Incidental Mutation 'R8816:Bicdl1'
ID 672728
Institutional Source Beutler Lab
Gene Symbol Bicdl1
Ensembl Gene ENSMUSG00000041609
Gene Name BICD family like cargo adaptor 1
Synonyms 2210403N09Rik, Ccdc64, BICDR-1
MMRRC Submission 068726-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R8816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115648175-115731621 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115724745 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 150 (Q150H)
Ref Sequence ENSEMBL: ENSMUSP00000053547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000141950]
AlphaFold A0JNT9
Predicted Effect probably damaging
Transcript: ENSMUST00000055408
AA Change: Q150H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Q150H

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 probably damaging
Transcript: ENSMUST00000141950
AA Change: Q86H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: Q86H

DomainStartEndE-ValueType
Pfam:HAP1_N 35 99 4.5e-11 PFAM
coiled coil region 192 236 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,236,687 (GRCm38) H348L probably benign Het
Alpk1 A T 3: 127,684,375 (GRCm38) Y74* probably null Het
Ass1 T C 2: 31,493,177 (GRCm38) probably benign Het
Atp8b4 C T 2: 126,372,164 (GRCm38) probably benign Het
Atrn C A 2: 130,906,878 (GRCm38) N106K probably damaging Het
Atrn T C 2: 131,004,574 (GRCm38) V1256A probably damaging Het
Cdhr4 T C 9: 107,995,592 (GRCm38) V280A possibly damaging Het
Cfap54 C T 10: 92,878,592 (GRCm38) V2642I unknown Het
Chd2 T C 7: 73,490,497 (GRCm38) H661R probably damaging Het
Cntnap2 A G 6: 46,856,142 (GRCm38) D763G possibly damaging Het
Csnk1g2 T C 10: 80,638,259 (GRCm38) C160R probably damaging Het
Cyb5r4 T C 9: 87,022,233 (GRCm38) S19P probably benign Het
Cyp4a30b G A 4: 115,452,637 (GRCm38) V12M probably benign Het
Dpp6 C T 5: 27,725,713 (GRCm38) P848S probably benign Het
Dzip1 T C 14: 118,922,373 (GRCm38) Y141C probably benign Het
Eif2b3 C A 4: 117,070,855 (GRCm38) Q424K probably benign Het
Fbxw14 G A 9: 109,276,237 (GRCm38) R287* probably null Het
Fcgbp T G 7: 28,084,987 (GRCm38) S157R probably benign Het
Fmnl2 T G 2: 53,114,202 (GRCm38) V642G unknown Het
Gpr119 C T X: 48,673,399 (GRCm38) R287Q possibly damaging Het
Grm7 C T 6: 111,254,005 (GRCm38) T463I possibly damaging Het
Haus4 G A 14: 54,542,253 (GRCm38) R305C probably benign Het
Htr1f A G 16: 64,926,174 (GRCm38) S252P probably benign Het
Ino80b T C 6: 83,121,880 (GRCm38) Q359R probably damaging Het
Itgad C A 7: 128,198,370 (GRCm38) Y924* probably null Het
Itpr2 A G 6: 146,241,212 (GRCm38) Y1703H probably damaging Het
Kif5c T A 2: 49,694,787 (GRCm38) V174E probably damaging Het
Kifc2 A G 15: 76,664,171 (GRCm38) E405G probably damaging Het
Klk1b3 T C 7: 44,202,244 (GRCm38) V242A possibly damaging Het
Kndc1 T C 7: 139,937,996 (GRCm38) F1615S probably damaging Het
Lmtk2 T A 5: 144,175,975 (GRCm38) L1171* probably null Het
Myh10 A G 11: 68,802,952 (GRCm38) E1530G probably damaging Het
Nav3 T A 10: 109,863,860 (GRCm38) S258C possibly damaging Het
Nudcd3 C T 11: 6,150,587 (GRCm38) G186S probably damaging Het
Olfr1411 T A 1: 92,597,046 (GRCm38) C176S probably damaging Het
Otog C T 7: 46,301,481 (GRCm38) S374F possibly damaging Het
P2ry2 T A 7: 100,998,556 (GRCm38) I181F possibly damaging Het
Pde11a T C 2: 76,291,233 (GRCm38) I335V probably benign Het
Phyhip A C 14: 70,466,935 (GRCm38) D198A probably damaging Het
Pik3r5 A T 11: 68,494,234 (GRCm38) Y655F probably damaging Het
Rab6a T C 7: 100,629,938 (GRCm38) I95T possibly damaging Het
Sgsm1 T C 5: 113,287,231 (GRCm38) E99G probably damaging Het
Skint10 A T 4: 112,746,695 (GRCm38) F98L probably benign Het
Slc35c2 A G 2: 165,277,458 (GRCm38) S321P probably benign Het
Smyd1 T A 6: 71,215,884 (GRCm38) E447V probably damaging Het
Smyd4 T C 11: 75,390,406 (GRCm38) V235A probably benign Het
Sod2 A G 17: 13,008,366 (GRCm38) Y69C probably benign Het
Spns1 G A 7: 126,372,421 (GRCm38) S319F possibly damaging Het
Tfap2b A G 1: 19,214,113 (GRCm38) S82G probably benign Het
Tln2 A G 9: 67,221,517 (GRCm38) I1430T probably damaging Het
Tln2 C A 9: 67,221,411 (GRCm38) E1465D possibly damaging Het
Trio G T 15: 27,741,271 (GRCm38) N2680K probably damaging Het
Trmt10c A T 16: 56,034,159 (GRCm38) V371D probably damaging Het
Trpm3 T C 19: 22,988,216 (GRCm38) S1692P probably damaging Het
Uhrf1bp1l T C 10: 89,790,735 (GRCm38) probably benign Het
Usb1 G T 8: 95,345,356 (GRCm38) C228F probably benign Het
Veph1 G T 3: 66,158,225 (GRCm38) H474N probably benign Het
Wls A G 3: 159,934,292 (GRCm38) T520A possibly damaging Het
Ywhae T C 11: 75,733,052 (GRCm38) Y9H probably damaging Het
Zranb3 C T 1: 128,036,610 (GRCm38) V127M possibly damaging Het
Other mutations in Bicdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Bicdl1 APN 5 115,670,156 (GRCm38) nonsense probably null
IGL01902:Bicdl1 APN 5 115,651,874 (GRCm38) missense probably damaging 1.00
IGL02416:Bicdl1 APN 5 115,663,885 (GRCm38) missense probably damaging 1.00
IGL02417:Bicdl1 APN 5 115,673,158 (GRCm38) missense probably damaging 1.00
IGL03088:Bicdl1 APN 5 115,663,822 (GRCm38) missense possibly damaging 0.83
IGL03275:Bicdl1 APN 5 115,731,160 (GRCm38) missense probably damaging 1.00
bargain UTSW 5 115,670,153 (GRCm38) critical splice donor site probably null
R6807_Bicdl1_588 UTSW 5 115,672,143 (GRCm38) critical splice donor site probably null
R0837:Bicdl1 UTSW 5 115,731,292 (GRCm38) missense probably benign 0.06
R0924:Bicdl1 UTSW 5 115,661,528 (GRCm38) splice site probably benign
R1581:Bicdl1 UTSW 5 115,651,267 (GRCm38) unclassified probably benign
R1589:Bicdl1 UTSW 5 115,651,266 (GRCm38) unclassified probably benign
R1669:Bicdl1 UTSW 5 115,656,016 (GRCm38) missense possibly damaging 0.84
R2076:Bicdl1 UTSW 5 115,655,928 (GRCm38) missense probably damaging 0.96
R2089:Bicdl1 UTSW 5 115,724,579 (GRCm38) missense probably damaging 1.00
R2091:Bicdl1 UTSW 5 115,724,579 (GRCm38) missense probably damaging 1.00
R2091:Bicdl1 UTSW 5 115,724,579 (GRCm38) missense probably damaging 1.00
R4772:Bicdl1 UTSW 5 115,661,478 (GRCm38) missense probably benign 0.36
R6185:Bicdl1 UTSW 5 115,670,153 (GRCm38) critical splice donor site probably null
R6807:Bicdl1 UTSW 5 115,672,143 (GRCm38) critical splice donor site probably null
R7107:Bicdl1 UTSW 5 115,670,170 (GRCm38) missense probably benign 0.03
R7157:Bicdl1 UTSW 5 115,651,857 (GRCm38) missense possibly damaging 0.92
R7205:Bicdl1 UTSW 5 115,670,281 (GRCm38) missense probably damaging 1.00
R7485:Bicdl1 UTSW 5 115,663,786 (GRCm38) nonsense probably null
R7781:Bicdl1 UTSW 5 115,661,487 (GRCm38) missense probably damaging 1.00
R8236:Bicdl1 UTSW 5 115,649,559 (GRCm38) missense probably benign 0.28
R9320:Bicdl1 UTSW 5 115,724,710 (GRCm38) missense probably damaging 0.96
R9527:Bicdl1 UTSW 5 115,673,129 (GRCm38) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGACTCACCCTGCTGAGTTG -3'
(R):5'- ACAAGTCCTGTGTTCTAGAAGAG -3'

Sequencing Primer
(F):5'- ACCCTGCTGAGTTGGTCCAG -3'
(R):5'- TGAATTGGGCAACATGCC -3'
Posted On 2021-04-30