Incidental Mutation 'R1906:Srp68'
ID 214397
Institutional Source Beutler Lab
Gene Symbol Srp68
Ensembl Gene ENSMUSG00000020780
Gene Name signal recognition particle 68
Synonyms 2610024I03Rik
MMRRC Submission 039925-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1906 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116135992-116165043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116141587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 424 (I424N)
Ref Sequence ENSEMBL: ENSMUSP00000021133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]
AlphaFold Q8BMA6
Predicted Effect probably damaging
Transcript: ENSMUST00000021133
AA Change: I424N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: I424N

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SRP68 74 596 5.5e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106425
AA Change: I386N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: I386N

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
PDB:4P3F|B 46 215 1e-112 PDB
Blast:TPR 149 182 5e-15 BLAST
Blast:TPR 424 457 1e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128808
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,984 (GRCm39) T923I probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Adamts5 C T 16: 85,665,573 (GRCm39) W576* probably null Het
Adnp A T 2: 168,024,287 (GRCm39) S1003T probably benign Het
AI987944 C T 7: 41,024,550 (GRCm39) R146Q probably benign Het
Apol6 G T 15: 76,935,060 (GRCm39) V110F probably damaging Het
Arhgap27 A G 11: 103,223,751 (GRCm39) F651L probably damaging Het
Atm T C 9: 53,417,868 (GRCm39) D813G probably damaging Het
Casd1 T A 6: 4,641,979 (GRCm39) I752N probably damaging Het
Cdr2 A G 7: 120,581,224 (GRCm39) Y18H probably damaging Het
Cntn4 T C 6: 106,330,607 (GRCm39) F75S probably benign Het
Col20a1 G A 2: 180,640,490 (GRCm39) R549H probably benign Het
Col28a1 A T 6: 7,999,644 (GRCm39) N1024K probably benign Het
Dnah10 T A 5: 124,878,048 (GRCm39) V2654D probably damaging Het
Dnph1 A T 17: 46,807,787 (GRCm39) I18F probably damaging Het
Dsn1 G A 2: 156,838,163 (GRCm39) R334W probably damaging Het
Egf T A 3: 129,518,873 (GRCm39) K325N probably benign Het
Eps15 T G 4: 109,181,398 (GRCm39) S311A possibly damaging Het
Fmo3 G T 1: 162,794,475 (GRCm39) D198E probably damaging Het
Folh1 C G 7: 86,391,374 (GRCm39) probably null Het
Foxn1 A G 11: 78,262,636 (GRCm39) probably null Het
Gm10604 T G 4: 11,979,989 (GRCm39) D105A unknown Het
Gpx8 A G 13: 113,182,110 (GRCm39) C108R probably damaging Het
Herc2 A T 7: 55,764,612 (GRCm39) I1013L probably benign Het
Hyal4 T G 6: 24,756,110 (GRCm39) N109K probably damaging Het
Il22ra1 T G 4: 135,478,544 (GRCm39) C538W probably damaging Het
Ints13 A T 6: 146,453,868 (GRCm39) probably null Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lama2 A C 10: 26,932,523 (GRCm39) probably null Het
Lifr G T 15: 7,217,612 (GRCm39) V847L probably damaging Het
Lmf1 T A 17: 25,831,309 (GRCm39) I185N probably damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Ms4a15 T C 19: 10,960,644 (GRCm39) I94V probably benign Het
Mycbpap A T 11: 94,396,447 (GRCm39) M131K probably benign Het
Ncor1 A T 11: 62,240,211 (GRCm39) M920K possibly damaging Het
Neb A G 2: 52,198,538 (GRCm39) Y437H probably damaging Het
Npy5r A T 8: 67,134,125 (GRCm39) W223R probably damaging Het
Or10ak11 G A 4: 118,687,467 (GRCm39) H56Y probably damaging Het
Or10x4 C A 1: 174,218,730 (GRCm39) L32M probably damaging Het
Or4c114 A G 2: 88,905,414 (GRCm39) V7A possibly damaging Het
Or6c6c T G 10: 129,541,365 (GRCm39) V206G probably benign Het
Polg T C 7: 79,110,070 (GRCm39) K353E probably damaging Het
Proz C G 8: 13,123,686 (GRCm39) probably null Het
Pus7 T C 5: 23,983,209 (GRCm39) D86G probably damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Rigi T C 4: 40,206,054 (GRCm39) K846R probably benign Het
Sptbn4 A G 7: 27,090,856 (GRCm39) probably null Het
Stard9 A G 2: 120,526,908 (GRCm39) E1055G probably benign Het
Taf4b A G 18: 14,955,159 (GRCm39) I571V probably benign Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Thap12 T C 7: 98,365,947 (GRCm39) L705P probably damaging Het
Tom1 T C 8: 75,778,218 (GRCm39) V100A probably damaging Het
Tox3 A G 8: 90,975,057 (GRCm39) probably benign Het
Vmn2r82 A G 10: 79,232,344 (GRCm39) N781S probably damaging Het
Vwa5b1 A T 4: 138,327,547 (GRCm39) V343E possibly damaging Het
Zbbx A G 3: 74,979,047 (GRCm39) Y467H probably damaging Het
Zbtb46 G A 2: 181,065,632 (GRCm39) R173W probably damaging Het
Zfp112 A G 7: 23,821,720 (GRCm39) D20G probably benign Het
Zfp777 A C 6: 48,018,995 (GRCm39) M313R probably damaging Het
Other mutations in Srp68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Srp68 APN 11 116,138,638 (GRCm39) splice site probably benign
IGL02974:Srp68 APN 11 116,137,051 (GRCm39) missense probably benign 0.31
tipsy UTSW 11 116,136,638 (GRCm39) missense probably damaging 1.00
P0028:Srp68 UTSW 11 116,151,746 (GRCm39) missense probably damaging 0.99
R0211:Srp68 UTSW 11 116,156,377 (GRCm39) missense probably damaging 1.00
R0211:Srp68 UTSW 11 116,156,377 (GRCm39) missense probably damaging 1.00
R0468:Srp68 UTSW 11 116,139,590 (GRCm39) missense probably damaging 0.98
R0796:Srp68 UTSW 11 116,137,509 (GRCm39) missense probably benign 0.12
R1291:Srp68 UTSW 11 116,154,107 (GRCm39) missense probably damaging 1.00
R2149:Srp68 UTSW 11 116,151,693 (GRCm39) missense possibly damaging 0.93
R3732:Srp68 UTSW 11 116,164,782 (GRCm39) nonsense probably null
R4651:Srp68 UTSW 11 116,164,840 (GRCm39) missense probably benign
R4652:Srp68 UTSW 11 116,164,840 (GRCm39) missense probably benign
R4686:Srp68 UTSW 11 116,156,227 (GRCm39) missense probably damaging 0.98
R4924:Srp68 UTSW 11 116,151,684 (GRCm39) missense probably damaging 1.00
R5077:Srp68 UTSW 11 116,136,638 (GRCm39) missense probably damaging 1.00
R5095:Srp68 UTSW 11 116,139,573 (GRCm39) missense probably damaging 0.98
R5166:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R5167:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R5168:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R5769:Srp68 UTSW 11 116,137,495 (GRCm39) missense probably damaging 1.00
R6379:Srp68 UTSW 11 116,156,227 (GRCm39) missense probably damaging 1.00
R6577:Srp68 UTSW 11 116,156,290 (GRCm39) missense probably damaging 1.00
R6777:Srp68 UTSW 11 116,153,730 (GRCm39) missense probably damaging 1.00
R7089:Srp68 UTSW 11 116,162,733 (GRCm39) splice site probably null
R7561:Srp68 UTSW 11 116,139,593 (GRCm39) missense probably damaging 0.99
R7823:Srp68 UTSW 11 116,156,265 (GRCm39) missense probably damaging 1.00
R7854:Srp68 UTSW 11 116,144,909 (GRCm39) splice site probably null
R8206:Srp68 UTSW 11 116,164,809 (GRCm39) missense probably damaging 0.98
R8407:Srp68 UTSW 11 116,143,589 (GRCm39) missense probably benign 0.00
Z1088:Srp68 UTSW 11 116,164,861 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- AAGCACTAAGTGAATGCCTGTAGG -3'
(R):5'- GCCTAGCGTTGTTTGCAGAG -3'

Sequencing Primer
(F):5'- CCTGTAGGTGCACAAGGATTC -3'
(R):5'- CGTTGTTTGCAGAGCGTGAG -3'
Posted On 2014-07-14