Incidental Mutation 'R6601:Dtnbp1'
Institutional Source Beutler Lab
Gene Symbol Dtnbp1
Ensembl Gene ENSMUSG00000057531
Gene Namedystrobrevin binding protein 1
SynonymsBloc1s8, dysbindin, sdy, 5430437B18Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6601 (G1)
Quality Score225.009
Status Validated
Chromosomal Location44922075-45002147 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 44931245 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072329] [ENSMUST00000110128] [ENSMUST00000220555] [ENSMUST00000221413] [ENSMUST00000222583] [ENSMUST00000222990]
Predicted Effect probably benign
Transcript: ENSMUST00000072329
SMART Domains Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531

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 null
Transcript: ENSMUST00000110128
SMART Domains Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531

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 probably benign
Transcript: ENSMUST00000220555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221393
Predicted Effect probably benign
Transcript: ENSMUST00000221413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222321
Predicted Effect probably benign
Transcript: ENSMUST00000222583
Predicted Effect probably benign
Transcript: ENSMUST00000222990
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T G 1: 58,063,506 L527R probably damaging Het
Ccdc172 T A 19: 58,537,291 C194S possibly damaging Het
Ccnb1ip1 G T 14: 50,793,664 T64K possibly damaging Het
Ces1b T C 8: 93,079,481 E44G probably benign Het
Coro2a A T 4: 46,543,421 Y317* probably null Het
Csnk1a1 T C 18: 61,578,758 F281S probably damaging Het
Ddx28 A T 8: 106,010,616 probably null Het
Eif2s1 T C 12: 78,883,352 I258T possibly damaging Het
Elp3 T C 14: 65,547,039 *554W probably null Het
Golga1 T C 2: 39,020,106 M610V probably damaging Het
Hc T A 2: 35,045,894 K156N probably benign Het
Hcls1 G A 16: 36,962,386 G428D probably benign Het
Il16 T C 7: 83,722,469 D43G probably damaging Het
Klhl3 C A 13: 58,095,116 K91N probably damaging Het
L3mbtl1 C T 2: 162,948,175 probably benign Het
Lamc3 T C 2: 31,920,532 F805L possibly damaging Het
Lipg T C 18: 74,948,204 M269V probably benign Het
Ly75 G A 2: 60,318,376 T1203I probably benign Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Muc16 A T 9: 18,637,570 L5809Q probably benign Het
Naip6 G A 13: 100,283,758 R1335C probably benign Het
Ndufaf3 T C 9: 108,566,217 H128R probably benign Het
Nphp4 A T 4: 152,503,007 probably null Het
Olfr52 T A 2: 86,181,965 I49F probably damaging Het
Otop3 T C 11: 115,339,847 V148A probably damaging Het
Ovgp1 T C 3: 105,986,431 probably benign Het
Pcsk5 T G 19: 17,511,380 R1025S probably benign Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Polr1d T A 5: 147,078,549 L14* probably null Het
Rab26 T A 17: 24,529,621 K270* probably null Het
Rasgef1c T A 11: 49,971,419 N378K probably damaging Het
Rpl7a T C 2: 26,911,524 V76A probably benign Het
Samd9l T A 6: 3,377,229 I11F possibly damaging Het
Smarca2 C A 19: 26,654,377 Q531K probably benign Het
Styxl1 C G 5: 135,755,496 G211A probably benign Het
Taar9 T C 10: 24,109,047 Y163C probably damaging Het
Tmem198 T A 1: 75,480,373 F48I possibly damaging Het
Ttn T A 2: 76,764,729 N12032I probably damaging Het
Ubr7 T A 12: 102,761,464 C82S probably damaging Het
Wwtr1 T C 3: 57,575,738 E48G possibly damaging Het
Zfp108 T C 7: 24,261,394 V470A probably damaging Het
Zfp612 C A 8: 110,089,549 Q424K possibly damaging Het
Zscan4-ps1 T C 7: 11,068,834 T13A probably benign Het
Other mutations in Dtnbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
salt_and_pepper UTSW 13 44941438 intron probably benign
R0226:Dtnbp1 UTSW 13 44923193 missense probably damaging 1.00
R1339:Dtnbp1 UTSW 13 44923220 missense probably damaging 0.99
R6625:Dtnbp1 UTSW 13 44992031 missense possibly damaging 0.95
R6994:Dtnbp1 UTSW 13 45001929 missense probably damaging 0.99
R7529:Dtnbp1 UTSW 13 44931070 missense probably damaging 1.00
R7892:Dtnbp1 UTSW 13 44922289 nonsense probably null
R7960:Dtnbp1 UTSW 13 44953174 missense probably benign 0.24
R8293:Dtnbp1 UTSW 13 44931139 missense probably benign 0.20
R8512:Dtnbp1 UTSW 13 44922391 missense probably benign 0.30
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-06-22