Incidental Mutation 'IGL03276:Srp19'
ID 415408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srp19
Ensembl Gene ENSMUSG00000014504
Gene Name signal recognition particle 19
Synonyms 2310020D23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.400) question?
Stock # IGL03276
Quality Score
Status
Chromosome 18
Chromosomal Location 34464185-34469652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34464843 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 127,021,794 (GRCm39) F202V possibly damaging Het
Atrnl1 A T 19: 57,641,359 (GRCm39) N336Y probably damaging Het
Bicc1 T C 10: 70,789,268 (GRCm39) D381G possibly damaging Het
Cabin1 A T 10: 75,568,247 (GRCm39) L912Q probably damaging Het
Fam83e A G 7: 45,372,884 (GRCm39) D165G possibly damaging Het
Foxn1 T A 11: 78,261,950 (GRCm39) T140S probably benign Het
Ggt1 A G 10: 75,416,331 (GRCm39) probably benign Het
Kctd8 A T 5: 69,497,929 (GRCm39) M239K possibly damaging Het
Kdm4d A T 9: 14,375,838 (GRCm39) C7S probably benign Het
Kdm5a T A 6: 120,379,669 (GRCm39) probably benign Het
Klrb1b T C 6: 128,792,168 (GRCm39) N191S probably benign Het
Krt35 C T 11: 99,983,953 (GRCm39) S349N probably benign Het
Krt75 A T 15: 101,476,811 (GRCm39) D359E probably damaging Het
Lipo5 T C 19: 33,445,242 (GRCm39) D109G unknown Het
Lsm12 T G 11: 102,073,770 (GRCm39) I58L probably benign Het
Mxd4 T C 5: 34,335,088 (GRCm39) D99G probably benign Het
Nlrp4a T A 7: 26,163,615 (GRCm39) N927K probably damaging Het
Olfm2 A G 9: 20,580,083 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,457,980 (GRCm39) V4103A possibly damaging Het
Slc30a9 T C 5: 67,507,260 (GRCm39) probably benign Het
Snap91 T C 9: 86,707,065 (GRCm39) T242A possibly damaging Het
Tenm2 C T 11: 35,963,603 (GRCm39) V943I possibly damaging Het
Tgfb3 T C 12: 86,104,642 (GRCm39) E384G probably damaging Het
Tmem39a T A 16: 38,405,646 (GRCm39) N74K probably benign Het
Tnfrsf11a A G 1: 105,749,215 (GRCm39) Y211C probably damaging Het
Other mutations in Srp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Srp19 UTSW 18 34,467,523 (GRCm39) missense probably damaging 1.00
R0306:Srp19 UTSW 18 34,467,629 (GRCm39) splice site probably benign
R5726:Srp19 UTSW 18 34,464,826 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02