Incidental Mutation 'R2091:Bicdl1'
ID 500548
Institutional Source Beutler Lab
Gene Symbol Bicdl1
Ensembl Gene ENSMUSG00000041609
Gene Name BICD family like cargo adaptor 1
Synonyms 2210403N09Rik, BICDR-1, Ccdc64
MMRRC Submission 040096-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R2091 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115786234-115869680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115862638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 206 (S206P)
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: S206P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: S206P

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: S142P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: S142P

DomainStartEndE-ValueType
Pfam:HAP1_N 35 99 4.5e-11 PFAM
coiled coil region 192 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148840
Meta Mutation Damage Score 0.1699 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik G C 2: 19,522,357 (GRCm39) N247K probably damaging Het
4930402F06Rik T C 2: 35,266,079 (GRCm39) K197R probably benign Het
AA986860 T C 1: 130,670,906 (GRCm39) L376P probably benign Het
Adamts10 T C 17: 33,770,166 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,493 (GRCm39) probably null Het
Adgrl1 T C 8: 84,661,093 (GRCm39) I862T probably damaging Het
Agbl1 G A 7: 76,239,248 (GRCm39) V583M probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Arfgap2 A G 2: 91,100,586 (GRCm39) K297R probably benign Het
Armh3 A T 19: 45,941,119 (GRCm39) L300Q probably damaging Het
Atg14 A T 14: 47,780,352 (GRCm39) I474N probably damaging Het
Atp2b4 C A 1: 133,642,968 (GRCm39) V1046F probably benign Het
Best1 A G 19: 9,969,443 (GRCm39) V205A probably benign Het
Bltp1 T C 3: 37,008,119 (GRCm39) V1725A probably damaging Het
Bltp1 C T 3: 37,042,405 (GRCm39) T2797I probably damaging Het
Cacna1h C T 17: 25,651,850 (GRCm39) C98Y possibly damaging Het
Calhm3 T A 19: 47,140,430 (GRCm39) D221V probably damaging Het
Ccdc93 T A 1: 121,411,071 (GRCm39) probably null Het
Cd248 A T 19: 5,120,074 (GRCm39) I641F possibly damaging Het
Chrnb3 C T 8: 27,884,262 (GRCm39) T333M probably damaging Het
Cyb5rl A G 4: 106,928,203 (GRCm39) H113R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddx59 T A 1: 136,344,447 (GRCm39) D39E probably benign Het
Defa5 A G 8: 21,787,513 (GRCm39) D20G probably damaging Het
Dido1 A T 2: 180,303,677 (GRCm39) V1409E probably benign Het
Dlc1 A T 8: 37,404,763 (GRCm39) V342E probably benign Het
Dsc2 G A 18: 20,166,351 (GRCm39) T760I possibly damaging Het
Dync1h1 A G 12: 110,616,022 (GRCm39) I3057V probably benign Het
Etnk2 T G 1: 133,304,791 (GRCm39) probably null Het
Fbp2 G T 13: 63,006,021 (GRCm39) L31I probably damaging Het
Gbp7 A T 3: 142,240,383 (GRCm39) I34F probably damaging Het
Gcfc2 A G 6: 81,920,460 (GRCm39) E415G probably damaging Het
Glp1r T C 17: 31,144,523 (GRCm39) L232P probably damaging Het
Gm10822 A G 2: 73,729,619 (GRCm39) noncoding transcript Het
Gm42669 G A 5: 107,655,776 (GRCm39) V1192M probably benign Het
Gpr37 A G 6: 25,689,062 (GRCm39) S12P possibly damaging Het
Gpt A G 15: 76,582,176 (GRCm39) E211G possibly damaging Het
Grxcr1 T C 5: 68,267,755 (GRCm39) I168T probably damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Igkv8-30 A C 6: 70,094,070 (GRCm39) C114G probably damaging Het
Kcne4 T C 1: 78,795,624 (GRCm39) S91P probably benign Het
Kif5b G A 18: 6,213,248 (GRCm39) Q715* probably null Het
Lamb1 T A 12: 31,337,428 (GRCm39) N386K probably damaging Het
Lcmt2 T C 2: 120,969,097 (GRCm39) N662S probably damaging Het
Lnx1 G T 5: 74,780,727 (GRCm39) H324N probably benign Het
Lrrc4 T G 6: 28,830,586 (GRCm39) D343A probably benign Het
Mars1 A G 10: 127,135,154 (GRCm39) S646P probably damaging Het
Mboat7 T C 7: 3,687,010 (GRCm39) probably benign Het
Mlip C T 9: 77,072,145 (GRCm39) V341I possibly damaging Het
Mterf1b A T 5: 4,247,057 (GRCm39) T233S possibly damaging Het
Myo3a A T 2: 22,338,488 (GRCm39) H442L probably damaging Het
Myrf A T 19: 10,201,964 (GRCm39) V171D possibly damaging Het
Nbas G A 12: 13,411,046 (GRCm39) D897N probably benign Het
Nfx1 T C 4: 40,977,004 (GRCm39) V226A probably benign Het
Nlrp4a T C 7: 26,149,578 (GRCm39) L395P probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nsun6 A G 2: 15,044,542 (GRCm39) probably null Het
Ntrk2 A G 13: 59,007,115 (GRCm39) H239R possibly damaging Het
Or10g9 T C 9: 39,912,500 (GRCm39) T8A probably benign Het
Or4k51 A T 2: 111,584,731 (GRCm39) M46L probably benign Het
Or5aq7 T C 2: 86,938,606 (GRCm39) N42D probably damaging Het
Or5p70 A G 7: 107,995,068 (GRCm39) H247R probably damaging Het
Pate4 C A 9: 35,519,553 (GRCm39) A46S possibly damaging Het
Pcdhb18 T C 18: 37,623,653 (GRCm39) S328P probably damaging Het
Pdk4 A G 6: 5,494,857 (GRCm39) probably benign Het
Pigm T C 1: 172,205,100 (GRCm39) Y279H probably damaging Het
Plaat3 A G 19: 7,556,474 (GRCm39) I92V probably damaging Het
Plxdc2 A G 2: 16,718,494 (GRCm39) I379M probably damaging Het
Ppp1r35 A G 5: 137,778,156 (GRCm39) N217S possibly damaging Het
Prex1 G A 2: 166,411,285 (GRCm39) T1438I possibly damaging Het
Ptger4 T A 15: 5,272,326 (GRCm39) I98F possibly damaging Het
Rasl11a T A 5: 146,783,927 (GRCm39) I124N probably damaging Het
Rest A G 5: 77,429,126 (GRCm39) K515R possibly damaging Het
Ryr1 A G 7: 28,785,474 (GRCm39) L1746P probably damaging Het
Ryr2 G T 13: 11,960,863 (GRCm39) T25K probably benign Het
Sacs A T 14: 61,429,368 (GRCm39) I476L possibly damaging Het
Serpina3g A T 12: 104,205,417 (GRCm39) D52V probably damaging Het
Skint6 T C 4: 112,703,881 (GRCm39) N998S probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc10a4 G A 5: 73,174,482 (GRCm39) probably benign Het
Slc24a2 G T 4: 86,929,883 (GRCm39) P538T probably damaging Het
Sntg1 T A 1: 8,665,763 (GRCm39) T184S probably benign Het
Ssbp1 A G 6: 40,453,433 (GRCm39) Y73C probably null Het
St18 G A 1: 6,898,195 (GRCm39) V666M probably benign Het
Suclg1 A G 6: 73,241,259 (GRCm39) K193R probably benign Het
Tcp11l1 T C 2: 104,514,484 (GRCm39) I428V possibly damaging Het
Th T A 7: 142,449,280 (GRCm39) D275V probably damaging Het
Tnrc18 A C 5: 142,759,396 (GRCm39) S813R unknown Het
Tnrc6a T C 7: 122,771,343 (GRCm39) probably null Het
Trap1 A C 16: 3,863,903 (GRCm39) Y472* probably null Het
Trdv1 C A 14: 54,119,626 (GRCm39) Q96K probably benign Het
Trpm8 T C 1: 88,271,048 (GRCm39) I446T probably damaging Het
Tti2 T C 8: 31,644,294 (GRCm39) L297P probably damaging Het
Ttn C T 2: 76,565,355 (GRCm39) G26545R probably damaging Het
Ttn T C 2: 76,587,488 (GRCm39) D13208G probably damaging Het
Tubb3 A G 8: 124,148,417 (GRCm39) probably null Het
Umodl1 A G 17: 31,190,893 (GRCm39) M247V probably benign Het
Wrn T A 8: 33,757,853 (GRCm39) H812L probably benign Het
Zfp174 A G 16: 3,672,506 (GRCm39) R352G possibly damaging Het
Zfp955a T A 17: 33,461,731 (GRCm39) K134* probably null Het
Other mutations in Bicdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Bicdl1 APN 5 115,808,215 (GRCm39) nonsense probably null
IGL01902:Bicdl1 APN 5 115,789,933 (GRCm39) missense probably damaging 1.00
IGL02416:Bicdl1 APN 5 115,801,944 (GRCm39) missense probably damaging 1.00
IGL02417:Bicdl1 APN 5 115,811,217 (GRCm39) missense probably damaging 1.00
IGL03088:Bicdl1 APN 5 115,801,881 (GRCm39) missense possibly damaging 0.83
IGL03275:Bicdl1 APN 5 115,869,219 (GRCm39) missense probably damaging 1.00
bargain UTSW 5 115,808,212 (GRCm39) critical splice donor site probably null
R6807_Bicdl1_588 UTSW 5 115,810,202 (GRCm39) critical splice donor site probably null
R0837:Bicdl1 UTSW 5 115,869,351 (GRCm39) missense probably benign 0.06
R0924:Bicdl1 UTSW 5 115,799,587 (GRCm39) splice site probably benign
R1581:Bicdl1 UTSW 5 115,789,326 (GRCm39) unclassified probably benign
R1589:Bicdl1 UTSW 5 115,789,325 (GRCm39) unclassified probably benign
R1669:Bicdl1 UTSW 5 115,794,075 (GRCm39) missense possibly damaging 0.84
R2076:Bicdl1 UTSW 5 115,793,987 (GRCm39) missense probably damaging 0.96
R2089:Bicdl1 UTSW 5 115,862,638 (GRCm39) missense probably damaging 1.00
R2091:Bicdl1 UTSW 5 115,862,638 (GRCm39) missense probably damaging 1.00
R4772:Bicdl1 UTSW 5 115,799,537 (GRCm39) missense probably benign 0.36
R6185:Bicdl1 UTSW 5 115,808,212 (GRCm39) critical splice donor site probably null
R6807:Bicdl1 UTSW 5 115,810,202 (GRCm39) critical splice donor site probably null
R7107:Bicdl1 UTSW 5 115,808,229 (GRCm39) missense probably benign 0.03
R7157:Bicdl1 UTSW 5 115,789,916 (GRCm39) missense possibly damaging 0.92
R7205:Bicdl1 UTSW 5 115,808,340 (GRCm39) missense probably damaging 1.00
R7485:Bicdl1 UTSW 5 115,801,845 (GRCm39) nonsense probably null
R7781:Bicdl1 UTSW 5 115,799,546 (GRCm39) missense probably damaging 1.00
R8236:Bicdl1 UTSW 5 115,787,618 (GRCm39) missense probably benign 0.28
R8816:Bicdl1 UTSW 5 115,862,804 (GRCm39) missense probably damaging 1.00
R9320:Bicdl1 UTSW 5 115,862,769 (GRCm39) missense probably damaging 0.96
R9527:Bicdl1 UTSW 5 115,811,188 (GRCm39) missense possibly damaging 0.96
Predicted Primers
Posted On 2017-12-01