Incidental Mutation 'R0225:Bicd1'
ID 33850
Institutional Source Beutler Lab
Gene Symbol Bicd1
Ensembl Gene ENSMUSG00000003452
Gene Name BICD cargo adaptor 1
Synonyms B830009D06Rik
MMRRC Submission 038470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0225 (G1)
Quality Score 197
Status Validated
Chromosome 6
Chromosomal Location 149310384-149464827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149414448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 387 (I387T)
Ref Sequence ENSEMBL: ENSMUSP00000133727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003544] [ENSMUST00000086829] [ENSMUST00000111513] [ENSMUST00000172926] [ENSMUST00000173408]
AlphaFold Q8BR07
Predicted Effect probably benign
Transcript: ENSMUST00000003544
AA Change: I387T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: I387T

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: I387T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: I387T

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: I387T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: I387T

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: I387T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: I387T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Arhgap23 G T 11: 97,335,154 (GRCm39) V70L probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Col18a1 T C 10: 76,924,748 (GRCm39) S14G possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Dele1 G A 18: 38,394,317 (GRCm39) V505I probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Esyt2 A G 12: 116,331,330 (GRCm39) N736S probably damaging Het
F11 T C 8: 45,702,114 (GRCm39) T267A probably benign Het
Fam234b T G 6: 135,194,072 (GRCm39) S242A possibly damaging Het
Gadd45b A G 10: 80,766,181 (GRCm39) N11S probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Gm10647 A G 9: 66,705,777 (GRCm39) probably benign Het
Gm10936 G A 10: 117,084,035 (GRCm39) noncoding transcript Het
Gzmd A G 14: 56,367,161 (GRCm39) W244R probably damaging Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Ighv15-2 T G 12: 114,528,657 (GRCm39) probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgae A C 11: 73,002,168 (GRCm39) M91L probably benign Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kat2b A G 17: 53,948,238 (GRCm39) E336G probably damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif23 C G 9: 61,832,976 (GRCm39) probably benign Het
Lgi3 A T 14: 70,770,261 (GRCm39) I109L probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lipo4 A G 19: 33,479,006 (GRCm39) V278A probably benign Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Map9 G A 3: 82,267,290 (GRCm39) probably benign Het
Miox C T 15: 89,218,657 (GRCm39) probably benign Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or4k5 T G 14: 50,386,092 (GRCm39) K80Q probably damaging Het
Or8d1b A G 9: 38,887,574 (GRCm39) I201V probably benign Het
Or8k53 T C 2: 86,178,072 (GRCm39) I13V possibly damaging Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Prickle1 A G 15: 93,408,658 (GRCm39) L47P possibly damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rapgef2 A T 3: 79,011,412 (GRCm39) S224R probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Siglecg G A 7: 43,060,595 (GRCm39) G325D probably damaging Het
Skor2 A T 18: 76,946,793 (GRCm39) I172F unknown Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
St14 T A 9: 31,019,580 (GRCm39) probably null Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tbxa2r C A 10: 81,168,734 (GRCm39) T141K possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Tyms A G 5: 30,268,256 (GRCm39) I148T probably damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn1r58 A C 7: 5,413,865 (GRCm39) S122A probably benign Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Wfdc8 A G 2: 164,439,105 (GRCm39) Y426H probably benign Het
Zfp948 A T 17: 21,807,556 (GRCm39) K249N probably damaging Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zyg11a G A 4: 108,061,838 (GRCm39) T321I 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
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
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'- TGGCTTTTCCCTGAAGTGATTCAGAC -3'
(R):5'- GGCTATGCCAGTCATCTTTTGCAAC -3'

Sequencing Primer
(F):5'- ATTCAGACATTGTCTTCTGTCATTAC -3'
(R):5'- GATGTCTTCTCAAGGTTTGTCAC -3'
Posted On 2013-05-09