Incidental Mutation 'IGL02331:Dbnl'
ID 288690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dbnl
Ensembl Gene ENSMUSG00000020476
Gene Name drebrin-like
Synonyms ABP1, SH3P7, mAbp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL02331
Quality Score
Status
Chromosome 11
Chromosomal Location 5738488-5750962 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 5749997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 433 (*433R)
Ref Sequence ENSEMBL: ENSMUSP00000105471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020768] [ENSMUST00000020769] [ENSMUST00000102928] [ENSMUST00000109845]
AlphaFold Q62418
Predicted Effect probably benign
Transcript: ENSMUST00000020768
SMART Domains Protein: ENSMUSP00000020768
Gene: ENSMUSG00000020475

DomainStartEndE-ValueType
PGAM 5 193 8.71e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000020769
AA Change: *437R
SMART Domains Protein: ENSMUSP00000020769
Gene: ENSMUSG00000020476
AA Change: *437R

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 null
Transcript: ENSMUST00000102928
AA Change: *434R
SMART Domains Protein: ENSMUSP00000099992
Gene: ENSMUSG00000020476
AA Change: *434R

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 null
Transcript: ENSMUST00000109845
AA Change: *433R
SMART Domains Protein: ENSMUSP00000105471
Gene: ENSMUSG00000020476
AA Change: *433R

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,862,170 (GRCm39) F241L possibly damaging Het
Alx1 A G 10: 102,858,160 (GRCm39) F180L possibly damaging Het
Apaf1 T C 10: 90,895,481 (GRCm39) D428G probably damaging Het
Arap2 G T 5: 62,807,025 (GRCm39) probably benign Het
Arnt2 A G 7: 83,914,832 (GRCm39) Y511H probably damaging Het
Bmp7 A T 2: 172,714,724 (GRCm39) C362S probably damaging Het
Bpifb9a A G 2: 154,104,307 (GRCm39) D250G possibly damaging Het
Ccnk T A 12: 108,155,343 (GRCm39) L100H probably damaging Het
Cdh23 T C 10: 60,301,322 (GRCm39) I451V probably damaging Het
Cemip A G 7: 83,613,192 (GRCm39) probably null Het
Cep78 T A 19: 15,951,779 (GRCm39) Q342L probably benign Het
Clca3b T C 3: 144,547,167 (GRCm39) probably benign Het
Cpb2 A G 14: 75,520,844 (GRCm39) R420G possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Elovl5 T C 9: 77,887,181 (GRCm39) S191P possibly damaging Het
Fbxo42 A G 4: 140,895,157 (GRCm39) E40G probably benign Het
Fpgt T C 3: 154,793,499 (GRCm39) D176G possibly damaging Het
Gm1110 C A 9: 26,824,583 (GRCm39) probably null Het
Grik4 A T 9: 42,453,284 (GRCm39) S700R probably damaging Het
Herc4 T C 10: 63,099,939 (GRCm39) S121P probably benign Het
Hps4 T C 5: 112,517,402 (GRCm39) V263A probably benign Het
Hsd11b1 A C 1: 192,922,924 (GRCm39) L81R probably damaging Het
Ift122 T C 6: 115,864,285 (GRCm39) M310T probably damaging Het
Isg20l2 G T 3: 87,839,394 (GRCm39) V202L probably damaging Het
Klf3 A G 5: 64,986,415 (GRCm39) K111E probably damaging Het
Kxd1 T C 8: 70,968,090 (GRCm39) T128A probably benign Het
Lgals7 A G 7: 28,565,143 (GRCm39) T94A probably benign Het
Lrp5 T C 19: 3,641,816 (GRCm39) H1382R possibly damaging Het
Muc6 T C 7: 141,226,726 (GRCm39) T1434A possibly damaging Het
Mybl2 C T 2: 162,916,605 (GRCm39) R419W probably damaging Het
Myo5b A T 18: 74,771,111 (GRCm39) probably null Het
Myo7a A G 7: 97,702,389 (GRCm39) V2138A possibly damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Ntrk2 T C 13: 58,994,670 (GRCm39) probably null Het
Or8g21 A G 9: 38,906,402 (GRCm39) S110P probably damaging Het
Osbpl5 A G 7: 143,263,532 (GRCm39) V105A probably benign Het
Pfkp A C 13: 6,647,996 (GRCm39) F527V probably benign Het
Pilra C A 5: 137,833,917 (GRCm39) G47* probably null Het
Pkdrej C A 15: 85,705,528 (GRCm39) C136F probably damaging Het
Ppp1r16a T A 15: 76,575,200 (GRCm39) M36K probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf40 T C 7: 127,188,999 (GRCm39) V124A probably benign Het
St7l A G 3: 104,833,904 (GRCm39) T522A probably damaging Het
Stox2 G A 8: 47,644,979 (GRCm39) P891L probably damaging Het
Trbv12-1 T C 6: 41,090,972 (GRCm39) S115P probably damaging Het
Trpm1 A G 7: 63,884,800 (GRCm39) D827G probably benign Het
Ttll6 T A 11: 96,026,573 (GRCm39) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm39) C568F probably damaging Het
Usp29 A T 7: 6,965,155 (GRCm39) I333F probably benign Het
Vta1 G A 10: 14,581,138 (GRCm39) T23M probably damaging Het
Zswim8 A G 14: 20,773,325 (GRCm39) D1771G probably damaging Het
Other mutations in Dbnl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Dbnl APN 11 5,748,105 (GRCm39) missense probably benign
IGL01101:Dbnl APN 11 5,743,722 (GRCm39) missense possibly damaging 0.94
IGL01596:Dbnl APN 11 5,748,279 (GRCm39) missense probably damaging 1.00
IGL01924:Dbnl APN 11 5,747,142 (GRCm39) missense probably damaging 1.00
R0433:Dbnl UTSW 11 5,746,825 (GRCm39) critical splice donor site probably null
R0646:Dbnl UTSW 11 5,745,441 (GRCm39) splice site probably benign
R0656:Dbnl UTSW 11 5,747,321 (GRCm39) missense probably benign
R1037:Dbnl UTSW 11 5,746,807 (GRCm39) missense probably damaging 1.00
R1691:Dbnl UTSW 11 5,747,174 (GRCm39) missense probably null 0.12
R1883:Dbnl UTSW 11 5,749,247 (GRCm39) missense probably benign 0.01
R1884:Dbnl UTSW 11 5,749,247 (GRCm39) missense probably benign 0.01
R7033:Dbnl UTSW 11 5,748,102 (GRCm39) missense probably benign 0.44
R7541:Dbnl UTSW 11 5,745,486 (GRCm39) missense probably damaging 0.99
R7702:Dbnl UTSW 11 5,748,048 (GRCm39) missense probably benign
R7761:Dbnl UTSW 11 5,738,597 (GRCm39) missense probably benign 0.33
R7904:Dbnl UTSW 11 5,741,779 (GRCm39) splice site probably null
R8725:Dbnl UTSW 11 5,738,582 (GRCm39) missense probably benign 0.07
R8727:Dbnl UTSW 11 5,738,582 (GRCm39) missense probably benign 0.07
R8837:Dbnl UTSW 11 5,741,839 (GRCm39) missense possibly damaging 0.95
Z1088:Dbnl UTSW 11 5,746,797 (GRCm39) nonsense probably null
Posted On 2015-04-16