Incidental Mutation 'IGL02747:BC048403'
ID 306083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC048403
Ensembl Gene ENSMUSG00000053684
Gene Name cDNA sequence BC048403
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL02747
Quality Score
Status
Chromosome 10
Chromosomal Location 121739937-121752878 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121745550 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 152 (Q152P)
Ref Sequence ENSEMBL: ENSMUSP00000070834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065600] [ENSMUST00000136432]
AlphaFold no structure available at present
PDB Structure X-ray structure of a hypothetical protein from Mouse Mm.209172 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065600
AA Change: Q152P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: Q152P

DomainStartEndE-ValueType
Pfam:DUF2003 7 444 3.8e-252 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136432
AA Change: Q16P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: Q16P

DomainStartEndE-ValueType
Pfam:DUF2003 1 309 1.1e-205 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in BC048403
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:BC048403 APN 10 121750770 missense probably damaging 1.00
IGL02598:BC048403 APN 10 121739971 utr 5 prime probably benign
R0381:BC048403 UTSW 10 121745375 missense probably damaging 1.00
R0732:BC048403 UTSW 10 121750947 missense possibly damaging 0.55
R2383:BC048403 UTSW 10 121750649 missense possibly damaging 0.69
R4299:BC048403 UTSW 10 121745446 missense probably benign 0.01
R4760:BC048403 UTSW 10 121740007 missense probably damaging 1.00
R5595:BC048403 UTSW 10 121740147 start gained probably benign
R6184:BC048403 UTSW 10 121750905 missense probably damaging 1.00
R6487:BC048403 UTSW 10 121745541 missense probably damaging 1.00
R6977:BC048403 UTSW 10 121745466 missense probably damaging 0.98
R7094:BC048403 UTSW 10 121740193 missense possibly damaging 0.95
R7250:BC048403 UTSW 10 121745471 missense possibly damaging 0.82
R8186:BC048403 UTSW 10 121745342 missense possibly damaging 0.79
R8554:BC048403 UTSW 10 121740055 missense probably benign
R9005:BC048403 UTSW 10 121750596 missense probably damaging 1.00
R9124:BC048403 UTSW 10 121750511 nonsense probably null
R9245:BC048403 UTSW 10 121750368 missense probably damaging 0.98
Posted On 2015-04-16