Incidental Mutation 'R8770:Bicd1'
ID 664342
Institutional Source Beutler Lab
Gene Symbol Bicd1
Ensembl Gene ENSMUSG00000003452
Gene Name BICD cargo adaptor 1
Synonyms B830009D06Rik
MMRRC Submission 068625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8770 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 149310384-149464827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149420448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 766 (L766S)
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: L766S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: L766S

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: L766S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: L766S

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: L766S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: L766S

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
SMART Domains Protein: ENSMUSP00000133986
Gene: ENSMUSG00000003452
AA Change: L65S

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: L766S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: L766S

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (66/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T C 17: 14,104,199 (GRCm39) probably null Het
Aox1 A T 1: 58,378,763 (GRCm39) K1004M probably benign Het
Atn1 C T 6: 124,722,601 (GRCm39) probably null Het
Atp8b4 T C 2: 126,184,915 (GRCm39) Y916C probably damaging Het
Bmpr2 T G 1: 59,884,684 (GRCm39) D223E probably benign Het
Bpifc T G 10: 85,801,129 (GRCm39) R406S probably damaging Het
Ccl6 A G 11: 83,479,658 (GRCm39) I115T possibly damaging Het
Cdcp1 A T 9: 123,006,926 (GRCm39) I607N possibly damaging Het
Cdyl2 T C 8: 117,321,822 (GRCm39) Y235C probably damaging Het
Clns1a A G 7: 97,363,117 (GRCm39) Q163R probably benign Het
Cntn3 T A 6: 102,254,277 (GRCm39) M222L possibly damaging Het
Cpn1 A G 19: 43,952,208 (GRCm39) V358A probably damaging Het
Dchs1 G A 7: 105,420,945 (GRCm39) R492W probably damaging Het
Dmxl2 T C 9: 54,311,298 (GRCm39) T1808A probably benign Het
Dnah10 A G 5: 124,852,410 (GRCm39) I1880V possibly damaging Het
Dnai3 T C 3: 145,752,298 (GRCm39) T793A probably benign Het
Dscam T C 16: 96,456,106 (GRCm39) E1274G possibly damaging Het
Dtwd1 A G 2: 125,996,727 (GRCm39) T71A probably damaging Het
Dusp4 T A 8: 35,274,938 (GRCm39) M19K probably benign Het
Fbxo39 T C 11: 72,209,285 (GRCm39) F382L probably damaging Het
Fbxw20 A T 9: 109,046,596 (GRCm39) C455S probably benign Het
Fcmr T A 1: 130,803,799 (GRCm39) V201E probably benign Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gpr156 A G 16: 37,824,974 (GRCm39) E397G possibly damaging Het
Gzmf A T 14: 56,443,951 (GRCm39) V73D probably damaging Het
Hrob A G 11: 102,145,976 (GRCm39) N84S probably benign Het
Laptm4b T C 15: 34,258,843 (GRCm39) V39A possibly damaging Het
Mlf2 C A 6: 124,911,259 (GRCm39) H91Q probably benign Het
Mylk3 T A 8: 86,091,460 (GRCm39) E115V probably damaging Het
Myo6 A G 9: 80,171,481 (GRCm39) E494G unknown Het
Myo7b C T 18: 32,114,124 (GRCm39) D1076N probably benign Het
Neurl1b A G 17: 26,650,887 (GRCm39) D53G probably damaging Het
Noc4l A G 5: 110,796,758 (GRCm39) L508P possibly damaging Het
Nup210l C A 3: 90,025,850 (GRCm39) F157L probably damaging Het
Ogdh T C 11: 6,305,336 (GRCm39) Y959H probably damaging Het
Or13c7d T G 4: 43,770,813 (GRCm39) N66T probably damaging Het
Or4a73 A G 2: 89,421,171 (GRCm39) M96T probably benign Het
Pik3ap1 A G 19: 41,316,599 (GRCm39) Y264H possibly damaging Het
Plb1 T C 5: 32,404,853 (GRCm39) Y4H unknown Het
Rad21 A G 15: 51,831,749 (GRCm39) I444T probably benign Het
Recql5 T C 11: 115,787,943 (GRCm39) I459V probably benign Het
Scaf1 T C 7: 44,656,129 (GRCm39) T917A unknown Het
Sdc4 C T 2: 164,270,822 (GRCm39) V146I probably damaging Het
Serpina6 T C 12: 103,620,198 (GRCm39) S184G probably benign Het
Shkbp1 C A 7: 27,051,311 (GRCm39) R218S possibly damaging Het
Slc17a3 A G 13: 24,039,607 (GRCm39) D255G Het
Slc7a2 T G 8: 41,352,267 (GRCm39) V110G probably damaging Het
Slf1 A C 13: 77,194,766 (GRCm39) V853G probably damaging Het
Smarcad1 T C 6: 65,029,718 (GRCm39) V102A probably benign Het
Sobp T C 10: 43,036,788 (GRCm39) K50R probably damaging Het
Spink10 A T 18: 62,786,532 (GRCm39) R47S probably benign Het
Sspo T A 6: 48,451,206 (GRCm39) F2720Y probably null Het
Tdrkh T A 3: 94,336,440 (GRCm39) V459D probably damaging Het
Tent5a A G 9: 85,208,803 (GRCm39) Y7H probably benign Het
Tlcd2 T A 11: 75,360,630 (GRCm39) D224E probably damaging Het
Tln2 T A 9: 67,230,304 (GRCm39) Q87L probably benign Het
Tmem131 A T 1: 36,838,186 (GRCm39) probably benign Het
Tmem63a G A 1: 180,789,961 (GRCm39) G378R probably benign Het
Trank1 C A 9: 111,219,892 (GRCm39) Q2210K probably benign Het
Trim24 T A 6: 37,934,435 (GRCm39) probably benign Het
Trim37 T A 11: 87,050,675 (GRCm39) I238N probably damaging Het
Vps39 A T 2: 120,153,548 (GRCm39) D675E probably benign Het
Zfp229 T A 17: 21,964,795 (GRCm39) C342S probably damaging Het
Zfp759 A G 13: 67,288,417 (GRCm39) H656R probably damaging Het
Zfp994 T C 17: 22,419,980 (GRCm39) Y323C probably damaging 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
R7265:Bicd1 UTSW 6 149,415,374 (GRCm39) missense probably damaging 1.00
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
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'- ATGTCCCTGATGAGGCTTAAATG -3'
(R):5'- CTTACTTTAGGGCTGCCGATC -3'

Sequencing Primer
(F):5'- GGGTAAGAGAGGAATACCTTT -3'
(R):5'- TAGGGCTGCCGATCTTGCTC -3'
Posted On 2021-03-08