Incidental Mutation 'IGL02115:BC034090'
ID 280353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC034090
Ensembl Gene ENSMUSG00000033722
Gene Name cDNA sequence BC034090
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02115
Quality Score
Status
Chromosome 1
Chromosomal Location 155088217-155120190 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 155108397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]
AlphaFold A0A087WP46
Predicted Effect probably benign
Transcript: ENSMUST00000035914
SMART Domains Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:DUF4685 44 168 6.6e-57 PFAM
low complexity region 486 500 N/A INTRINSIC
low complexity region 562 568 N/A INTRINSIC
low complexity region 640 652 N/A INTRINSIC
PDZ 830 905 4.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186082
Predicted Effect probably benign
Transcript: ENSMUST00000186156
SMART Domains Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722

DomainStartEndE-ValueType
low complexity region 446 463 N/A INTRINSIC
low complexity region 779 793 N/A INTRINSIC
low complexity region 855 861 N/A INTRINSIC
low complexity region 933 945 N/A INTRINSIC
PDZ 1123 1198 2.2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187096
SMART Domains Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722

DomainStartEndE-ValueType
low complexity region 84 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192162
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 124,930,781 (GRCm39) noncoding transcript Het
Abca7 A T 10: 79,833,913 (GRCm39) N76Y probably damaging Het
Apob A G 12: 8,042,923 (GRCm39) K755R probably benign Het
Brinp1 T C 4: 68,680,635 (GRCm39) T632A probably benign Het
Cdcp1 C A 9: 123,014,462 (GRCm39) C104F probably damaging Het
Cfap206 C T 4: 34,722,623 (GRCm39) V153I possibly damaging Het
Chd1l A T 3: 97,497,220 (GRCm39) probably null Het
Ckb A G 12: 111,636,415 (GRCm39) F271L possibly damaging Het
Col6a3 T A 1: 90,735,373 (GRCm39) I759L probably damaging Het
Ddr2 A T 1: 169,822,278 (GRCm39) M390K probably benign Het
Dhx8 C T 11: 101,643,214 (GRCm39) P762L probably damaging Het
Dnah3 A T 7: 119,628,277 (GRCm39) V1449E probably damaging Het
Dzip3 T C 16: 48,768,848 (GRCm39) I629M probably benign Het
Ep300 T C 15: 81,533,019 (GRCm39) I1692T unknown Het
Ercc6 T A 14: 32,298,950 (GRCm39) L1446Q probably damaging Het
Gm10092 T C 16: 35,957,993 (GRCm39) noncoding transcript Het
Gm6900 A T 7: 10,390,503 (GRCm39) noncoding transcript Het
Gpr149 T C 3: 62,502,336 (GRCm39) T507A probably benign Het
Hmcn1 T A 1: 150,506,479 (GRCm39) D3776V probably damaging Het
Irgm2 A G 11: 58,110,948 (GRCm39) E225G probably benign Het
Kif14 T C 1: 136,424,305 (GRCm39) probably benign Het
Klhl22 T C 16: 17,594,459 (GRCm39) V196A probably damaging Het
Lig4 T C 8: 10,023,247 (GRCm39) S178G possibly damaging Het
Lzts2 A G 19: 45,014,809 (GRCm39) probably benign Het
Mcoln3 C T 3: 145,843,056 (GRCm39) S380L probably damaging Het
Med12l A T 3: 58,975,740 (GRCm39) T223S probably benign Het
Mrpl54 A G 10: 81,101,483 (GRCm39) probably null Het
Myo1c A T 11: 75,552,417 (GRCm39) I397F probably damaging Het
Nbas A T 12: 13,367,693 (GRCm39) probably benign Het
Ncoa2 G A 1: 13,223,041 (GRCm39) H1195Y probably damaging Het
Nol3 A G 8: 106,006,263 (GRCm39) M171V probably benign Het
Or2l5 A T 16: 19,333,853 (GRCm39) C178S probably damaging Het
Or52s1 A G 7: 102,861,681 (GRCm39) T194A probably damaging Het
Pdpr C T 8: 111,830,630 (GRCm39) L107F probably damaging Het
Ppfibp2 G A 7: 107,338,525 (GRCm39) probably benign Het
Rusc2 T C 4: 43,426,136 (GRCm39) probably benign Het
Sdk2 G T 11: 113,725,639 (GRCm39) probably benign Het
Sema7a T C 9: 57,868,183 (GRCm39) C539R probably damaging Het
Senp6 T C 9: 80,029,208 (GRCm39) C524R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc15a1 A T 14: 121,718,073 (GRCm39) Y269N possibly damaging Het
Synj2 T A 17: 6,067,865 (GRCm39) Y113N probably damaging Het
Tm6sf1 A T 7: 81,525,551 (GRCm39) Y172F probably damaging Het
Trpv4 T C 5: 114,763,090 (GRCm39) D773G probably damaging Het
Ttc39a A G 4: 109,283,491 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,676 (GRCm39) R588W probably damaging Het
Unc79 A T 12: 102,964,933 (GRCm39) Y74F probably damaging Het
Usp53 A T 3: 122,741,039 (GRCm39) I737K probably benign Het
Vmn2r67 A T 7: 84,800,787 (GRCm39) M383K probably damaging Het
Zc3h4 A G 7: 16,159,708 (GRCm39) D426G unknown Het
Zfp622 A G 15: 25,987,286 (GRCm39) N308S probably damaging Het
Other mutations in BC034090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:BC034090 APN 1 155,101,193 (GRCm39) missense possibly damaging 0.95
IGL00159:BC034090 APN 1 155,101,197 (GRCm39) nonsense probably null
IGL00481:BC034090 APN 1 155,108,267 (GRCm39) missense probably benign 0.04
IGL01309:BC034090 APN 1 155,102,130 (GRCm39) missense probably damaging 0.98
IGL01813:BC034090 APN 1 155,102,085 (GRCm39) nonsense probably null
IGL01938:BC034090 APN 1 155,108,338 (GRCm39) splice site probably null
IGL01982:BC034090 APN 1 155,099,078 (GRCm39) missense probably damaging 1.00
IGL02338:BC034090 APN 1 155,093,217 (GRCm39) missense probably damaging 1.00
IGL02406:BC034090 APN 1 155,100,899 (GRCm39) missense probably benign 0.00
IGL03243:BC034090 APN 1 155,101,401 (GRCm39) missense possibly damaging 0.71
IGL03290:BC034090 APN 1 155,101,856 (GRCm39) missense probably damaging 1.00
BB004:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
BB014:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R0055:BC034090 UTSW 1 155,117,404 (GRCm39) missense probably damaging 1.00
R1436:BC034090 UTSW 1 155,101,662 (GRCm39) missense probably benign 0.04
R1649:BC034090 UTSW 1 155,101,319 (GRCm39) missense possibly damaging 0.72
R1710:BC034090 UTSW 1 155,101,610 (GRCm39) missense possibly damaging 0.82
R1819:BC034090 UTSW 1 155,101,575 (GRCm39) missense possibly damaging 0.58
R1969:BC034090 UTSW 1 155,100,972 (GRCm39) missense possibly damaging 0.90
R1996:BC034090 UTSW 1 155,097,340 (GRCm39) unclassified probably benign
R2012:BC034090 UTSW 1 155,097,178 (GRCm39) missense probably damaging 0.98
R2133:BC034090 UTSW 1 155,101,532 (GRCm39) missense probably benign 0.27
R3426:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3427:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3428:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3782:BC034090 UTSW 1 155,102,024 (GRCm39) missense probably damaging 1.00
R3792:BC034090 UTSW 1 155,117,543 (GRCm39) missense probably damaging 0.98
R4234:BC034090 UTSW 1 155,117,326 (GRCm39) missense probably benign
R4373:BC034090 UTSW 1 155,101,904 (GRCm39) missense probably benign 0.22
R4377:BC034090 UTSW 1 155,108,196 (GRCm39) missense probably benign 0.00
R4661:BC034090 UTSW 1 155,108,221 (GRCm39) missense probably damaging 0.98
R4676:BC034090 UTSW 1 155,102,010 (GRCm39) missense possibly damaging 0.60
R4729:BC034090 UTSW 1 155,100,836 (GRCm39) missense probably damaging 1.00
R5170:BC034090 UTSW 1 155,089,396 (GRCm39) missense probably damaging 1.00
R5340:BC034090 UTSW 1 155,102,160 (GRCm39) missense possibly damaging 0.74
R5382:BC034090 UTSW 1 155,101,349 (GRCm39) missense probably benign 0.09
R5384:BC034090 UTSW 1 155,117,773 (GRCm39) missense possibly damaging 0.68
R5576:BC034090 UTSW 1 155,117,214 (GRCm39) missense probably benign 0.01
R5891:BC034090 UTSW 1 155,108,793 (GRCm39) unclassified probably benign
R6060:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
R6092:BC034090 UTSW 1 155,100,659 (GRCm39) missense probably damaging 0.99
R6662:BC034090 UTSW 1 155,102,085 (GRCm39) missense possibly damaging 0.92
R6736:BC034090 UTSW 1 155,117,676 (GRCm39) missense possibly damaging 0.92
R6903:BC034090 UTSW 1 155,097,131 (GRCm39) missense probably benign 0.03
R6970:BC034090 UTSW 1 155,117,185 (GRCm39) missense probably damaging 1.00
R7144:BC034090 UTSW 1 155,117,777 (GRCm39) missense probably damaging 1.00
R7201:BC034090 UTSW 1 155,117,680 (GRCm39) missense probably damaging 0.98
R7265:BC034090 UTSW 1 155,101,073 (GRCm39) missense probably damaging 0.96
R7380:BC034090 UTSW 1 155,108,229 (GRCm39) missense probably damaging 1.00
R7436:BC034090 UTSW 1 155,102,127 (GRCm39) missense probably damaging 1.00
R7569:BC034090 UTSW 1 155,093,151 (GRCm39) missense probably benign 0.00
R7587:BC034090 UTSW 1 155,093,232 (GRCm39) missense probably damaging 1.00
R7664:BC034090 UTSW 1 155,117,377 (GRCm39) missense probably damaging 1.00
R7737:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R7782:BC034090 UTSW 1 155,108,410 (GRCm39) intron probably benign
R7927:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R8079:BC034090 UTSW 1 155,101,032 (GRCm39) missense probably damaging 1.00
R8204:BC034090 UTSW 1 155,117,488 (GRCm39) missense probably damaging 1.00
R8558:BC034090 UTSW 1 155,097,085 (GRCm39) missense possibly damaging 0.95
R8832:BC034090 UTSW 1 155,102,034 (GRCm39) missense probably damaging 1.00
R8858:BC034090 UTSW 1 155,101,964 (GRCm39) missense probably benign 0.17
R8879:BC034090 UTSW 1 155,102,103 (GRCm39) missense probably benign
R9004:BC034090 UTSW 1 155,102,138 (GRCm39) missense possibly damaging 0.87
R9036:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R9141:BC034090 UTSW 1 155,108,474 (GRCm39) intron probably benign
R9293:BC034090 UTSW 1 155,101,518 (GRCm39) missense probably benign 0.29
R9348:BC034090 UTSW 1 155,099,049 (GRCm39) missense probably benign 0.00
R9440:BC034090 UTSW 1 155,101,961 (GRCm39) missense probably benign 0.06
R9477:BC034090 UTSW 1 155,102,087 (GRCm39) missense probably damaging 1.00
R9608:BC034090 UTSW 1 155,099,135 (GRCm39) missense possibly damaging 0.79
R9700:BC034090 UTSW 1 155,101,982 (GRCm39) missense probably damaging 1.00
R9787:BC034090 UTSW 1 155,117,955 (GRCm39) missense possibly damaging 0.95
X0002:BC034090 UTSW 1 155,102,025 (GRCm39) nonsense probably null
Z1187:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1189:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1190:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1192:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16