Incidental Mutation 'R1589:Bicdl1'
ID 177714
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 039626-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R1589 (G1)
Quality Score 158
Status Not validated
Chromosome 5
Chromosomal Location 115648175-115731621 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 115651266 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031492] [ENSMUST00000055408] [ENSMUST00000118576] [ENSMUST00000121746] [ENSMUST00000141976] [ENSMUST00000141976] [ENSMUST00000148276]
AlphaFold A0JNT9
Predicted Effect probably benign
Transcript: ENSMUST00000031492
SMART Domains Protein: ENSMUSP00000031492
Gene: ENSMUSG00000029518

DomainStartEndE-ValueType
RAB 9 171 5.07e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055408
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609

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 benign
Transcript: ENSMUST00000118576
SMART Domains Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121746
SMART Domains Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141976
Predicted Effect probably benign
Transcript: ENSMUST00000141976
Predicted Effect probably benign
Transcript: ENSMUST00000148276
SMART Domains Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 1 110 N/A INTRINSIC
low complexity region 120 141 N/A INTRINSIC
coiled coil region 178 284 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201869
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik A G 3: 6,620,441 (GRCm38) probably benign Het
Aadacl2 C T 3: 60,010,576 (GRCm38) T82I probably benign Het
Acadl T C 1: 66,853,223 (GRCm38) N147S probably benign Het
Actr3 A T 1: 125,408,563 (GRCm38) M79K probably damaging Het
Agbl3 A G 6: 34,857,517 (GRCm38) S874G possibly damaging Het
Aoah A T 13: 21,002,948 (GRCm38) T472S probably damaging Het
Asb16 A T 11: 102,268,995 (GRCm38) D58V probably damaging Het
B4galt1 T C 4: 40,823,575 (GRCm38) D172G probably benign Het
Bax T C 7: 45,465,247 (GRCm38) N55S possibly damaging Het
Bdkrb2 A G 12: 105,591,859 (GRCm38) N120D possibly damaging Het
Cand1 A G 10: 119,213,566 (GRCm38) L425P probably damaging Het
Caskin1 G A 17: 24,505,478 (GRCm38) probably null Het
Cd248 C T 19: 5,069,932 (GRCm38) P603S probably benign Het
Cep95 G T 11: 106,800,104 (GRCm38) R143L probably benign Het
Clptm1l G T 13: 73,614,673 (GRCm38) probably null Het
Cntnap5a T C 1: 116,060,200 (GRCm38) F154L possibly damaging Het
Cyld A T 8: 88,709,990 (GRCm38) I303F possibly damaging Het
Dock2 A G 11: 34,706,461 (GRCm38) S370P probably damaging Het
Enah G T 1: 181,922,293 (GRCm38) T327K probably damaging Het
Farp2 A T 1: 93,579,860 (GRCm38) S427C probably damaging Het
Fbxw11 C T 11: 32,733,612 (GRCm38) T301M probably damaging Het
Foxc2 A T 8: 121,117,176 (GRCm38) T188S probably benign Het
Fzd2 A G 11: 102,606,328 (GRCm38) T533A probably benign Het
Glb1l2 G T 9: 26,769,038 (GRCm38) S248* probably null Het
Glul A T 1: 153,905,538 (GRCm38) probably benign Het
Gm28042 A G 2: 120,041,406 (GRCm38) T946A probably benign Het
Golga3 T A 5: 110,181,783 (GRCm38) D2E probably damaging Het
Grm1 A T 10: 10,719,967 (GRCm38) F639Y probably benign Het
Gzmn A G 14: 56,165,911 (GRCm38) L247P probably benign Het
Hgf T G 5: 16,613,785 (GRCm38) I525R probably damaging Het
Hnrnpul2 T A 19: 8,831,332 (GRCm38) D719E probably benign Het
Itga10 C T 3: 96,651,738 (GRCm38) probably benign Het
Itga9 T C 9: 118,607,117 (GRCm38) probably null Het
Itgb1 T A 8: 128,705,458 (GRCm38) C16S probably damaging Het
Itgb1 G T 8: 128,705,459 (GRCm38) C16F possibly damaging Het
Kat14 A G 2: 144,394,100 (GRCm38) I251V probably benign Het
Kdsr A T 1: 106,734,541 (GRCm38) probably null Het
Kif12 T A 4: 63,166,500 (GRCm38) E527V probably benign Het
Larp1b T C 3: 41,033,474 (GRCm38) S44P probably damaging Het
Lonp2 T C 8: 86,673,072 (GRCm38) probably benign Het
Lrp1 C T 10: 127,605,606 (GRCm38) S216N probably benign Het
Lrrc19 T C 4: 94,640,950 (GRCm38) S32G probably benign Het
Mdm2 G A 10: 117,690,529 (GRCm38) T335M probably benign Het
Mettl25 A G 10: 105,779,632 (GRCm38) Y504H probably damaging Het
Mill1 T C 7: 18,245,647 (GRCm38) I13T probably benign Het
Mmachc T A 4: 116,703,524 (GRCm38) Q258L probably benign Het
Mpdz T A 4: 81,421,176 (GRCm38) I5L probably benign Het
Mrps2 C T 2: 28,469,488 (GRCm38) A119V probably benign Het
Mtmr11 A G 3: 96,168,113 (GRCm38) T370A probably benign Het
Nmi T C 2: 51,958,977 (GRCm38) I34V possibly damaging Het
Obscn A T 11: 59,036,075 (GRCm38) M5538K possibly damaging Het
Ogdhl T C 14: 32,325,865 (GRCm38) I24T probably benign Het
Olfr1477 C T 19: 13,502,757 (GRCm38) T138M probably benign Het
Olfr675 A G 7: 105,024,560 (GRCm38) V140A probably benign Het
Olfr703 A G 7: 106,845,196 (GRCm38) Y195C possibly damaging Het
Olfr816 A G 10: 129,911,681 (GRCm38) V199A probably benign Het
Omp G T 7: 98,145,359 (GRCm38) D20E probably benign Het
Otog A G 7: 46,283,908 (GRCm38) H1291R probably benign Het
Pgbd1 A G 13: 21,423,292 (GRCm38) L244P probably damaging Het
Ranbp2 A G 10: 58,463,986 (GRCm38) I481V probably benign Het
Rbp3 A T 14: 33,955,792 (GRCm38) I566F probably damaging Het
Rsph4a A G 10: 33,905,529 (GRCm38) D125G probably benign Het
Scn11a A G 9: 119,769,807 (GRCm38) V1219A probably damaging Het
Serpine3 G A 14: 62,674,381 (GRCm38) G264D probably benign Het
Slc4a10 T C 2: 62,257,462 (GRCm38) F400L probably damaging Het
Slco1a4 C T 6: 141,845,447 (GRCm38) V8I probably benign Het
Soga1 A T 2: 157,027,637 (GRCm38) M1026K probably benign Het
Spen T C 4: 141,488,024 (GRCm38) D499G unknown Het
Stk32c A G 7: 139,119,015 (GRCm38) probably null Het
Tars A G 15: 11,388,175 (GRCm38) V485A probably benign Het
Tcerg1l A G 7: 138,361,767 (GRCm38) L258P probably damaging Het
Tmc2 A T 2: 130,247,960 (GRCm38) I622F probably damaging Het
Tmem183a A T 1: 134,354,706 (GRCm38) N220K probably damaging Het
Tnni3 T C 7: 4,520,526 (GRCm38) D146G probably damaging Het
Trappc11 G T 8: 47,501,680 (GRCm38) D908E probably damaging Het
Trappc8 A G 18: 20,863,551 (GRCm38) Y436H probably damaging Het
Ttc41 G A 10: 86,776,390 (GRCm38) V1176I probably benign Het
Ube2b A G 11: 51,997,872 (GRCm38) V24A probably benign Het
Usp30 T C 5: 114,112,961 (GRCm38) C233R probably damaging Het
Vmn1r87 T A 7: 13,131,776 (GRCm38) T195S possibly damaging Het
Vmn2r24 T C 6: 123,806,520 (GRCm38) probably benign Het
Vmn2r81 C A 10: 79,293,024 (GRCm38) T583N probably damaging Het
Vwa8 C T 14: 78,908,230 (GRCm38) R116C probably damaging Het
Wdr1 C A 5: 38,529,972 (GRCm38) V239L probably benign Het
Wdr17 C T 8: 54,703,907 (GRCm38) probably benign Het
Zfhx4 A C 3: 5,241,729 (GRCm38) D5A probably damaging Het
Zfyve27 T C 19: 42,171,745 (GRCm38) probably null 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
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
R8816:Bicdl1 UTSW 5 115,724,745 (GRCm38) missense probably damaging 1.00
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
Posted On 2014-04-24