Incidental Mutation 'R1076:Srp54b'
ID 85661
Institutional Source Beutler Lab
Gene Symbol Srp54b
Ensembl Gene ENSMUSG00000112449
Gene Name signal recognition particle 54B
Synonyms
MMRRC Submission 039162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R1076 (G1)
Quality Score 184
Status Validated
Chromosome 12
Chromosomal Location 55201889-55235998 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 55302313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164243] [ENSMUST00000218879]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000164243
SMART Domains Protein: ENSMUSP00000132835
Gene: ENSMUSG00000079108

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 benign
Transcript: ENSMUST00000218879
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,759 (GRCm39) K63R probably damaging Het
Ankrd50 T C 3: 38,509,071 (GRCm39) N176D probably damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Cldn4 A G 5: 134,975,191 (GRCm39) S137P probably damaging Het
Cnn1 A T 9: 22,019,165 (GRCm39) Q157L probably damaging Het
Csn1s1 A T 5: 87,824,242 (GRCm39) probably null Het
Dennd3 C T 15: 73,412,582 (GRCm39) H415Y probably damaging Het
Dnpep A G 1: 75,292,582 (GRCm39) probably benign Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Elovl2 A G 13: 41,343,583 (GRCm39) V115A possibly damaging Het
Fryl C T 5: 73,282,016 (GRCm39) probably benign Het
Gsap A G 5: 21,492,692 (GRCm39) T707A possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ktn1 T A 14: 47,932,095 (GRCm39) M674K probably damaging Het
Larp4 A G 15: 99,895,311 (GRCm39) T295A probably benign Het
Lrp1 T C 10: 127,399,666 (GRCm39) probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mctp2 T G 7: 71,835,615 (GRCm39) probably null Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Neb A G 2: 52,094,904 (GRCm39) Y4883H probably damaging Het
Nsun6 A T 2: 15,014,283 (GRCm39) C286S probably benign Het
Pabpc4 T A 4: 123,186,701 (GRCm39) D307E possibly damaging Het
Pik3cg G A 12: 32,245,713 (GRCm39) probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Serpina3k A G 12: 104,307,253 (GRCm39) T162A probably benign Het
Sis T C 3: 72,841,431 (GRCm39) T795A probably damaging Het
Skint8 T A 4: 111,784,416 (GRCm39) V14E probably damaging Het
Slc2a1 T G 4: 118,991,645 (GRCm39) M351R probably damaging Het
Slc41a3 G A 6: 90,621,142 (GRCm39) C394Y probably benign Het
Ulk2 G A 11: 61,710,135 (GRCm39) H358Y probably damaging Het
Utp20 A T 10: 88,608,405 (GRCm39) I1544N possibly damaging Het
Utp20 A G 10: 88,608,321 (GRCm39) M1572T probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L 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
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
R6417:Srp54b UTSW 12 55,296,855 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCATTGTGTCATCTCTCCTAGCA -3'
(R):5'- GCTAATAAGGCAGTTGGCTCTCCTG -3'

Sequencing Primer
(F):5'- attgtgtcatctctcctagcACTAAG -3'
(R):5'- CCTGATGCTTTGCAGTGTATTAAAC -3'
Posted On 2013-11-18