Incidental Mutation 'R8359:Dynlrb1'
ID 645900
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 067872-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8359 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155078453-155092197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155091870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 93 (N93D)
Ref Sequence ENSEMBL: ENSMUSP00000105304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109682] [ENSMUST00000150602]
AlphaFold P62627
PDB Structure Solution structure of a mouse cytoplasmic Roadblock/LC7 dynein light chain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000109682
AA Change: N93D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105304
Gene: ENSMUSG00000047459
AA Change: N93D

DomainStartEndE-ValueType
Robl_LC7 4 92 1.92e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150602
AA Change: N101D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000114928
Gene: ENSMUSG00000047459
AA Change: N101D

DomainStartEndE-ValueType
Robl_LC7 12 100 1.92e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,296,502 (GRCm39) V315D probably damaging Het
Adgrf1 A T 17: 43,621,286 (GRCm39) I508F probably damaging Het
Atpaf2 T C 11: 60,298,129 (GRCm39) D147G probably damaging Het
Brwd1 T C 16: 95,817,409 (GRCm39) T1368A probably damaging Het
Cacna1s A T 1: 136,043,799 (GRCm39) E1626V probably benign Het
Carm1 G A 9: 21,480,765 (GRCm39) V80I possibly damaging Het
Cenpw T A 10: 30,074,484 (GRCm39) D71V probably damaging Het
Cit T A 5: 116,122,603 (GRCm39) probably null Het
Ckmt1 A T 2: 121,193,531 (GRCm39) T364S probably benign Het
Col6a4 T C 9: 105,945,583 (GRCm39) S844G probably benign Het
Crybg1 T C 10: 43,868,538 (GRCm39) E1380G probably benign Het
Cyp21a1 A G 17: 35,021,105 (GRCm39) probably null Het
Dhodh A C 8: 110,333,038 (GRCm39) D12E probably benign Het
Dnali1 T A 4: 124,957,460 (GRCm39) T95S probably damaging Het
Edem1 C T 6: 108,823,774 (GRCm39) A390V probably benign Het
Enthd1 T C 15: 80,358,356 (GRCm39) D388G probably benign Het
Fam170a A G 18: 50,414,677 (GRCm39) T108A probably damaging Het
Fryl A G 5: 73,233,276 (GRCm39) S1531P probably benign Het
Golm2 A T 2: 121,697,632 (GRCm39) probably benign Het
Hspbap1 C A 16: 35,645,366 (GRCm39) N350K probably benign Het
Htr3b A C 9: 48,858,596 (GRCm39) S94R probably damaging Het
Ide A T 19: 37,307,886 (GRCm39) V42E Het
Igf2r A G 17: 12,902,748 (GRCm39) V2434A probably benign Het
Katnip T C 7: 125,468,023 (GRCm39) probably null Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Mccc1 C T 3: 36,018,493 (GRCm39) V614I probably benign Het
Mos A G 4: 3,871,097 (GRCm39) Y240H probably damaging Het
Myh11 C T 16: 14,026,095 (GRCm39) probably null Het
Nexn T A 3: 151,953,998 (GRCm39) D166V probably damaging Het
Or10h1b G A 17: 33,395,895 (GRCm39) C173Y probably damaging Het
Or2t47 G T 11: 58,443,029 (GRCm39) T12N probably benign Het
Or4p4 A T 2: 88,483,332 (GRCm39) M279L probably benign Het
Or5p81 T A 7: 108,267,518 (GRCm39) N298K probably benign Het
Pkp4 A G 2: 59,180,895 (GRCm39) Y1061C probably damaging Het
Pla2g6 T C 15: 79,171,370 (GRCm39) D740G probably damaging Het
Pla2r1 T A 2: 60,273,627 (GRCm39) I920L probably benign Het
Plekha2 A G 8: 25,578,407 (GRCm39) I31T probably damaging Het
Ppp1r16b G T 2: 158,603,295 (GRCm39) V407L probably benign Het
Prss50 A G 9: 110,691,370 (GRCm39) I225V probably damaging Het
Rmdn2 A T 17: 79,935,580 (GRCm39) E231V Het
Sema3c T C 5: 17,858,726 (GRCm39) S42P possibly damaging Het
Sh2d1b1 T A 1: 170,110,693 (GRCm39) probably null Het
Slc22a20 T C 19: 6,021,554 (GRCm39) I483V probably benign Het
Slc30a2 T C 4: 134,076,690 (GRCm39) V275A probably damaging Het
Slc6a3 T A 13: 73,693,002 (GRCm39) F207L probably benign Het
Slc9a1 A T 4: 133,147,927 (GRCm39) Q648H probably damaging Het
Slpi A T 2: 164,197,975 (GRCm39) M1K probably null Het
Smc5 A C 19: 23,211,443 (GRCm39) S564A possibly damaging Het
Smchd1 A T 17: 71,738,238 (GRCm39) F542L probably damaging Het
Sycp1 T A 3: 102,727,909 (GRCm39) K901N probably damaging Het
Synpo2l T A 14: 20,716,208 (GRCm39) T126S probably benign Het
Upp2 A G 2: 58,667,955 (GRCm39) N216S probably benign Het
Wnk1 T C 6: 119,969,408 (GRCm39) D349G probably damaging Het
Zfp180 C T 7: 23,804,337 (GRCm39) A252V probably benign Het
Zfr2 C T 10: 81,078,653 (GRCm39) T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 (GRCm39) T504I possibly damaging Het
Other mutations in Dynlrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3078:Dynlrb1 UTSW 2 155,091,865 (GRCm39) missense probably damaging 1.00
R4085:Dynlrb1 UTSW 2 155,091,896 (GRCm39) utr 3 prime probably benign
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'- ATTCCAAAGCCTGCAAGGG -3'

Sequencing Primer
(F):5'- AGGAACTTGGTTACTTCCTGC -3'
(R):5'- CTGCAAGGGCGAACTGATTC -3'
Posted On 2020-09-02