Incidental Mutation 'R7265:Bicd1'
ID 564868
Institutional Source Beutler Lab
Gene Symbol Bicd1
Ensembl Gene ENSMUSG00000003452
Gene Name BICD cargo adaptor 1
Synonyms B830009D06Rik
MMRRC Submission 045355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 149310384-149464827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149415374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 696 (K696E)
Ref Sequence ENSEMBL: ENSMUSP00000084039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003544] [ENSMUST00000086829] [ENSMUST00000111513] [ENSMUST00000172926] [ENSMUST00000173408]
AlphaFold Q8BR07
Predicted Effect probably damaging
Transcript: ENSMUST00000003544
AA Change: K696E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: K696E

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 damaging
Transcript: ENSMUST00000086829
AA Change: K696E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: K696E

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 damaging
Transcript: ENSMUST00000111513
AA Change: K696E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: K696E

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 damaging
Transcript: ENSMUST00000173408
AA Change: K696E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: K696E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Elapor2 T C 5: 9,496,975 (GRCm39) V813A possibly damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Epb41 T C 4: 131,695,145 (GRCm39) E14G unknown Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Lctl T A 9: 64,034,203 (GRCm39) Y281N probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Trpc1 T C 9: 95,590,328 (GRCm39) M710V probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E probably benign Het
Other mutations in Bicd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Bicd1 APN 6 149,451,888 (GRCm39) missense possibly damaging 0.72
IGL02489:Bicd1 APN 6 149,414,535 (GRCm39) missense probably damaging 1.00
IGL02626:Bicd1 APN 6 149,311,054 (GRCm39) missense probably damaging 1.00
IGL02966:Bicd1 APN 6 149,385,494 (GRCm39) missense probably damaging 0.99
IGL03256:Bicd1 APN 6 149,415,083 (GRCm39) missense probably benign
R0123:Bicd1 UTSW 6 149,414,448 (GRCm39) missense probably benign 0.00
R0131:Bicd1 UTSW 6 149,414,445 (GRCm39) missense probably damaging 0.99
R0134:Bicd1 UTSW 6 149,414,448 (GRCm39) missense probably benign 0.00
R0225:Bicd1 UTSW 6 149,414,448 (GRCm39) missense probably benign 0.00
R0267:Bicd1 UTSW 6 149,418,540 (GRCm39) missense probably damaging 1.00
R0481:Bicd1 UTSW 6 149,413,389 (GRCm39) missense possibly damaging 0.90
R0560:Bicd1 UTSW 6 149,413,460 (GRCm39) missense probably benign 0.34
R0729:Bicd1 UTSW 6 149,414,412 (GRCm39) missense probably damaging 0.97
R0784:Bicd1 UTSW 6 149,414,861 (GRCm39) missense probably damaging 0.98
R1994:Bicd1 UTSW 6 149,415,050 (GRCm39) missense probably benign 0.00
R2221:Bicd1 UTSW 6 149,418,503 (GRCm39) missense probably damaging 0.98
R2762:Bicd1 UTSW 6 149,421,901 (GRCm39) missense probably damaging 0.99
R3428:Bicd1 UTSW 6 149,414,400 (GRCm39) missense probably damaging 1.00
R3805:Bicd1 UTSW 6 149,420,489 (GRCm39) missense probably damaging 1.00
R3806:Bicd1 UTSW 6 149,420,489 (GRCm39) missense probably damaging 1.00
R3807:Bicd1 UTSW 6 149,420,489 (GRCm39) missense probably damaging 1.00
R4694:Bicd1 UTSW 6 149,311,051 (GRCm39) missense probably damaging 1.00
R4822:Bicd1 UTSW 6 149,420,752 (GRCm39) intron probably benign
R4835:Bicd1 UTSW 6 149,385,588 (GRCm39) missense probably benign 0.00
R5157:Bicd1 UTSW 6 149,421,912 (GRCm39) missense probably benign 0.09
R5527:Bicd1 UTSW 6 149,396,134 (GRCm39) missense probably damaging 1.00
R5611:Bicd1 UTSW 6 149,414,954 (GRCm39) nonsense probably null
R5643:Bicd1 UTSW 6 149,421,901 (GRCm39) missense probably damaging 0.99
R5644:Bicd1 UTSW 6 149,421,901 (GRCm39) missense probably damaging 0.99
R5788:Bicd1 UTSW 6 149,385,498 (GRCm39) missense probably benign 0.39
R5898:Bicd1 UTSW 6 149,415,201 (GRCm39) missense probably damaging 0.99
R6222:Bicd1 UTSW 6 149,414,463 (GRCm39) missense probably damaging 1.00
R6227:Bicd1 UTSW 6 149,414,674 (GRCm39) nonsense probably null
R6522:Bicd1 UTSW 6 149,385,503 (GRCm39) missense probably benign
R6781:Bicd1 UTSW 6 149,414,664 (GRCm39) missense possibly damaging 0.86
R6812:Bicd1 UTSW 6 149,311,035 (GRCm39) missense probably damaging 1.00
R7010:Bicd1 UTSW 6 149,396,113 (GRCm39) missense probably damaging 1.00
R7203:Bicd1 UTSW 6 149,414,403 (GRCm39) missense possibly damaging 0.91
R7362:Bicd1 UTSW 6 149,385,591 (GRCm39) missense probably benign 0.13
R7526:Bicd1 UTSW 6 149,415,224 (GRCm39) missense possibly damaging 0.46
R7545:Bicd1 UTSW 6 149,414,990 (GRCm39) missense probably benign
R7581:Bicd1 UTSW 6 149,420,502 (GRCm39) missense probably damaging 1.00
R7589:Bicd1 UTSW 6 149,415,165 (GRCm39) missense possibly damaging 0.61
R7639:Bicd1 UTSW 6 149,414,502 (GRCm39) missense possibly damaging 0.92
R7715:Bicd1 UTSW 6 149,414,471 (GRCm39) missense probably benign 0.11
R8188:Bicd1 UTSW 6 149,451,854 (GRCm39) missense probably damaging 0.98
R8271:Bicd1 UTSW 6 149,414,633 (GRCm39) missense probably benign 0.00
R8338:Bicd1 UTSW 6 149,414,621 (GRCm39) missense probably benign 0.00
R8375:Bicd1 UTSW 6 149,421,989 (GRCm39) missense probably benign
R8696:Bicd1 UTSW 6 149,415,285 (GRCm39) missense probably damaging 1.00
R8770:Bicd1 UTSW 6 149,420,448 (GRCm39) missense probably damaging 1.00
R9116:Bicd1 UTSW 6 149,385,674 (GRCm39) missense probably benign 0.00
R9505:Bicd1 UTSW 6 149,385,522 (GRCm39) missense probably benign 0.02
R9513:Bicd1 UTSW 6 149,414,391 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAAGCATCTGCAGAAGGC -3'
(R):5'- GCTTCAGTTTTGACTCAAGTACAC -3'

Sequencing Primer
(F):5'- CAGAAGGCAGTGGACAGGTC -3'
(R):5'- GGCAGCAATGCACCTTTATC -3'
Posted On 2019-06-26