Incidental Mutation 'IGL00902:Dbnl'
ID28487
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: 0.186) question?
Stock #IGL00902
Quality Score
Status
Chromosome11
Chromosomal Location5788488-5800962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 5798105 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 313 (A313S)
Ref Sequence ENSEMBL: ENSMUSP00000105471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020768] [ENSMUST00000020769] [ENSMUST00000102928] [ENSMUST00000109845]
Predicted Effect probably benign
Transcript: ENSMUST00000020768
SMART Domains Protein: ENSMUSP00000020768
Gene: ENSMUSG00000020475

DomainStartEndE-ValueType
PGAM 5 193 8.71e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020769
AA Change: A317S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: A317S

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 probably benign
Transcript: ENSMUST00000102928
AA Change: A314S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: A314S

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 probably benign
Transcript: ENSMUST00000109845
AA Change: A313S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: A313S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,041,345 G1001D probably damaging Het
Adamts7 T G 9: 90,188,794 probably null Het
Akap11 A G 14: 78,495,838 S1876P probably benign Het
Capn10 A G 1: 92,942,559 I256V probably benign Het
Catsperg2 T A 7: 29,701,143 H262L possibly damaging Het
Col22a1 C A 15: 71,964,659 G509V probably damaging Het
Dab2ip T C 2: 35,717,112 F523S probably damaging Het
Ddo T C 10: 40,647,554 V180A probably damaging Het
Enox1 A G 14: 77,582,404 M200V possibly damaging Het
Fabp6 G A 11: 43,598,716 R33C probably damaging Het
Gm9104 T C 17: 45,466,014 probably benign Het
Gspt1 C T 16: 11,232,579 V303I probably damaging Het
Igf2r C T 17: 12,700,358 C1469Y probably damaging Het
Igflr1 T C 7: 30,567,275 S183P possibly damaging Het
Itga6 T C 2: 71,849,394 V1001A probably benign Het
Itih1 G A 14: 30,932,482 probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrp5 T C 19: 3,600,774 N1220S probably damaging Het
March6 A G 15: 31,484,978 Y434H probably damaging Het
Mbd1 A G 18: 74,275,239 Y211C possibly damaging Het
Mpeg1 C A 19: 12,461,769 A197D probably damaging Het
Mroh2b T A 15: 4,915,222 L435Q probably damaging Het
Mss51 A C 14: 20,486,167 M160R probably damaging Het
Ndufs7 T G 10: 80,256,005 Y190* probably null Het
Olfr1015 T C 2: 85,786,117 M202T probably benign Het
Olfr768 T A 10: 129,093,396 I193L probably benign Het
Pcdh17 A G 14: 84,446,849 E252G probably damaging Het
Ric1 T C 19: 29,567,231 V151A probably benign Het
Sgo2a A G 1: 58,016,099 T481A probably benign Het
Slc5a8 A G 10: 88,919,461 T477A probably benign Het
Smg5 G A 3: 88,353,085 V661I probably benign Het
Snx19 A T 9: 30,428,732 I389F possibly damaging Het
Spem1 A T 11: 69,821,817 I64N probably damaging Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Thada A T 17: 84,447,976 M262K probably damaging Het
Uox A G 3: 146,610,406 D32G possibly damaging Het
Usp42 A T 5: 143,719,874 probably benign Het
Usp43 G A 11: 67,891,419 P391L probably benign Het
Vmn2r56 T C 7: 12,715,499 S271G probably benign Het
Wdr64 T A 1: 175,728,825 C213S probably damaging Het
Zfp26 A T 9: 20,439,548 S194T possibly damaging Het
Other mutations in Dbnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Dbnl APN 11 5793722 missense possibly damaging 0.94
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
Z1088:Dbnl UTSW 11 5796797 nonsense probably null
Posted On2013-04-17