Incidental Mutation 'IGL03256:Bicd1'
ID414647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bicd1
Ensembl Gene ENSMUSG00000003452
Gene NameBICD cargo adaptor 1
SynonymsB830009D06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03256
Quality Score
Status
Chromosome6
Chromosomal Location149408886-149563329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 149513585 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 599 (T599S)
Ref Sequence ENSEMBL: ENSMUSP00000133727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003544] [ENSMUST00000086829] [ENSMUST00000111513] [ENSMUST00000172926] [ENSMUST00000173408]
Predicted Effect probably benign
Transcript: ENSMUST00000003544
AA Change: T599S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: T599S

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:BicD 74 799 N/A PFAM
low complexity region 807 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086829
AA Change: T599S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: T599S

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:BicD 74 799 N/A PFAM
low complexity region 807 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111513
AA Change: T599S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: T599S

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:BicD 74 799 N/A PFAM
low complexity region 807 822 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172926
SMART Domains Protein: ENSMUSP00000133986
Gene: ENSMUSG00000003452

DomainStartEndE-ValueType
Pfam:BicD 1 98 1.2e-69 PFAM
low complexity region 103 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173408
AA Change: T599S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: T599S

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:BicD 74 799 N/A PFAM
low complexity region 807 820 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174886
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 72,445,199 T150I probably benign Het
4932438A13Rik T C 3: 36,906,683 probably benign Het
Adam2 T C 14: 66,053,831 N333D probably benign Het
Aifm3 G A 16: 17,506,310 R578Q probably benign Het
Arid2 C A 15: 96,370,762 Q919K probably benign Het
Atp6v1a T C 16: 44,111,088 probably benign Het
Catsperg2 T A 7: 29,709,874 R601W probably damaging Het
Clca2 A C 3: 145,086,392 S369R possibly damaging Het
Cyfip1 T G 7: 55,907,434 V795G possibly damaging Het
Ddb1 A G 19: 10,621,861 T544A probably benign Het
Defb43 T C 14: 63,017,880 I54T probably damaging Het
Dera A G 6: 137,779,645 M89V probably benign Het
Fam227b T A 2: 125,989,003 K427I probably damaging Het
Frk A G 10: 34,607,842 I400V probably benign Het
Gk5 T A 9: 96,129,053 L72H probably damaging Het
Gprc6a T A 10: 51,628,349 Y133F possibly damaging Het
Hecw1 G T 13: 14,280,485 L662M probably benign Het
Hecw1 A G 13: 14,280,484 L662P probably damaging Het
Il12b T A 11: 44,407,930 S71T probably benign Het
Kdm2a A T 19: 4,345,510 probably benign Het
Lhfp A G 3: 53,043,553 R83G possibly damaging Het
Magel2 C A 7: 62,380,414 T1022K unknown Het
Mycbp2 C A 14: 103,188,589 V2367F possibly damaging Het
Nap1l3 C T X: 122,396,208 G271D probably benign Het
Nars2 T A 7: 97,039,910 D346E possibly damaging Het
Nek11 T A 9: 105,244,414 E435D probably damaging Het
Nfam1 C T 15: 83,010,410 G205R probably benign Het
Olfr1474 T A 19: 13,471,267 M99K probably damaging Het
Olfr395 A T 11: 73,906,696 N265K probably benign Het
Olfr433 T C 1: 174,042,208 L86P probably damaging Het
Otud3 G A 4: 138,909,617 R78W probably damaging Het
Oxct2a C T 4: 123,322,965 A208T probably damaging Het
Pcdh11x A T X: 120,400,910 E683D probably benign Het
Phtf2 C A 5: 20,803,252 V144L probably damaging Het
Pkn2 T C 3: 142,803,550 probably null Het
Puf60 T A 15: 76,070,596 D459V possibly damaging Het
Ralgapa2 A G 2: 146,460,712 probably null Het
Rapgef6 A C 11: 54,657,429 Q813P probably damaging Het
Rsf1 A T 7: 97,679,004 D1071V possibly damaging Het
Sctr T C 1: 120,031,559 probably benign Het
Serpini1 A G 3: 75,619,174 I244M probably benign Het
Tada2a C A 11: 84,087,192 probably benign Het
Tada3 A T 6: 113,375,131 H112Q possibly damaging Het
Tnxb T A 17: 34,688,720 L1246Q probably damaging Het
Txndc16 T C 14: 45,151,896 N449S probably damaging Het
Usp34 T A 11: 23,420,090 Y1771* probably null Het
Vav2 A T 2: 27,271,900 probably null Het
Virma T C 4: 11,542,207 probably benign Het
Vmn1r78 T A 7: 12,152,798 I112N probably damaging Het
Vnn3 A T 10: 23,851,800 probably benign Het
Other mutations in Bicd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Bicd1 APN 6 149550390 missense possibly damaging 0.72
IGL02489:Bicd1 APN 6 149513037 missense probably damaging 1.00
IGL02626:Bicd1 APN 6 149409556 missense probably damaging 1.00
IGL02966:Bicd1 APN 6 149483996 missense probably damaging 0.99
R0123:Bicd1 UTSW 6 149512950 missense probably benign 0.00
R0131:Bicd1 UTSW 6 149512947 missense probably damaging 0.99
R0134:Bicd1 UTSW 6 149512950 missense probably benign 0.00
R0225:Bicd1 UTSW 6 149512950 missense probably benign 0.00
R0267:Bicd1 UTSW 6 149517042 missense probably damaging 1.00
R0481:Bicd1 UTSW 6 149511891 missense possibly damaging 0.90
R0560:Bicd1 UTSW 6 149511962 missense probably benign 0.34
R0729:Bicd1 UTSW 6 149512914 missense probably damaging 0.97
R0784:Bicd1 UTSW 6 149513363 missense probably damaging 0.98
R1994:Bicd1 UTSW 6 149513552 missense probably benign 0.00
R2221:Bicd1 UTSW 6 149517005 missense probably damaging 0.98
R2762:Bicd1 UTSW 6 149520403 missense probably damaging 0.99
R3428:Bicd1 UTSW 6 149512902 missense probably damaging 1.00
R3805:Bicd1 UTSW 6 149518991 missense probably damaging 1.00
R3806:Bicd1 UTSW 6 149518991 missense probably damaging 1.00
R3807:Bicd1 UTSW 6 149518991 missense probably damaging 1.00
R4694:Bicd1 UTSW 6 149409553 missense probably damaging 1.00
R4822:Bicd1 UTSW 6 149519254 intron probably benign
R4835:Bicd1 UTSW 6 149484090 missense probably benign 0.00
R5157:Bicd1 UTSW 6 149520414 missense probably benign 0.09
R5527:Bicd1 UTSW 6 149494636 missense probably damaging 1.00
R5611:Bicd1 UTSW 6 149513456 nonsense probably null
R5643:Bicd1 UTSW 6 149520403 missense probably damaging 0.99
R5644:Bicd1 UTSW 6 149520403 missense probably damaging 0.99
R5788:Bicd1 UTSW 6 149484000 missense probably benign 0.39
R5898:Bicd1 UTSW 6 149513703 missense probably damaging 0.99
R6222:Bicd1 UTSW 6 149512965 missense probably damaging 1.00
R6227:Bicd1 UTSW 6 149513176 nonsense probably null
R6522:Bicd1 UTSW 6 149484005 missense probably benign
R6781:Bicd1 UTSW 6 149513166 missense possibly damaging 0.86
R6812:Bicd1 UTSW 6 149409537 missense probably damaging 1.00
R7010:Bicd1 UTSW 6 149494615 missense probably damaging 1.00
R7203:Bicd1 UTSW 6 149512905 missense possibly damaging 0.91
R7265:Bicd1 UTSW 6 149513876 missense probably damaging 1.00
R7362:Bicd1 UTSW 6 149484093 missense probably benign 0.13
R7526:Bicd1 UTSW 6 149513726 missense possibly damaging 0.46
R7545:Bicd1 UTSW 6 149513492 missense probably benign
Posted On2016-08-02