Incidental Mutation 'IGL00423:BC048671'
ID6344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC048671
Ensembl Gene ENSMUSG00000049694
Gene NamecDNA sequence BC048671
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL00423
Quality Score
Status
Chromosome6
Chromosomal Location90301219-90305449 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90303218 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 39 (T39A)
Ref Sequence ENSEMBL: ENSMUSP00000132052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054799] [ENSMUST00000167550]
Predicted Effect probably benign
Transcript: ENSMUST00000054799
AA Change: T39A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000058483
Gene: ENSMUSG00000049694
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167550
AA Change: T39A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000132052
Gene: ENSMUSG00000049694
AA Change: T39A

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205132
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 P600S possibly damaging Het
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
Cnr1 G A 4: 33,944,116 S168N probably damaging Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Nucb2 T A 7: 116,521,831 probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Rab27b A G 18: 69,996,067 probably null Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Serpina6 T A 12: 103,651,903 N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in BC048671
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4449001:BC048671 UTSW 6 90305163 missense probably damaging 0.99
R0053:BC048671 UTSW 6 90305094 missense probably benign 0.02
R7088:BC048671 UTSW 6 90303240 missense probably null 0.87
R7396:BC048671 UTSW 6 90303291 missense probably damaging 1.00
Posted On2012-04-20