Incidental Mutation 'R7781:Bicdl1'
ID 599228
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 045837-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R7781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115786234-115869680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115799546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 181 (E181G)
Ref Sequence ENSEMBL: ENSMUSP00000119664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055408] [ENSMUST00000148276]
AlphaFold A0JNT9
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 damaging
Transcript: ENSMUST00000148276
AA Change: E181G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: E181G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik G A 3: 19,682,706 (GRCm39) P23S unknown Het
Abcc6 C T 7: 45,655,030 (GRCm39) R487Q probably damaging Het
Abl1 A T 2: 31,680,709 (GRCm39) T334S probably damaging Het
Adam6b T C 12: 113,454,962 (GRCm39) F593S probably damaging Het
Alx1 A T 10: 102,845,053 (GRCm39) M326K probably damaging Het
Ankhd1 A T 18: 36,758,258 (GRCm39) D984V probably damaging Het
Asb15 A G 6: 24,562,644 (GRCm39) N202S probably benign Het
Ate1 A T 7: 130,121,157 (GRCm39) V12E probably damaging Het
Atl2 A T 17: 80,167,260 (GRCm39) Y254N probably damaging Het
Atp13a5 A G 16: 29,116,226 (GRCm39) M630T probably benign Het
Atp5po A T 16: 91,723,417 (GRCm39) I124N possibly damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bnipl C A 3: 95,151,486 (GRCm39) W272L probably damaging Het
Catsperd A T 17: 56,971,072 (GRCm39) H712L probably benign Het
Cilp2 T C 8: 70,334,997 (GRCm39) D667G possibly damaging Het
Cntn4 A C 6: 106,500,575 (GRCm39) K351Q probably damaging Het
Coq7 A T 7: 118,125,111 (GRCm39) I171N probably damaging Het
Csf2rb T A 15: 78,228,771 (GRCm39) F371I probably benign Het
Cyp3a13 C T 5: 137,897,136 (GRCm39) V393M possibly damaging Het
Dennd2a A G 6: 39,470,000 (GRCm39) V564A probably damaging Het
Ear14 T C 14: 51,441,468 (GRCm39) L108P probably damaging Het
Egflam C A 15: 7,283,227 (GRCm39) V277F probably null Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Faap100 T C 11: 120,265,089 (GRCm39) M596V probably benign Het
Fbxw15 T A 9: 109,386,330 (GRCm39) T270S possibly damaging Het
Gabpb1 C T 2: 126,481,120 (GRCm39) C342Y possibly damaging Het
Gls A T 1: 52,251,492 (GRCm39) C288* probably null Het
Grm8 G T 6: 27,285,786 (GRCm39) D875E probably benign Het
Hdac4 C A 1: 91,903,387 (GRCm39) R514L probably benign Het
Hps4 T A 5: 112,518,388 (GRCm39) N460K probably benign Het
Inpp5d T C 1: 87,627,394 (GRCm39) F565S probably damaging Het
Kcnh5 C A 12: 75,023,455 (GRCm39) V538F probably damaging Het
Kcp T C 6: 29,497,764 (GRCm39) N499S probably damaging Het
Klk15 T C 7: 43,588,980 (GRCm39) L244S probably benign Het
Lamp3 A T 16: 19,518,440 (GRCm39) S266T possibly damaging Het
Lemd3 A G 10: 120,761,678 (GRCm39) F863L probably damaging Het
Mga T A 2: 119,747,838 (GRCm39) V663D probably damaging Het
Naa15 A G 3: 51,378,904 (GRCm39) probably null Het
Ndrg3 C A 2: 156,770,733 (GRCm39) G352* probably null Het
Nr2f6 G T 8: 71,828,595 (GRCm39) N233K possibly damaging Het
Or4a79 A G 2: 89,551,879 (GRCm39) F192S probably benign Het
Plxnb2 T A 15: 89,041,225 (GRCm39) M1774L possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl23a G A 11: 78,073,654 (GRCm39) R62W probably benign Het
Rubcnl A G 14: 75,269,530 (GRCm39) R63G probably damaging Het
Ryr1 T C 7: 28,767,055 (GRCm39) D2976G probably damaging Het
Siglec1 A G 2: 130,923,258 (GRCm39) Y496H probably damaging Het
Sipa1l2 A G 8: 126,218,566 (GRCm39) V257A possibly damaging Het
Slc24a4 T C 12: 102,201,112 (GRCm39) probably null Het
Slc4a1ap T C 5: 31,684,822 (GRCm39) S153P probably damaging Het
Slc4a4 A T 5: 89,376,791 (GRCm39) E1006V possibly damaging Het
Svep1 T G 4: 58,069,251 (GRCm39) E2845A possibly damaging Het
Tlr1 T C 5: 65,084,079 (GRCm39) N166S possibly damaging Het
Tmem231 C T 8: 112,644,922 (GRCm39) probably null Het
Tsc2 C A 17: 24,827,089 (GRCm39) L873F possibly damaging Het
Unc13b T G 4: 43,259,546 (GRCm39) S1403A possibly damaging Het
Vmn1r7 A G 6: 57,001,553 (GRCm39) F236L probably benign Het
Vmn2r111 T C 17: 22,789,714 (GRCm39) S431G probably benign Het
Wdr7 A T 18: 63,910,860 (GRCm39) K751* probably null Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zcchc2 T C 1: 105,931,895 (GRCm39) Y366H probably damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp607a C T 7: 27,565,000 (GRCm39) R56C possibly damaging 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
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
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 PCR Primer
(F):5'- CATTAGGTAAAGGCCCCGTG -3'
(R):5'- TAAGGAAGATGCCAGTGCTTTTG -3'

Sequencing Primer
(F):5'- GCACACTCTCTGCACTGTGAAAC -3'
(R):5'- GTTTGTAGCGCGCGCAG -3'
Posted On 2019-11-26