Incidental Mutation 'IGL01759:BC030867'
ID 278855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC030867
Ensembl Gene ENSMUSG00000034773
Gene Name cDNA sequence BC030867
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.588) question?
Stock # IGL01759
Quality Score
Status
Chromosome 11
Chromosomal Location 102248882-102265187 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102255596 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 233 (C233R)
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
AlphaFold Q32P12
Predicted Effect probably benign
Transcript: ENSMUST00000100392
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: C233R

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 458 541 4.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133930
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: C233R

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 457 542 3.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152897
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 (GRCm38) D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 (GRCm38) I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 (GRCm38) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm38) V313L probably damaging Het
Car2 G A 3: 14,895,628 (GRCm38) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm38) probably benign Het
Cep295 A G 9: 15,323,559 (GRCm38) probably null Het
Cep97 T C 16: 55,930,573 (GRCm38) K27E probably damaging Het
Cops5 A T 1: 10,027,249 (GRCm38) N258K probably damaging Het
Dchs1 T A 7: 105,755,302 (GRCm38) T2678S probably benign Het
Dnah10 T A 5: 124,755,786 (GRCm38) F861Y probably benign Het
Dock10 T C 1: 80,526,273 (GRCm38) E1777G probably damaging Het
Dock5 G A 14: 67,881,259 (GRCm38) Q23* probably null Het
Ermp1 T C 19: 29,615,836 (GRCm38) K752R probably benign Het
Fam160a1 A C 3: 85,688,447 (GRCm38) I377S probably damaging Het
Gjd2 T A 2: 114,011,106 (GRCm38) I297L probably benign Het
Gm1123 T C 9: 99,023,254 (GRCm38) M68V probably benign Het
Gm28372 C T 2: 130,406,898 (GRCm38) R59W probably damaging Het
Gm9912 A C 3: 149,185,438 (GRCm38) F20V unknown Het
Gpat2 T C 2: 127,430,896 (GRCm38) F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 (GRCm38) H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 (GRCm38) D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 (GRCm38) Q331L probably damaging Het
Kif5b A G 18: 6,225,647 (GRCm38) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm38) probably benign Het
Krt14 A T 11: 100,204,416 (GRCm38) probably benign Het
L3mbtl3 A G 10: 26,331,900 (GRCm38) F307S unknown Het
Laptm4a T C 12: 8,934,687 (GRCm38) probably benign Het
Marveld3 T C 8: 109,948,087 (GRCm38) S366G possibly damaging Het
Mga C A 2: 119,951,195 (GRCm38) T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 (GRCm38) N54S probably benign Het
Mras T C 9: 99,411,495 (GRCm38) I31V probably damaging Het
Myh1 A G 11: 67,219,906 (GRCm38) D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 (GRCm38) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 (GRCm38) W273L probably benign Het
Nol9 C T 4: 152,046,043 (GRCm38) probably benign Het
Nrxn2 T C 19: 6,509,929 (GRCm38) V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 (GRCm38) F238I probably damaging Het
Olfr523 T C 7: 140,176,534 (GRCm38) I138T probably benign Het
Olfr694 T C 7: 106,689,333 (GRCm38) T133A probably benign Het
Olfr774 T A 10: 129,239,072 (GRCm38) F308I probably benign Het
Olfr971 T A 9: 39,839,611 (GRCm38) M59K probably damaging Het
Pappa T C 4: 65,205,158 (GRCm38) probably null Het
Pfkl A G 10: 78,000,731 (GRCm38) S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 (GRCm38) G191D probably damaging Het
Pikfyve T C 1: 65,253,353 (GRCm38) V1276A probably benign Het
Pla2g4c T A 7: 13,348,316 (GRCm38) Y486N probably damaging Het
Rasal2 C A 1: 157,175,932 (GRCm38) V386L probably benign Het
S1pr3 G A 13: 51,419,512 (GRCm38) R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 (GRCm38) D208G probably benign Het
Slc6a4 T C 11: 77,013,288 (GRCm38) S190P probably damaging Het
Snapc5 A T 9: 64,180,497 (GRCm38) probably null Het
Tbc1d14 C A 5: 36,571,569 (GRCm38) R151L probably damaging Het
Tecpr2 T A 12: 110,931,392 (GRCm38) probably benign Het
Tmem219 G A 7: 126,897,138 (GRCm38) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,353,447 (GRCm38) K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 (GRCm38) I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 (GRCm38) T457I probably benign Het
Vps13b A G 15: 35,878,789 (GRCm38) E2978G probably damaging Het
Zfr A G 15: 12,159,655 (GRCm38) D679G probably damaging Het
Zhx3 T C 2: 160,780,714 (GRCm38) N511S probably damaging Het
Other mutations in BC030867
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:BC030867 APN 11 102,255,957 (GRCm38) missense possibly damaging 0.95
IGL01645:BC030867 APN 11 102,255,186 (GRCm38) missense probably damaging 1.00
IGL01750:BC030867 APN 11 102,254,951 (GRCm38) splice site probably benign
IGL01760:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL01761:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL01762:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL01764:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL01769:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL01778:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL02156:BC030867 APN 11 102,255,039 (GRCm38) missense probably damaging 1.00
IGL02159:BC030867 APN 11 102,260,165 (GRCm38) critical splice donor site probably null
IGL02284:BC030867 APN 11 102,255,596 (GRCm38) missense probably benign
IGL02522:BC030867 APN 11 102,257,920 (GRCm38) missense possibly damaging 0.94
IGL02989:BC030867 APN 11 102,255,299 (GRCm38) missense probably benign 0.00
R2376:BC030867 UTSW 11 102,250,716 (GRCm38) missense probably benign 0.05
R2504:BC030867 UTSW 11 102,255,296 (GRCm38) missense possibly damaging 0.48
R3731:BC030867 UTSW 11 102,257,906 (GRCm38) missense possibly damaging 0.95
R5566:BC030867 UTSW 11 102,255,833 (GRCm38) missense probably damaging 0.99
R5774:BC030867 UTSW 11 102,255,669 (GRCm38) missense possibly damaging 0.82
R5864:BC030867 UTSW 11 102,255,146 (GRCm38) missense probably benign 0.00
R6013:BC030867 UTSW 11 102,255,033 (GRCm38) missense probably benign 0.00
R6250:BC030867 UTSW 11 102,255,062 (GRCm38) missense probably benign
R7264:BC030867 UTSW 11 102,255,596 (GRCm38) missense probably benign 0.00
R8013:BC030867 UTSW 11 102,257,899 (GRCm38) missense probably benign 0.02
R8014:BC030867 UTSW 11 102,257,899 (GRCm38) missense probably benign 0.02
R8266:BC030867 UTSW 11 102,262,220 (GRCm38) missense possibly damaging 0.94
R8770:BC030867 UTSW 11 102,255,150 (GRCm38) missense probably benign 0.00
R8982:BC030867 UTSW 11 102,255,284 (GRCm38) missense probably benign 0.22
R9058:BC030867 UTSW 11 102,255,560 (GRCm38) missense probably benign 0.03
R9498:BC030867 UTSW 11 102,259,341 (GRCm38) missense probably benign 0.03
R9646:BC030867 UTSW 11 102,255,760 (GRCm38) missense possibly damaging 0.84
R9647:BC030867 UTSW 11 102,255,760 (GRCm38) missense possibly damaging 0.84
R9766:BC030867 UTSW 11 102,255,760 (GRCm38) missense possibly damaging 0.84
X0062:BC030867 UTSW 11 102,255,755 (GRCm38) missense possibly damaging 0.89
X0065:BC030867 UTSW 11 102,250,727 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16