Incidental Mutation 'R1037:Dbnl'
ID93877
Institutional Source Beutler Lab
Gene Symbol Dbnl
Ensembl Gene ENSMUSG00000020476
Gene Namedrebrin-like
SynonymsmAbp1, ABP1, SH3P7
MMRRC Submission 039136-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #R1037 (G1)
Quality Score185
Status Validated
Chromosome11
Chromosomal Location5788488-5800962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5796807 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 179 (F179S)
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 damaging
Transcript: ENSMUST00000020769
AA Change: F179S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: F179S

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 damaging
Transcript: ENSMUST00000102928
AA Change: F179S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: F179S

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 damaging
Transcript: ENSMUST00000109845
AA Change: F179S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: F179S

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
Meta Mutation Damage Score 0.452 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.1%
  • 10x: 94.3%
  • 20x: 85.9%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 105,709,512 S139G probably benign Het
Abca2 T A 2: 25,438,228 probably benign Het
Abcb1b A T 5: 8,825,657 N610I probably benign Het
Ahnak T C 19: 9,007,618 F2089L probably benign Het
Cacnb1 T C 11: 98,005,017 probably benign Het
Cep57 T C 9: 13,818,979 I61V possibly damaging Het
Ckap5 T C 2: 91,550,629 I110T probably benign Het
Clasp2 T C 9: 113,896,634 probably benign Het
Col11a1 A C 3: 114,194,152 E265A probably damaging Het
Cst13 A G 2: 148,830,331 probably benign Het
Cyp24a1 G A 2: 170,491,617 T272M probably damaging Het
Cyp4a14 A C 4: 115,489,996 L415R probably damaging Het
Eepd1 T C 9: 25,586,783 L388P possibly damaging Het
Exosc8 G T 3: 54,732,738 A55E probably damaging Het
Fam72a G A 1: 131,533,819 V81I probably damaging Het
Fasn C T 11: 120,809,451 M2182I probably benign Het
Fras1 C T 5: 96,714,463 P2234S probably damaging Het
Grn C A 11: 102,433,070 D33E possibly damaging Het
Gsap A G 5: 21,251,165 probably benign Het
Hist1h2bn T A 13: 21,754,247 V42E probably damaging Het
Hook3 T C 8: 26,072,350 Q229R possibly damaging Het
Itgb6 T C 2: 60,650,068 E308G probably damaging Het
Kmo C T 1: 175,651,618 P240L possibly damaging Het
Lrrc4c A G 2: 97,629,985 M319V probably benign Het
Mia3 T C 1: 183,357,354 I672M probably benign Het
Mib2 C T 4: 155,659,460 G42S probably damaging Het
Mlc1 A G 15: 88,965,461 L223P probably damaging Het
Mmp21 T C 7: 133,674,453 K554E probably benign Het
Nup160 C T 2: 90,693,902 T383I probably damaging Het
Olfr1166 A G 2: 88,124,229 I252T probably damaging Het
Olfr1197 T A 2: 88,729,032 D189V probably damaging Het
Olfr177 T C 16: 58,872,970 Y60C probably damaging Het
Olfr201 C T 16: 59,268,944 C241Y probably damaging Het
Olfr516 T A 7: 108,845,984 T9S probably benign Het
Opcml T A 9: 28,903,299 D290E probably damaging Het
Palm3 C A 8: 84,029,272 T471K probably benign Het
Prl2c5 T A 13: 13,185,907 L50* probably null Het
Pzp T C 6: 128,519,426 N281S probably benign Het
Qser1 T C 2: 104,760,555 Y1722C probably damaging Het
Ryr3 A G 2: 112,869,108 V879A probably benign Het
Sbno1 A G 5: 124,393,912 S736P possibly damaging Het
Sept5 G A 16: 18,623,094 probably benign Het
Slc17a6 A G 7: 51,649,248 probably benign Het
Spag17 A T 3: 100,103,117 T1976S probably benign Het
Swt1 A T 1: 151,370,569 probably benign Het
Tenm4 T C 7: 96,797,481 W853R probably damaging Het
Thbs1 A T 2: 118,123,051 Q983L probably damaging Het
Tmem191c A G 16: 17,276,483 probably benign Het
Tmprss11g A T 5: 86,490,747 V294D probably damaging Het
Tor1aip2 A G 1: 156,065,336 S463G probably benign Het
Trim36 A G 18: 46,196,318 probably benign Het
Ttc1 A G 11: 43,730,499 V285A possibly damaging Het
Uckl1 C T 2: 181,572,485 R303H possibly damaging Het
Vwa8 C A 14: 79,086,654 C1132* probably null Het
Other mutations in Dbnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Dbnl APN 11 5798105 missense probably benign
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
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
Z1088:Dbnl UTSW 11 5796797 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAAACCTGCCTCAGCCTCTTGG -3'
(R):5'- TTCTGCAAAGGAGCTGCTCACTC -3'

Sequencing Primer
(F):5'- TTGAGCCTACCAGATGCAGTC -3'
(R):5'- TCACTCAGCCATGTGCAG -3'
Posted On2014-01-05