Incidental Mutation 'IGL01101:Dbnl'
ID52298
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbnl
Ensembl Gene ENSMUSG00000020476
Gene Namedrebrin-like
SynonymsmAbp1, ABP1, SH3P7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL01101
Quality Score
Status
Chromosome11
Chromosomal Location5788488-5800962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5793722 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 71 (D71G)
Ref Sequence ENSEMBL: ENSMUSP00000105471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020769] [ENSMUST00000102928] [ENSMUST00000109845]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020769
AA Change: D71G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: D71G

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
SH3 380 436 1.62e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102928
AA Change: D71G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: D71G

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
SH3 377 433 1.62e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109845
AA Change: D71G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: D71G

DomainStartEndE-ValueType
ADF 7 133 2.39e-31 SMART
coiled coil region 180 233 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
SH3 376 432 1.62e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,104 Q543L probably benign Het
Adamts20 T A 15: 94,344,042 D695V probably damaging Het
Ahnak T C 19: 9,012,887 probably benign Het
Akap4 T A X: 7,076,184 M242K probably benign Het
Cd207 T C 6: 83,675,857 D97G probably benign Het
Cdc20 A G 4: 118,435,552 V333A possibly damaging Het
Cdhr2 A G 13: 54,718,135 probably benign Het
Cfhr1 T A 1: 139,553,584 Y186F probably benign Het
Cnbd1 T A 4: 18,907,098 I159F probably benign Het
Cyp2j11 A C 4: 96,339,095 M228R probably benign Het
Dach1 C A 14: 97,840,204 S581I possibly damaging Het
F8 T A X: 75,287,387 T966S possibly damaging Het
Filip1 T A 9: 79,898,246 L75F probably benign Het
Foxi2 A G 7: 135,412,007 Y322C probably benign Het
Ftsj3 A G 11: 106,255,632 V7A probably benign Het
Gm8362 A T 14: 6,767,109 S204T probably benign Het
Ibtk C A 9: 85,732,622 probably benign Het
Marf1 C T 16: 14,146,736 V267I possibly damaging Het
Mmp27 T A 9: 7,573,415 D169E probably damaging Het
Olfr1115 C A 2: 87,252,462 T175K probably damaging Het
Olfr1247 C T 2: 89,609,847 C85Y probably benign Het
Olfr728 A T 14: 50,140,054 M195K probably benign Het
P4ha2 G T 11: 54,119,305 C296F probably damaging Het
Slc38a5 T C X: 8,271,511 probably benign Het
Sorbs2 G T 8: 45,745,423 R36L possibly damaging Het
Tmem207 A C 16: 26,517,877 Y42* probably null Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Other mutations in Dbnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Dbnl APN 11 5798105 missense probably benign
IGL01596:Dbnl APN 11 5798279 missense probably damaging 1.00
IGL01924:Dbnl APN 11 5797142 missense probably damaging 1.00
IGL02331:Dbnl APN 11 5799997 makesense probably null
R0433:Dbnl UTSW 11 5796825 critical splice donor site probably null
R0646:Dbnl UTSW 11 5795441 splice site probably benign
R0656:Dbnl UTSW 11 5797321 missense probably benign
R1037:Dbnl UTSW 11 5796807 missense probably damaging 1.00
R1691:Dbnl UTSW 11 5797174 missense probably null 0.12
R1883:Dbnl UTSW 11 5799247 missense probably benign 0.01
R1884:Dbnl UTSW 11 5799247 missense probably benign 0.01
R7033:Dbnl UTSW 11 5798102 missense probably benign 0.44
R7541:Dbnl UTSW 11 5795486 missense probably damaging 0.99
R7702:Dbnl UTSW 11 5798048 missense probably benign
R7761:Dbnl UTSW 11 5788597 missense probably benign 0.33
R7904:Dbnl UTSW 11 5791779 splice site probably null
Z1088:Dbnl UTSW 11 5796797 nonsense probably null
Posted On2013-06-21