Incidental Mutation 'R6417:Srp54b'
ID 518122
Institutional Source Beutler Lab
Gene Symbol Srp54b
Ensembl Gene ENSMUSG00000112449
Gene Name signal recognition particle 54B
Synonyms
MMRRC Submission 044559-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R6417 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 55201889-55235998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55296855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
Ref Sequence ENSEMBL: ENSMUSP00000151681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164243] [ENSMUST00000218879]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000164243
AA Change: F184L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132835
Gene: ENSMUSG00000079108
AA Change: F184L

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 9.2e-33 PFAM
low complexity region 490 504 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218879
AA Change: F184L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Abra C T 15: 41,729,452 (GRCm39) R316H probably benign Het
Adam7 T A 14: 68,742,070 (GRCm39) T729S probably benign Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Eif2ak2 A C 17: 79,164,048 (GRCm39) L439R probably damaging Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Med1 T C 11: 98,048,054 (GRCm39) D914G probably damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b39 T A 9: 37,996,890 (GRCm39) S253T probably benign Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Plk5 T C 10: 80,199,906 (GRCm39) V471A probably benign Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Slc25a23 T C 17: 57,359,780 (GRCm39) I324V probably damaging Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcte1 A G 17: 45,846,056 (GRCm39) E220G probably damaging Het
Tfrc C T 16: 32,449,057 (GRCm39) T732I probably damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Urb2 C T 8: 124,773,938 (GRCm39) R1490W probably damaging Het
Wdr64 A T 1: 175,553,956 (GRCm39) D162V probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M probably damaging Het
Other mutations in Srp54b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Srp54b APN 12 55,299,560 (GRCm39) missense probably benign 0.39
R0101:Srp54b UTSW 12 55,302,405 (GRCm39) splice site probably benign
R0395:Srp54b UTSW 12 55,296,884 (GRCm39) missense probably damaging 1.00
R1076:Srp54b UTSW 12 55,302,313 (GRCm39) splice site probably benign
R1186:Srp54b UTSW 12 55,302,313 (GRCm39) splice site probably benign
R1520:Srp54b UTSW 12 55,304,354 (GRCm39) missense possibly damaging 0.68
R1541:Srp54b UTSW 12 55,302,844 (GRCm39) missense probably benign 0.27
R1732:Srp54b UTSW 12 55,299,544 (GRCm39) splice site probably null
R1836:Srp54b UTSW 12 55,296,945 (GRCm39) splice site probably null
R5344:Srp54b UTSW 12 55,302,366 (GRCm39) missense probably damaging 1.00
R5841:Srp54b UTSW 12 55,299,614 (GRCm39) missense probably benign 0.01
R6269:Srp54b UTSW 12 55,302,757 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GATGCCAAAGAAATGGGCTTC -3'
(R):5'- CAGTGATAGTAGCTGTCTTACAGG -3'

Sequencing Primer
(F):5'- AGAAATGGGCTTCTGTATTTATTACG -3'
(R):5'- GTCCCATGGAAAGCTACT -3'
Posted On 2018-05-24