Incidental Mutation 'R5795:Dbndd1'
ID 447178
Institutional Source Beutler Lab
Gene Symbol Dbndd1
Ensembl Gene ENSMUSG00000031970
Gene Name dysbindin domain containing 1
Synonyms dysbindin (dystrobrevin binding protein 1) domain containing 1, 2810427I04Rik, D8Ertd590e
MMRRC Submission 043386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5795 (G1)
Quality Score 150
Status Not validated
Chromosome 8
Chromosomal Location 124231457-124242202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124236619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 83 (I83T)
Ref Sequence ENSEMBL: ENSMUSP00000135524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127664] [ENSMUST00000176155] [ENSMUST00000176286] [ENSMUST00000177240]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176155
AA Change: I83T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135524
Gene: ENSMUSG00000031970
AA Change: I83T

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 189 3.6e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176286
AA Change: I83T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134757
Gene: ENSMUSG00000031970
AA Change: I83T

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 96 3.1e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177240
AA Change: I83T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135216
Gene: ENSMUSG00000031970
AA Change: I83T

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 101 4.5e-10 PFAM
Pfam:Dysbindin 96 142 2.7e-14 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,186,688 (GRCm39) V261A probably benign Het
Adipor1 C A 1: 134,352,641 (GRCm39) N137K probably damaging Het
Ahnak A T 19: 8,989,746 (GRCm39) K3677* probably null Het
Ankrd24 C A 10: 81,480,937 (GRCm39) probably benign Het
Appl1 G T 14: 26,664,773 (GRCm39) P420Q probably benign Het
Bmp8b C A 4: 123,015,761 (GRCm39) F249L possibly damaging Het
Brat1 G T 5: 140,698,827 (GRCm39) A275S probably benign Het
C5ar1 T C 7: 15,982,319 (GRCm39) K234E possibly damaging Het
Cblif A G 19: 11,737,740 (GRCm39) T384A probably damaging Het
Ccs A G 19: 4,883,367 (GRCm39) probably null Het
Chmp5 T G 4: 40,950,562 (GRCm39) probably null Het
Chrna3 T A 9: 54,922,552 (GRCm39) T419S probably benign Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Csf3 G T 11: 98,592,853 (GRCm39) C72F probably damaging Het
Ercc6 A G 14: 32,248,309 (GRCm39) K287E probably damaging Het
F5 C T 1: 163,979,578 (GRCm39) T16I probably benign Het
Hephl1 C T 9: 14,981,056 (GRCm39) G792E probably damaging Het
Hmmr T A 11: 40,612,733 (GRCm39) D158V probably damaging Het
Hsd11b1 A G 1: 192,922,940 (GRCm39) S76P possibly damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Irf7 G A 7: 140,845,029 (GRCm39) P118L probably damaging Het
Lama1 A G 17: 68,103,722 (GRCm39) N1981S probably benign Het
Lrp4 A G 2: 91,304,816 (GRCm39) D224G probably benign Het
Mink1 T C 11: 70,498,616 (GRCm39) Y594H possibly damaging Het
Minpp1 G A 19: 32,491,557 (GRCm39) V412M probably damaging Het
Muc5b G A 7: 141,425,478 (GRCm39) V4708M possibly damaging Het
Mycl G A 4: 122,890,415 (GRCm39) E34K probably damaging Het
Oaf T A 9: 43,135,241 (GRCm39) D179V probably damaging Het
Ogfod2 G A 5: 124,252,824 (GRCm39) G278D probably damaging Het
Or2h1 A G 17: 37,404,661 (GRCm39) L35P probably damaging Het
Or5b12 A G 19: 12,897,188 (GRCm39) F162L possibly damaging Het
Paf1 T G 7: 28,096,043 (GRCm39) M250R probably damaging Het
Pcdh8 T C 14: 80,008,420 (GRCm39) T48A possibly damaging Het
Pdzph1 A G 17: 59,192,862 (GRCm39) V1096A possibly damaging Het
Polr3b T C 10: 84,512,875 (GRCm39) S586P probably damaging Het
Polr3b A T 10: 84,464,116 (GRCm39) E25D probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,348,475 (GRCm39) M274T possibly damaging Het
Slc31a2 T C 4: 62,215,289 (GRCm39) V112A probably damaging Het
Spire1 A T 18: 67,628,265 (GRCm39) S412T probably benign Het
Tanc1 A G 2: 59,637,926 (GRCm39) T876A possibly damaging Het
Tango6 T A 8: 107,444,709 (GRCm39) L538H probably damaging Het
Tas2r125 G A 6: 132,886,621 (GRCm39) G3D probably damaging Het
Tbc1d32 A T 10: 56,091,158 (GRCm39) M125K possibly damaging Het
Traf5 T C 1: 191,731,807 (GRCm39) S345G probably benign Het
Ush2a A T 1: 188,175,594 (GRCm39) I1231F probably benign Het
Vmn2r104 G T 17: 20,250,372 (GRCm39) T633N probably benign Het
Vmn2r104 A G 17: 20,250,544 (GRCm39) S576P possibly damaging Het
Vmn2r105 A T 17: 20,448,998 (GRCm39) C60S probably benign Het
Zfp316 A T 5: 143,248,594 (GRCm39) D217E unknown Het
Zfp456 A T 13: 67,515,039 (GRCm39) D222E probably benign Het
Other mutations in Dbndd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0333:Dbndd1 UTSW 8 124,233,512 (GRCm39) missense probably damaging 1.00
R3825:Dbndd1 UTSW 8 124,236,731 (GRCm39) missense probably damaging 1.00
R3949:Dbndd1 UTSW 8 124,233,473 (GRCm39) missense probably benign 0.19
R5361:Dbndd1 UTSW 8 124,233,484 (GRCm39) missense probably damaging 1.00
R5396:Dbndd1 UTSW 8 124,236,582 (GRCm39) missense probably damaging 1.00
R7184:Dbndd1 UTSW 8 124,235,860 (GRCm39) missense probably damaging 1.00
R9463:Dbndd1 UTSW 8 124,233,547 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTCCATTCTACAGACAGGAC -3'
(R):5'- AATGGAACCCCTCATCATGG -3'

Sequencing Primer
(F):5'- AGGACAACTGCAAGCACAG -3'
(R):5'- AACCCCTCATCATGGCGAGG -3'
Posted On 2016-12-15