Incidental Mutation 'IGL02417:Bicdl1'
ID292477
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: 0.398) question?
Stock #IGL02417
Quality Score
Status
Chromosome5
Chromosomal Location115648175-115731621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115673158 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 231 (H231Q)
Ref Sequence ENSEMBL: ENSMUSP00000053547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000141950] [ENSMUST00000148276]
Predicted Effect probably damaging
Transcript: ENSMUST00000055408
AA Change: H231Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: H231Q

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 benign
Transcript: ENSMUST00000141950
AA Change: H167Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: H167Q

DomainStartEndE-ValueType
Pfam:HAP1_N 35 99 4.5e-11 PFAM
coiled coil region 192 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148276
SMART Domains Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,518,353 N702K probably damaging Het
Atm T C 9: 53,479,695 T1860A probably benign Het
C2cd5 A C 6: 143,041,492 D470E probably damaging Het
Chd5 T C 4: 152,367,294 F688L probably damaging Het
Cul3 T C 1: 80,322,902 Y74C probably damaging Het
Dhx16 A G 17: 35,892,537 E1042G probably damaging Het
Dnah11 A G 12: 118,057,180 L1966P probably damaging Het
Dpy19l1 A T 9: 24,475,386 I204N possibly damaging Het
Drd2 T C 9: 49,402,259 probably benign Het
Fasn A G 11: 120,820,340 V228A probably damaging Het
Fggy T C 4: 95,849,609 W148R probably benign Het
Gm9631 G A 11: 121,943,652 Het
Gpr89 A T 3: 96,897,425 Y38* probably null Het
H2-M1 G A 17: 36,672,134 H22Y possibly damaging Het
Kdm3b T A 18: 34,808,577 S574T probably benign Het
Kmt2c C T 5: 25,373,020 V753I probably benign Het
Lcn9 T C 2: 25,823,680 F73L possibly damaging Het
Lnpep T C 17: 17,544,903 T762A possibly damaging Het
Lrp2 C T 2: 69,461,305 C3510Y probably damaging Het
Nlrp3 T A 11: 59,566,023 probably benign Het
Olfr1469 A G 19: 13,410,895 T109A possibly damaging Het
Olfr292 A G 7: 86,694,819 Y121C probably damaging Het
Olfr347 A T 2: 36,734,344 I8F probably benign Het
Pcnx3 A T 19: 5,686,481 V176E possibly damaging Het
Phlpp1 T C 1: 106,392,714 S1480P probably benign Het
Ppfia3 T C 7: 45,341,717 R1027G probably damaging Het
Rnf216 A G 5: 143,068,910 Y628H possibly damaging Het
Sh3bp1 G A 15: 78,901,499 R4Q probably damaging Het
Skint9 A G 4: 112,414,138 probably benign Het
Slc25a51 A G 4: 45,400,074 S39P probably benign Het
Smarca4 C T 9: 21,701,090 R1558C probably damaging Het
Spag9 A G 11: 94,116,741 S1224G probably benign Het
Spdl1 G T 11: 34,813,354 Q551K probably benign Het
Sugt1 A G 14: 79,610,258 I183V probably benign Het
Th G A 7: 142,899,906 S19L probably damaging Het
Tmprss11g A G 5: 86,490,891 V246A probably benign Het
Tnfaip8l2 T C 3: 95,140,403 T50A probably benign Het
Tox3 G T 8: 90,258,131 T140K possibly damaging Het
Unc50 T A 1: 37,437,450 Y205* probably null Het
Vmn2r83 A T 10: 79,479,047 K376N probably benign 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
IGL02416:Bicdl1 APN 5 115663885 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