Incidental Mutation 'R0522:Dynll1'
ID 48630
Institutional Source Beutler Lab
Gene Symbol Dynll1
Ensembl Gene ENSMUSG00000009013
Gene Name dynein light chain LC8-type 1
Synonyms DLC8, Dnclc1, Pin, 8kDa LC
MMRRC Submission 038715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0522 (G1)
Quality Score 203
Status Validated
Chromosome 5
Chromosomal Location 115435129-115438995 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 115438565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000009157] [ENSMUST00000040421] [ENSMUST00000112090]
AlphaFold P63168
Predicted Effect probably benign
Transcript: ENSMUST00000009157
SMART Domains Protein: ENSMUSP00000009157
Gene: ENSMUSG00000009013

DomainStartEndE-ValueType
Dynein_light 1 88 1.67e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040421
SMART Domains Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Methyltransf_23 13 311 2.2e-8 PFAM
Pfam:Ubie_methyltran 59 326 1.4e-91 PFAM
Pfam:Methyltransf_31 104 305 3.4e-12 PFAM
Pfam:Methyltransf_25 110 240 1.3e-11 PFAM
Pfam:Methyltransf_11 150 244 4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112090
SMART Domains Protein: ENSMUSP00000107720
Gene: ENSMUSG00000009013

DomainStartEndE-ValueType
Pfam:Dynein_light 1 89 5.4e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149609
Predicted Effect probably benign
Transcript: ENSMUST00000129024
SMART Domains Protein: ENSMUSP00000123308
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 1 135 3.2e-28 PFAM
Pfam:Methyltransf_25 16 134 3.4e-9 PFAM
Pfam:Methyltransf_11 56 135 7.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying a knock-out mutation of this gene exhibit preweaning lethality. Mice homozygous for a gene trap allele exhibit heterotaxia, small or absent lungs and abnormal cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 A G 8: 84,456,805 (GRCm39) I192T probably benign Het
Adgrl3 T C 5: 81,874,648 (GRCm39) Y982H possibly damaging Het
Adgrv1 T A 13: 81,676,561 (GRCm39) probably benign Het
Alms1 T C 6: 85,598,597 (GRCm39) V1610A probably benign Het
Ankrd24 T C 10: 81,472,189 (GRCm39) probably benign Het
C2cd3 A G 7: 100,044,429 (GRCm39) N337S probably benign Het
Cdc40 T C 10: 40,733,608 (GRCm39) Y114C probably benign Het
Cdhr1 A T 14: 36,815,957 (GRCm39) probably null Het
Cfc1 G A 1: 34,576,234 (GRCm39) C98Y probably damaging Het
Cyp11b2 A T 15: 74,723,533 (GRCm39) probably benign Het
Cyth4 C A 15: 78,499,985 (GRCm39) H255Q possibly damaging Het
Degs1l A C 1: 180,887,312 (GRCm39) D299A probably damaging Het
Dip2a T C 10: 76,157,365 (GRCm39) K80R probably benign Het
Dnajb5 G T 4: 42,957,083 (GRCm39) D257Y probably damaging Het
Edn1 T A 13: 42,458,430 (GRCm39) V81E probably damaging Het
F5 T C 1: 164,039,332 (GRCm39) S1981P probably damaging Het
Fam186b T A 15: 99,178,400 (GRCm39) M309L probably benign Het
Gm14221 G A 2: 160,416,597 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,267,328 (GRCm39) probably benign Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gpr176 A G 2: 118,114,493 (GRCm39) C106R probably damaging Het
Hdac7 A T 15: 97,704,560 (GRCm39) probably null Het
Hlx T C 1: 184,463,837 (GRCm39) S168G probably damaging Het
Hnf1a G T 5: 115,088,747 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,949,472 (GRCm39) L19F possibly damaging Het
Hspa14 T A 2: 3,512,086 (GRCm39) T63S probably damaging Het
Insrr C T 3: 87,708,179 (GRCm39) S207F probably damaging Het
Jak3 C A 8: 72,134,918 (GRCm39) probably benign Het
Jmjd7 G A 2: 119,860,822 (GRCm39) A91T probably damaging Het
Lgals9 G T 11: 78,856,638 (GRCm39) H265Q possibly damaging Het
Lrriq1 T G 10: 102,997,638 (GRCm39) N1326H probably damaging Het
Mdn1 C A 4: 32,672,837 (GRCm39) Q486K probably benign Het
Mpeg1 A G 19: 12,439,123 (GRCm39) T194A probably damaging Het
Nek5 T A 8: 22,578,813 (GRCm39) probably benign Het
Pcgf2 A C 11: 97,582,873 (GRCm39) I135M probably benign Het
Phactr1 G T 13: 43,213,067 (GRCm39) A222S probably benign Het
Pla2r1 T C 2: 60,309,859 (GRCm39) S575G probably benign Het
Plcg2 T C 8: 118,341,027 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Polg A G 7: 79,109,899 (GRCm39) probably benign Het
Poteg T G 8: 27,939,986 (GRCm39) L48V possibly damaging Het
Prmt1 A T 7: 44,631,203 (GRCm39) C50S probably benign Het
Prx T A 7: 27,217,620 (GRCm39) V707E probably damaging Het
Rrp12 C T 19: 41,863,144 (GRCm39) probably benign Het
Saxo1 A T 4: 86,363,340 (GRCm39) V381E probably damaging Het
Sh2d2a T C 3: 87,754,416 (GRCm39) probably null Het
Slc26a5 A C 5: 22,051,343 (GRCm39) I57R probably damaging Het
Slc38a3 T A 9: 107,532,412 (GRCm39) probably null Het
Slc5a4b T C 10: 75,926,534 (GRCm39) T188A probably damaging Het
Slc7a13 A G 4: 19,824,010 (GRCm39) I260V probably benign Het
Smg8 A T 11: 86,977,288 (GRCm39) S98T probably benign Het
Spart T A 3: 55,035,786 (GRCm39) S548R probably damaging Het
Sult6b1 C T 17: 79,212,958 (GRCm39) G98S probably damaging Het
Tbc1d2 A G 4: 46,649,806 (GRCm39) Y77H probably damaging Het
Tet2 T A 3: 133,172,565 (GRCm39) D1899V probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Uap1l1 T C 2: 25,253,289 (GRCm39) E382G probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Ugt1a9 T C 1: 87,999,114 (GRCm39) V188A probably damaging Het
Virma T C 4: 11,519,416 (GRCm39) probably null Het
Xrcc6 T C 15: 81,906,793 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zfp804b T A 5: 6,822,014 (GRCm39) T350S probably benign Het
Zfp959 G T 17: 56,203,201 (GRCm39) R61M probably null Het
Other mutations in Dynll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Dynll1 APN 5 115,436,852 (GRCm39) missense probably damaging 0.99
R4396:Dynll1 UTSW 5 115,438,700 (GRCm39) missense probably benign
R9130:Dynll1 UTSW 5 115,438,604 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TCGACTAACTCCCGACTAGAAGGC -3'
(R):5'- ACACAGGTAACCATGTGCGACC -3'

Sequencing Primer
(F):5'- CTAGAAGGCTGGCAAGATCTCC -3'
(R):5'- TAACCATGTGCGACCGGAAG -3'
Posted On 2013-06-12