Incidental Mutation 'IGL02416:Bicdl1'
ID292452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bicdl1
Ensembl Gene ENSMUSG00000041609
Gene NameBICD family like cargo adaptor 1
Synonyms2210403N09Rik, Ccdc64, BICDR-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.331) question?
Stock #IGL02416
Quality Score
Status
Chromosome5
Chromosomal Location115648175-115731621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 115663885 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 38 (L38R)
Ref Sequence ENSEMBL: ENSMUSP00000119664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000148276]
Predicted Effect probably damaging
Transcript: ENSMUST00000055408
AA Change: L307R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: L307R

DomainStartEndE-ValueType
low complexity region 47 68 N/A INTRINSIC
Pfam:HAP1_N 97 162 2e-11 PFAM
low complexity region 305 316 N/A INTRINSIC
low complexity region 336 374 N/A INTRINSIC
low complexity region 389 410 N/A INTRINSIC
coiled coil region 467 529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117847
SMART Domains Protein: ENSMUSP00000114133
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 18 72 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148276
AA Change: L38R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: L38R

DomainStartEndE-ValueType
coiled coil region 1 110 N/A INTRINSIC
low complexity region 120 141 N/A INTRINSIC
coiled coil region 178 284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148627
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Bicdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Bicdl1 APN 5 115670156 nonsense probably null
IGL01902:Bicdl1 APN 5 115651874 missense probably damaging 1.00
IGL02417:Bicdl1 APN 5 115673158 missense probably damaging 1.00
IGL03088:Bicdl1 APN 5 115663822 missense possibly damaging 0.83
IGL03275:Bicdl1 APN 5 115731160 missense probably damaging 1.00
bargain UTSW 5 115670153 critical splice donor site probably null
R6807_Bicdl1_588 UTSW 5 115672143 critical splice donor site probably null
R0837:Bicdl1 UTSW 5 115731292 missense probably benign 0.06
R0924:Bicdl1 UTSW 5 115661528 splice site probably benign
R1581:Bicdl1 UTSW 5 115651267 unclassified probably benign
R1589:Bicdl1 UTSW 5 115651266 unclassified probably benign
R1669:Bicdl1 UTSW 5 115656016 missense possibly damaging 0.84
R2076:Bicdl1 UTSW 5 115655928 missense probably damaging 0.96
R2089:Bicdl1 UTSW 5 115724579 missense probably damaging 1.00
R2091:Bicdl1 UTSW 5 115724579 missense probably damaging 1.00
R2091:Bicdl1 UTSW 5 115724579 missense probably damaging 1.00
R4772:Bicdl1 UTSW 5 115661478 missense probably benign 0.36
R6185:Bicdl1 UTSW 5 115670153 critical splice donor site probably null
R6807:Bicdl1 UTSW 5 115672143 critical splice donor site probably null
R7107:Bicdl1 UTSW 5 115670170 missense probably benign 0.03
R7157:Bicdl1 UTSW 5 115651857 missense possibly damaging 0.92
R7205:Bicdl1 UTSW 5 115670281 missense probably damaging 1.00
R7485:Bicdl1 UTSW 5 115663786 nonsense probably null
R7781:Bicdl1 UTSW 5 115661487 missense probably damaging 1.00
Posted On2015-04-16