Het
Dcst2 T C 3: 89,275,192 (GRCm39) S312P possibly damaging Het
Dnah17 A G 11: 118,017,101 (GRCm39) L213P probably damaging Het
Dnd1 T A 18: 36,898,448 (GRCm39) Y102F probably damaging Het
Dsp T A 13: 38,376,023 (GRCm39) N1269K probably damaging Het
Dync1h1 T C 12: 110,586,848 (GRCm39) V943A probably benign Het
Eml5 T A 12: 98,790,933 (GRCm39) K1322* probably null Het
Fgf23 A G 6: 127,055,117 (GRCm39) T76A probably benign Het
Fgf6 T C 6: 126,992,900 (GRCm39) probably null Het
Fkbp15 G A 4: 62,258,884 (GRCm39) T124I probably benign Het
Gm12185 A T 11: 48,806,167 (GRCm39) H341Q possibly damaging Het
Gm20647 A G 5: 72,487,143 (GRCm39) probably benign Het
Lrp2 G C 2: 69,313,901 (GRCm39) R2277G possibly damaging Het
Lrrc69 T C 4: 14,708,673 (GRCm39) T224A probably benign Het
Ly75 T G 2: 60,199,217 (GRCm39) I175L probably benign Het
Morc2b G T 17: 33,357,042 (GRCm39) Y243* probably null Het
Myo18b C G 5: 113,014,251 (GRCm39) D764H probably damaging Het
Naip6 T C 13: 100,435,794 (GRCm39) S910G possibly damaging Het
Nbeal1 T A 1: 60,261,422 (GRCm39) I21N possibly damaging Het
P3h2 A T 16: 25,799,903 (GRCm39) I430K probably benign Het
Pcdh9 A G 14: 94,124,544 (GRCm39) V542A probably damaging Het
Pkp3 T A 7: 140,662,569 (GRCm39) N60K probably damaging Het
Pold1 C A 7: 44,187,124 (GRCm39) G686C probably damaging Het
Prdm6 T A 18: 53,606,673 (GRCm39) L58Q probably damaging Het
Rab13 C A 3: 90,132,173 (GRCm39) R86S probably benign Het
Rad21l A C 2: 151,499,398 (GRCm39) L265V probably damaging Het
Rec8 G A 14: 55,859,935 (GRCm39) A228T probably damaging Het
Rgs12 C A 5: 35,177,667 (GRCm39) R76S probably damaging Het
Sfmbt1 A G 14: 30,537,141 (GRCm39) N670D possibly damaging Het
Slc17a7 A G 7: 44,824,175 (GRCm39) T464A possibly damaging Het
Srcap C A 7: 127,159,453 (GRCm39) probably benign Het
Srgap2 A T 1: 131,283,243 (GRCm39) probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Thpo C A 16: 20,547,597 (GRCm39) probably benign Het
Tle4 A T 19: 14,572,952 (GRCm39) probably null Het
Tnfrsf14 T C 4: 155,008,949 (GRCm39) Q74R possibly damaging Het
Trav15-2-dv6-2 T G 14: 53,887,182 (GRCm39) V34G probably benign Het
Trbv13-1 C T 6: 41,093,313 (GRCm39) A82V probably benign Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Trpv3 G A 11: 73,176,844 (GRCm39) V408I probably benign Het
Tyk2 A T 9: 21,019,218 (GRCm39) V1068E probably damaging Het
Usp35 A G 7: 96,973,533 (GRCm39) S230P probably damaging Het
Utp25 T C 1: 192,811,810 (GRCm39) I46V probably null Het
Vav1 T A 17: 57,608,884 (GRCm39) D349E probably benign Het
Vcan T A 13: 89,805,655 (GRCm39) R114* probably null Het
Vmn1r25 T C 6: 57,955,557 (GRCm39) E244G probably benign Het
Vmn2r5 T C 3: 64,398,820 (GRCm39) T720A probably benign Het
Wdr72 T A 9: 74,059,923 (GRCm39) D444E probably benign Het
Zfhx3 T A 8: 109,674,053 (GRCm39) M1701K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTAGCTAGCATGTACCAGGCC -3'
(R):5'- TGGTGACATCAGGCAACTTTG -3'

Sequencing Primer
(F):5'- TGTACCAGGCCCCACATTC -3'
(R):5'- GGCAACTTTGAAACAAATCTTGC -3'
Posted On 2017-08-16