Incidental Mutation 'R7892:Dtnbp1'
ID 609399
Institutional Source Beutler Lab
Gene Symbol Dtnbp1
Ensembl Gene ENSMUSG00000057531
Gene Name dystrobrevin binding protein 1
Synonyms 5430437B18Rik, sdy, dysbindin, Bloc1s8
MMRRC Submission 045944-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7892 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 45075552-45155614 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45075765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 326 (L326*)
Ref Sequence ENSEMBL: ENSMUSP00000072170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000072329] [ENSMUST00000110128] [ENSMUST00000173246] [ENSMUST00000173704] [ENSMUST00000220555] [ENSMUST00000221413] [ENSMUST00000222583] [ENSMUST00000222990]
AlphaFold Q91WZ8
Predicted Effect probably benign
Transcript: ENSMUST00000044608
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072329
AA Change: L326*
SMART Domains Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531
AA Change: L326*

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 null
Transcript: ENSMUST00000110128
AA Change: L326*
SMART Domains Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531
AA Change: L326*

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 probably benign
Transcript: ENSMUST00000173246
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173704
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1190 1e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220555
AA Change: L316*
Predicted Effect probably benign
Transcript: ENSMUST00000221413
Predicted Effect probably null
Transcript: ENSMUST00000222583
AA Change: L245*
Predicted Effect probably benign
Transcript: ENSMUST00000222990
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,349 (GRCm39) E134G Het
Acsm4 G A 7: 119,293,889 (GRCm39) V87M possibly damaging Het
Adamts3 T C 5: 90,009,288 (GRCm39) N125S probably benign Het
Arhgef4 A G 1: 34,760,885 (GRCm39) E47G unknown Het
C1ra A G 6: 124,496,374 (GRCm39) M367V probably benign Het
Ces2b T C 8: 105,559,385 (GRCm39) W84R probably damaging Het
Clca3a1 T C 3: 144,436,579 (GRCm39) T835A probably benign Het
Cmya5 T C 13: 93,232,865 (GRCm39) E741G probably damaging Het
Cspg4b C T 13: 113,456,140 (GRCm39) R729C Het
D330020A13Rik T C 6: 120,271,819 (GRCm39) L165P unknown Het
Ecpas T C 4: 58,828,593 (GRCm39) I947V probably benign Het
Fat4 A T 3: 39,003,588 (GRCm39) probably null Het
Fbxl9 A T 8: 106,042,165 (GRCm39) I221N possibly damaging Het
Fuom T A 7: 139,679,492 (GRCm39) I143F unknown Het
Gm14444 A T 2: 174,858,524 (GRCm39) M33L probably damaging Het
Hmcn1 T C 1: 150,540,643 (GRCm39) T2889A probably benign Het
Kif5b G A 18: 6,212,517 (GRCm39) T769M probably benign Het
Kif9 G A 9: 110,343,682 (GRCm39) R567H not run Het
Kmt2c A T 5: 25,504,814 (GRCm39) M3498K probably benign Het
Ly6e T A 15: 74,829,700 (GRCm39) L15* probably null Het
Malt1 G A 18: 65,597,187 (GRCm39) probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Oacyl T C 18: 65,870,918 (GRCm39) L373P probably benign Het
Or10d1 A C 9: 39,483,845 (GRCm39) S237A possibly damaging Het
Or4b1d T C 2: 89,968,836 (GRCm39) I216V probably benign Het
Or5b116 T A 19: 13,422,662 (GRCm39) C95* probably null Het
Or5b21 C T 19: 12,839,843 (GRCm39) R235* probably null Het
Pcdh20 A T 14: 88,704,867 (GRCm39) L811* probably null Het
Pgrmc2 A T 3: 41,037,415 (GRCm39) D5E probably damaging Het
Pign A C 1: 105,585,401 (GRCm39) F49L probably benign Het
Pip5k1b T C 19: 24,337,457 (GRCm39) D277G probably benign Het
Ppm1m A G 9: 106,075,895 (GRCm39) V11A probably benign Het
Prl7a1 A T 13: 27,817,661 (GRCm39) V201E not run Het
Samhd1 A G 2: 156,958,415 (GRCm39) S269P probably damaging Het
Sik2 A G 9: 50,920,132 (GRCm39) V15A probably damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Sntg1 T C 1: 8,853,024 (GRCm39) D42G probably damaging Het
Speg A T 1: 75,403,810 (GRCm39) N2664Y probably damaging Het
Tcstv1b G T 13: 120,634,695 (GRCm39) probably benign Het
Treh A G 9: 44,596,015 (GRCm39) Y435C probably damaging Het
Trim59 A G 3: 68,945,140 (GRCm39) S67P probably benign Het
Trim68 A T 7: 102,328,004 (GRCm39) C309S unknown Het
Tubb4a G T 17: 57,387,880 (GRCm39) S382* probably null Het
Vmn2r15 A T 5: 109,434,217 (GRCm39) I829N probably damaging Het
Vmn2r68 T C 7: 84,883,722 (GRCm39) T128A probably benign Het
Vmn2r70 T A 7: 85,208,588 (GRCm39) I630L possibly damaging Het
Zc3hav1 A G 6: 38,306,156 (GRCm39) I632T probably benign Het
Zfp558 A G 9: 18,379,993 (GRCm39) S13P possibly 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
R6625:Dtnbp1 UTSW 13 45,145,507 (GRCm39) missense possibly damaging 0.95
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
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'- GTGAGCGCTTCTCTAATGGTTC -3'
(R):5'- AGTTCCCAAATGCAATCAGAGG -3'

Sequencing Primer
(F):5'- GGTTCTTACATCCCATTAGCAAGTG -3'
(R):5'- CCCAAATGCAATCAGAGGCTTTTTC -3'
Posted On 2019-12-20