Incidental Mutation 'R3890:Srp54a'
ID 310358
Institutional Source Beutler Lab
Gene Symbol Srp54a
Ensembl Gene ENSMUSG00000073079
Gene Name signal recognition particle 54A
Synonyms 54K subunit of signal recognition particle, Srp54, 54kDa
MMRRC Submission 040802-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R3890 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55127318-55162152 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 55135978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021407] [ENSMUST00000021407] [ENSMUST00000220578] [ENSMUST00000221655]
AlphaFold P14576
PDB Structure Structure of the signal recognition particle interacting with the elongation-arrested ribosome [ELECTRON MICROSCOPY]
Solution Structure of the N-terminal Domain of Mouse Putative Signal Recognition Particle 54 (SRP54) [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000021407
SMART Domains Protein: ENSMUSP00000021407
Gene: ENSMUSG00000073079

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: ENSMUST00000021407
SMART Domains Protein: ENSMUSP00000021407
Gene: ENSMUSG00000073079

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 benign
Transcript: ENSMUST00000220578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221479
Predicted Effect probably benign
Transcript: ENSMUST00000221655
Predicted Effect probably benign
Transcript: ENSMUST00000222027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223111
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,604,700 (GRCm39) Y201C probably damaging Het
Adam10 A G 9: 70,676,136 (GRCm39) T624A probably benign Het
Atf2 T C 2: 73,693,557 (GRCm39) S2G probably damaging Het
Atf7ip T C 6: 136,564,043 (GRCm39) V762A possibly damaging Het
Cacna1e C T 1: 154,359,299 (GRCm39) R265Q probably damaging Het
Cckbr A C 7: 105,075,376 (GRCm39) T49P probably benign Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Cntrl T G 2: 35,060,492 (GRCm39) C1342G probably benign Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Dennd4a T C 9: 64,779,310 (GRCm39) S598P probably damaging Het
Deup1 A G 9: 15,511,009 (GRCm39) Y257H probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ect2 T C 3: 27,192,689 (GRCm39) D387G probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fmo4 A T 1: 162,621,624 (GRCm39) I529N probably benign Het
Frs3 A G 17: 48,014,360 (GRCm39) D351G probably damaging Het
Gcat T A 15: 78,921,376 (GRCm39) V378D probably damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Hspa4l A T 3: 40,736,026 (GRCm39) Q570L possibly damaging Het
Ifi213 A G 1: 173,394,822 (GRCm39) I571T probably benign Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mettl1 T C 10: 126,880,998 (GRCm39) probably null Het
Mettl15 A G 2: 109,021,924 (GRCm39) I127T probably benign Het
Mipep T C 14: 61,046,444 (GRCm39) L322P probably damaging Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Mobp G A 9: 119,997,022 (GRCm39) C51Y probably damaging Het
Ms4a3 T C 19: 11,610,271 (GRCm39) N97S probably benign Het
Myrip A G 9: 120,251,324 (GRCm39) E210G probably damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or7e165 T G 9: 19,695,011 (GRCm39) I194S probably benign Het
Pdgfra A G 5: 75,328,588 (GRCm39) N240S probably null Het
Pdxdc1 T C 16: 13,654,312 (GRCm39) T759A probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Prdm15 T C 16: 97,600,771 (GRCm39) H829R probably damaging Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rcbtb1 T A 14: 59,465,804 (GRCm39) H382Q possibly damaging Het
Rprd2 A T 3: 95,672,536 (GRCm39) F956I probably damaging Het
Samd1 G A 8: 84,724,361 (GRCm39) probably benign Het
Slc4a11 A T 2: 130,527,705 (GRCm39) S592T probably damaging Het
Slc5a4b A G 10: 75,898,094 (GRCm39) V540A probably benign Het
Slfn8 G A 11: 82,895,270 (GRCm39) T512I possibly damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Sorl1 G A 9: 41,915,401 (GRCm39) T1276M probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Speer4f1 T C 5: 17,684,500 (GRCm39) I176T probably damaging Het
Spint1 T C 2: 119,079,283 (GRCm39) I455T probably benign Het
Stoml3 T A 3: 53,414,875 (GRCm39) N222K probably damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tanc2 A T 11: 105,689,504 (GRCm39) D222V probably damaging Het
Tasor2 T C 13: 3,646,785 (GRCm39) E80G probably damaging Het
Thsd7a G A 6: 12,418,336 (GRCm39) S631L probably benign Het
Vmn2r73 G A 7: 85,507,144 (GRCm39) H723Y probably benign Het
Wdfy4 T C 14: 32,769,237 (GRCm39) E2076G probably damaging Het
Other mutations in Srp54a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03368:Srp54a APN 12 55,138,051 (GRCm39) missense probably null 0.79
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
Predicted Primers PCR Primer
(F):5'- GGAAGGTGTCATAACCAAACTTATC -3'
(R):5'- AAGCACTCCTGACTGTTACTG -3'

Sequencing Primer
(F):5'- TTGGACAGGAATGTATTAAAGTTGC -3'
(R):5'- TCCTGACTGTTACTGGGTATTTATAG -3'
Posted On 2015-04-17