Incidental Mutation 'IGL02974:Srp68'
ID 406284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srp68
Ensembl Gene ENSMUSG00000020780
Gene Name signal recognition particle 68
Synonyms 2610024I03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL02974
Quality Score
Status
Chromosome 11
Chromosomal Location 116135992-116165043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116137051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 549 (N549D)
Ref Sequence ENSEMBL: ENSMUSP00000021133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]
AlphaFold Q8BMA6
Predicted Effect probably benign
Transcript: ENSMUST00000021133
AA Change: N549D

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: N549D

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SRP68 74 596 5.5e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106425
AA Change: N511D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: N511D

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Amn T C 12: 111,237,575 (GRCm39) V7A probably benign Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Arg2 T C 12: 79,197,566 (GRCm39) Y195H probably damaging Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Fndc3b A T 3: 27,542,425 (GRCm39) N408K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Terb1 G T 8: 105,221,600 (GRCm39) S202* probably null Het
Tmc1 T A 19: 20,878,208 (GRCm39) M96L probably benign Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V probably damaging Het
Other mutations in Srp68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Srp68 APN 11 116,138,638 (GRCm39) splice site probably benign
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
R1906:Srp68 UTSW 11 116,141,587 (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
Posted On 2016-08-02