Incidental Mutation 'IGL03061:BC016579'
ID 409461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC016579
Ensembl Gene ENSMUSG00000033187
Gene Name cDNA sequence, BC016579
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03061
Quality Score
Status
Chromosome 16
Chromosomal Location 45447211-45474431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45449849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 190 (G190S)
Ref Sequence ENSEMBL: ENSMUSP00000037651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036732]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000036732
AA Change: G190S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037651
Gene: ENSMUSG00000033187
AA Change: G190S

DomainStartEndE-ValueType
transmembrane domain 67 89 N/A INTRINSIC
low complexity region 123 135 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in BC016579
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02818:BC016579 APN 16 45,449,865 (GRCm39) missense probably damaging 0.99
BB003:BC016579 UTSW 16 45,449,825 (GRCm39) missense probably damaging 1.00
BB013:BC016579 UTSW 16 45,449,825 (GRCm39) missense probably damaging 1.00
R0026:BC016579 UTSW 16 45,460,730 (GRCm39) missense probably benign 0.02
R0026:BC016579 UTSW 16 45,460,730 (GRCm39) missense probably benign 0.02
R0763:BC016579 UTSW 16 45,449,818 (GRCm39) missense probably damaging 0.97
R3424:BC016579 UTSW 16 45,449,846 (GRCm39) missense probably damaging 0.97
R3751:BC016579 UTSW 16 45,453,361 (GRCm39) splice site probably null
R4512:BC016579 UTSW 16 45,453,363 (GRCm39) missense possibly damaging 0.61
R5447:BC016579 UTSW 16 45,469,252 (GRCm39) missense probably benign 0.00
R5508:BC016579 UTSW 16 45,453,369 (GRCm39) missense possibly damaging 0.59
R7926:BC016579 UTSW 16 45,449,825 (GRCm39) missense probably damaging 1.00
R9707:BC016579 UTSW 16 45,460,760 (GRCm39) missense probably damaging 0.99
Z1088:BC016579 UTSW 16 45,474,311 (GRCm39) missense probably benign 0.06
Z1177:BC016579 UTSW 16 45,469,259 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02