Incidental Mutation 'R3078:Dynlrb1'
ID 265277
Institutional Source Beutler Lab
Gene Symbol Dynlrb1
Ensembl Gene ENSMUSG00000047459
Gene Name dynein light chain roadblock-type 1
Synonyms km23-1, 2010320M17Rik, 2010012N15Rik, DNLC2A, Dncl2a
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3078 (G1)
Quality Score 223
Status Validated
Chromosome 2
Chromosomal Location 155078453-155092197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155091865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 99 (I99N)
Ref Sequence ENSEMBL: ENSMUSP00000114928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109682] [ENSMUST00000150602]
AlphaFold P62627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054912
Predicted Effect probably damaging
Transcript: ENSMUST00000109682
AA Change: I91N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105304
Gene: ENSMUSG00000047459
AA Change: I91N

DomainStartEndE-ValueType
Robl_LC7 4 92 1.92e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135831
Predicted Effect probably damaging
Transcript: ENSMUST00000150602
AA Change: I99N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114928
Gene: ENSMUSG00000047459
AA Change: I99N

DomainStartEndE-ValueType
Robl_LC7 12 100 1.92e-21 SMART
Meta Mutation Damage Score 0.6115 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Alg10b T C 15: 90,112,139 (GRCm39) S328P probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Clca4a C T 3: 144,674,014 (GRCm39) M240I probably damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Myoz1 T C 14: 20,703,685 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null Het
Other mutations in Dynlrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4085:Dynlrb1 UTSW 2 155,091,896 (GRCm39) utr 3 prime probably benign
R8359:Dynlrb1 UTSW 2 155,091,870 (GRCm39) missense probably benign 0.00
R8558:Dynlrb1 UTSW 2 155,084,728 (GRCm39) critical splice donor site probably null
R9320:Dynlrb1 UTSW 2 155,089,860 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTTGGCAGCAGACAGTAAGG -3'
(R):5'- TCTCATTCCAAAGCCTGCAAG -3'

Sequencing Primer
(F):5'- AGGAACTTGGTTACTTCCTGC -3'
(R):5'- CTGCAAGGGCGAACTGATTC -3'
Posted On 2015-02-05