Incidental Mutation 'IGL03368:Srp54a'
ID 420158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srp54a
Ensembl Gene ENSMUSG00000073079
Gene Name signal recognition particle 54A
Synonyms 54K subunit of signal recognition particle, Srp54, 54kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # IGL03368
Quality Score
Status
Chromosome 12
Chromosomal Location 55127318-55162152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 55138051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 63 (E63A)
Ref Sequence ENSEMBL: ENSMUSP00000152448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021407] [ENSMUST00000220578] [ENSMUST00000221655]
AlphaFold P14576
Predicted Effect probably null
Transcript: ENSMUST00000021407
AA Change: E63A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021407
Gene: ENSMUSG00000073079
AA Change: E63A

DomainStartEndE-ValueType
SRP54_N 2 87 7.47e-19 SMART
AAA 100 277 2.15e-7 SMART
SRP54 101 296 7.25e-90 SMART
Pfam:SRP_SPB 326 431 1e-32 PFAM
low complexity region 490 504 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000220578
AA Change: E63A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221479
Predicted Effect probably null
Transcript: ENSMUST00000221655
AA Change: E63A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000222027
AA Change: E55A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223111
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,380,530 (GRCm39) noncoding transcript Het
Abca5 A G 11: 110,204,348 (GRCm39) probably benign Het
Agxt2 T A 15: 10,388,256 (GRCm39) C278* probably null Het
Ankar A G 1: 72,714,972 (GRCm39) L384P probably damaging Het
Ankrd55 T C 13: 112,455,090 (GRCm39) probably benign Het
Ap5m1 A G 14: 49,318,593 (GRCm39) probably benign Het
Arhgap18 C T 10: 26,648,689 (GRCm39) S37F possibly damaging Het
Btnl10 G A 11: 58,810,212 (GRCm39) V118I possibly damaging Het
Chst11 C A 10: 82,927,980 (GRCm39) P66T probably benign Het
Cited2 C A 10: 17,599,944 (GRCm39) P84Q possibly damaging Het
Cplane1 T C 15: 8,251,857 (GRCm39) V1914A probably benign Het
Dpy19l4 T A 4: 11,290,253 (GRCm39) I302F possibly damaging Het
Ece2 A G 16: 20,462,908 (GRCm39) E640G possibly damaging Het
Fam184b T C 5: 45,689,166 (GRCm39) D890G possibly damaging Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Foxp2 A G 6: 15,394,717 (GRCm39) K139R probably damaging Het
Gle1 T C 2: 29,833,805 (GRCm39) C401R probably damaging Het
Gp2 A T 7: 119,052,097 (GRCm39) C206S probably damaging Het
Hdgfl2 G T 17: 56,386,746 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,539,623 (GRCm39) N2956S probably damaging Het
Ifi209 A G 1: 173,470,057 (GRCm39) Q215R possibly damaging Het
Il20rb C T 9: 100,341,174 (GRCm39) probably benign Het
Katnip T C 7: 125,468,030 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,773 (GRCm39) S1290R probably damaging Het
Mical1 A G 10: 41,355,625 (GRCm39) I156M probably damaging Het
Nbas C T 12: 13,378,452 (GRCm39) A613V probably benign Het
Nbea C T 3: 55,987,351 (GRCm39) V380M probably damaging Het
Nutf2 T C 8: 106,602,232 (GRCm39) F14S probably damaging Het
Or4c35 A T 2: 89,808,133 (GRCm39) I4L probably benign Het
Or52r1b T A 7: 102,690,972 (GRCm39) H95Q possibly damaging Het
Parp1 A G 1: 180,408,187 (GRCm39) E236G probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Ptcd2 T A 13: 99,466,577 (GRCm39) probably benign Het
Pygl T C 12: 70,237,926 (GRCm39) Q704R probably benign Het
Scaper A T 9: 55,563,311 (GRCm39) S492T possibly damaging Het
Sephs1 G A 2: 4,894,080 (GRCm39) D94N possibly damaging Het
Slc22a29 A C 19: 8,184,626 (GRCm39) probably null Het
Slc22a8 G T 19: 8,586,483 (GRCm39) probably benign Het
Slfn5 A G 11: 82,847,211 (GRCm39) D32G possibly damaging Het
Sphkap T A 1: 83,253,397 (GRCm39) T1451S probably benign Het
Stap1 T A 5: 86,238,827 (GRCm39) I165N probably damaging Het
Terf2 T C 8: 107,797,181 (GRCm39) E494G probably damaging Het
Trak1 C A 9: 121,196,188 (GRCm39) L7I possibly damaging Het
Twnk T C 19: 44,998,931 (GRCm39) V557A probably damaging Het
U2af2 T A 7: 5,070,263 (GRCm39) probably benign Het
Ube2j1 T A 4: 33,038,317 (GRCm39) I75N probably damaging Het
Ubr5 A G 15: 37,998,560 (GRCm39) V1643A probably damaging Het
Vsx2 A G 12: 84,617,074 (GRCm39) T120A probably benign Het
Other mutations in Srp54a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3890:Srp54a UTSW 12 55,135,978 (GRCm39) splice site probably null
R3938:Srp54a UTSW 12 55,136,042 (GRCm39) missense probably benign 0.02
R9617:Srp54a UTSW 12 55,136,061 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02