Incidental Mutation 'R6625:Dtnbp1'
ID 524759
Institutional Source Beutler Lab
Gene Symbol Dtnbp1
Ensembl Gene ENSMUSG00000057531
Gene Name dystrobrevin binding protein 1
Synonyms 5430437B18Rik, sdy, dysbindin, Bloc1s8
MMRRC Submission 044747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6625 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 45075552-45155614 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45145507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 40 (E40G)
Ref Sequence ENSEMBL: ENSMUSP00000152407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072329] [ENSMUST00000110128] [ENSMUST00000220555] [ENSMUST00000221413] [ENSMUST00000222583] [ENSMUST00000222805] [ENSMUST00000222990] [ENSMUST00000223524]
AlphaFold Q91WZ8
Predicted Effect probably benign
Transcript: ENSMUST00000072329
AA Change: E50G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531
AA Change: E50G

DomainStartEndE-ValueType
low complexity region 97 111 N/A INTRINSIC
Pfam:Dysbindin 175 327 3.4e-65 PFAM
low complexity region 340 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110128
AA Change: E50G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531
AA Change: E50G

DomainStartEndE-ValueType
coiled coil region 92 138 N/A INTRINSIC
Pfam:Dysbindin 175 327 2.1e-65 PFAM
low complexity region 340 351 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000220555
AA Change: E40G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000221413
AA Change: E40G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222583
Predicted Effect possibly damaging
Transcript: ENSMUST00000222805
AA Change: E50G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222990
AA Change: E40G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000223524
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 91% (30/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Apcdd1 C A 18: 63,084,929 (GRCm39) D375E probably damaging Het
Cacna2d1 A T 5: 16,567,391 (GRCm39) R984W probably null Het
Csmd3 T G 15: 47,470,471 (GRCm39) I3402L probably benign Het
Dnah7a T A 1: 53,604,916 (GRCm39) T1281S probably benign Het
Dnmt3b T C 2: 153,507,233 (GRCm39) I139T probably benign Het
Fam162b C T 10: 51,466,391 (GRCm39) G43R probably damaging Het
G2e3 T G 12: 51,400,572 (GRCm39) probably null Het
Kiss1r G A 10: 79,755,368 (GRCm39) V118I possibly damaging Het
Mre11a T C 9: 14,716,687 (GRCm39) M294T possibly damaging Het
Muc16 A T 9: 18,571,574 (GRCm39) V315D unknown Het
Nelfe C T 17: 35,073,334 (GRCm39) P290S probably benign Het
Or2v2 T A 11: 49,003,896 (GRCm39) Y219F probably damaging Het
Or5a3 T G 19: 12,400,205 (GRCm39) H177Q probably damaging Het
Pcolce2 T A 9: 95,560,492 (GRCm39) C180* probably null Het
Piezo2 A T 18: 63,154,333 (GRCm39) V2482D probably damaging Het
Plagl1 T C 10: 13,003,806 (GRCm39) probably benign Het
Pramel31 T A 4: 144,090,369 (GRCm39) Y470N probably damaging Het
Pramel57 C T 5: 95,669,342 (GRCm39) H124Y possibly damaging Het
Prss48 G T 3: 85,905,373 (GRCm39) Q167K probably benign Het
Saxo4 G A 19: 10,459,100 (GRCm39) P65L probably damaging Het
Scyl1 C A 19: 5,810,854 (GRCm39) V488F probably damaging Het
Sh3pxd2b T A 11: 32,372,594 (GRCm39) L587Q possibly damaging Het
Sim1 A G 10: 50,860,082 (GRCm39) D648G probably benign Het
Snupn G A 9: 56,890,054 (GRCm39) V292I probably benign Het
St6galnac1 T C 11: 116,656,717 (GRCm39) H474R probably damaging Het
Thap12 G A 7: 98,365,277 (GRCm39) V482I probably benign Het
Usp13 T A 3: 32,949,025 (GRCm39) V454D probably damaging Het
Usp40 T C 1: 87,894,935 (GRCm39) I862V probably benign Het
Vmn2r59 A T 7: 41,693,177 (GRCm39) F474L probably benign Het
Zbtb38 T C 9: 96,569,366 (GRCm39) R573G probably damaging Het
Zfp493 C T 13: 67,934,514 (GRCm39) Q156* probably null Het
Zfp873 C A 10: 81,896,138 (GRCm39) P290T probably damaging Het
Other mutations in Dtnbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
salt_and_pepper UTSW 13 44,941,438 (GRCm38) intron probably benign
R0226:Dtnbp1 UTSW 13 45,076,669 (GRCm39) missense probably damaging 1.00
R1339:Dtnbp1 UTSW 13 45,076,696 (GRCm39) missense probably damaging 0.99
R6601:Dtnbp1 UTSW 13 45,084,721 (GRCm39) critical splice donor site probably null
R6994:Dtnbp1 UTSW 13 45,155,405 (GRCm39) missense probably damaging 0.99
R7529:Dtnbp1 UTSW 13 45,084,546 (GRCm39) missense probably damaging 1.00
R7892:Dtnbp1 UTSW 13 45,075,765 (GRCm39) nonsense probably null
R7960:Dtnbp1 UTSW 13 45,106,650 (GRCm39) missense probably benign 0.24
R8293:Dtnbp1 UTSW 13 45,084,615 (GRCm39) missense probably benign 0.20
R8512:Dtnbp1 UTSW 13 45,075,867 (GRCm39) missense probably benign 0.30
R8784:Dtnbp1 UTSW 13 45,075,702 (GRCm39) missense unknown
R9136:Dtnbp1 UTSW 13 45,084,546 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TACTGAGCAGTGAATAAGAAGCC -3'
(R):5'- TGTCGTTATTTGCATGCCTG -3'

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