Incidental Mutation 'IGL03276:Srp19'
ID415408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srp19
Ensembl Gene ENSMUSG00000014504
Gene Namesignal recognition particle 19
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.505) question?
Stock #IGL03276
Quality Score
Status
Chromosome18
Chromosomal Location34330847-34336599 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 34331790 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 28 (T28P)
Ref Sequence ENSEMBL: ENSMUSP00000116373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072576] [ENSMUST00000119329] [ENSMUST00000142010]
Predicted Effect probably damaging
Transcript: ENSMUST00000072576
AA Change: T28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072386
Gene: ENSMUSG00000014504
AA Change: T28P

DomainStartEndE-ValueType
Pfam:SRP19 17 115 1.6e-33 PFAM
low complexity region 136 144 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119329
AA Change: T28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112826
Gene: ENSMUSG00000014504
AA Change: T28P

DomainStartEndE-ValueType
Pfam:SRP19 16 40 7.5e-9 PFAM
Pfam:SRP19 36 92 7e-10 PFAM
low complexity region 112 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140279
Predicted Effect probably damaging
Transcript: ENSMUST00000142010
AA Change: T28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef25 A C 10: 127,185,925 F202V possibly damaging Het
Atrnl1 A T 19: 57,652,927 N336Y probably damaging Het
Bicc1 T C 10: 70,953,438 D381G possibly damaging Het
Cabin1 A T 10: 75,732,413 L912Q probably damaging Het
Fam83e A G 7: 45,723,460 D165G possibly damaging Het
Foxn1 T A 11: 78,371,124 T140S probably benign Het
Ggt1 A G 10: 75,580,497 probably benign Het
Kctd8 A T 5: 69,340,586 M239K possibly damaging Het
Kdm4d A T 9: 14,464,542 C7S probably benign Het
Kdm5a T A 6: 120,402,708 probably benign Het
Klrb1b T C 6: 128,815,205 N191S probably benign Het
Krt35 C T 11: 100,093,127 S349N probably benign Het
Krt75 A T 15: 101,568,376 D359E probably damaging Het
Lipo5 T C 19: 33,467,842 D109G unknown Het
Lsm12 T G 11: 102,182,944 I58L probably benign Het
Mxd4 T C 5: 34,177,744 D99G probably benign Het
Nlrp4a T A 7: 26,464,190 N927K probably damaging Het
Olfm2 A G 9: 20,668,787 probably benign Het
Pkhd1l1 T C 15: 44,594,584 V4103A possibly damaging Het
Slc30a9 T C 5: 67,349,917 probably benign Het
Snap91 T C 9: 86,825,012 T242A possibly damaging Het
Tenm2 C T 11: 36,072,776 V943I possibly damaging Het
Tgfb3 T C 12: 86,057,868 E384G probably damaging Het
Tmem39a T A 16: 38,585,284 N74K probably benign Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Other mutations in Srp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Srp19 UTSW 18 34334470 missense probably damaging 1.00
R0306:Srp19 UTSW 18 34334576 splice site probably benign
R5726:Srp19 UTSW 18 34331773 missense probably damaging 1.00
Posted On2016-08-02