Incidental Mutation 'IGL03275:Bicdl1'
ID 415404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bicdl1
Ensembl Gene ENSMUSG00000041609
Gene Name BICD family like cargo adaptor 1
Synonyms 2210403N09Rik, BICDR-1, Ccdc64
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # IGL03275
Quality Score
Status
Chromosome 5
Chromosomal Location 115786234-115869680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115869219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 134 (Y134H)
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: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Y134H

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: Y70H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: Y70H

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 73,198,968 (GRCm39) L125H probably damaging Het
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
Aspm T A 1: 139,415,033 (GRCm39) I1438N probably damaging Het
Btnl1 A T 17: 34,604,486 (GRCm39) K422N probably damaging Het
Ccdc158 T A 5: 92,777,491 (GRCm39) I941F probably benign Het
Crnn A G 3: 93,056,725 (GRCm39) K504E possibly damaging Het
Csmd1 T A 8: 16,207,106 (GRCm39) I1308L probably benign Het
Cwf19l1 T C 19: 44,111,696 (GRCm39) M246V probably benign Het
Desi1 T A 15: 81,887,963 (GRCm39) I36F probably damaging Het
Foxf2 A G 13: 31,810,514 (GRCm39) N151S probably damaging Het
Fryl A G 5: 73,305,376 (GRCm39) V35A possibly damaging Het
Ftdc1 T C 16: 58,436,119 (GRCm39) Y68C probably damaging Het
Gabrg3 T C 7: 56,423,095 (GRCm39) Y201C probably damaging Het
Grb10 T A 11: 11,883,591 (GRCm39) T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 (GRCm39) *371W probably null Het
Irf7 C A 7: 140,845,059 (GRCm39) R49L probably damaging Het
Itpr2 T C 6: 146,060,375 (GRCm39) probably benign Het
Jam3 T C 9: 27,012,545 (GRCm39) T201A probably damaging Het
Msantd5f6 T A 4: 73,321,653 (GRCm39) R127S possibly damaging Het
Mst1 T C 9: 107,961,587 (GRCm39) S606P possibly damaging Het
Or5p59 T A 7: 107,702,815 (GRCm39) C100S probably damaging Het
Otog A G 7: 45,955,654 (GRCm39) E2800G probably damaging Het
Ptpro C T 6: 137,427,004 (GRCm39) P292S probably damaging Het
Rab10 A T 12: 3,306,959 (GRCm39) Y79N probably damaging Het
Rc3h1 T C 1: 160,787,125 (GRCm39) probably null Het
Slc2a3 C T 6: 122,713,701 (GRCm39) probably null Het
Sptbn2 T C 19: 4,782,689 (GRCm39) Y542H possibly damaging Het
Tas2r110 T C 6: 132,845,061 (GRCm39) F31L probably damaging Het
Thoc2l T A 5: 104,666,143 (GRCm39) C222S probably benign Het
Ttn A G 2: 76,547,688 (GRCm39) S32161P probably damaging Het
Ttn A G 2: 76,775,451 (GRCm39) S1864P probably damaging Het
Vmn1r228 A G 17: 20,997,104 (GRCm39) I138T probably damaging Het
Vmn2r10 T A 5: 109,151,243 (GRCm39) T124S probably benign 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
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
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
Posted On 2016-08-02