Incidental Mutation 'R5508:Scoc'
ID 431035
Institutional Source Beutler Lab
Gene Symbol Scoc
Ensembl Gene ENSMUSG00000063253
Gene Name short coiled-coil protein
Synonyms short coiled-coil protein, 2810002J11Rik, 0610011C06Rik
MMRRC Submission 043069-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R5508 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84161121-84185055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84162571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 68 (S68T)
Ref Sequence ENSEMBL: ENSMUSP00000128210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081506] [ENSMUST00000167525] [ENSMUST00000212031] [ENSMUST00000212449] [ENSMUST00000212500] [ENSMUST00000212905]
AlphaFold Q78YZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000081506
AA Change: S112T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080221
Gene: ENSMUSG00000063253
AA Change: S112T

DomainStartEndE-ValueType
Pfam:DUF2205 45 120 7.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167525
AA Change: S68T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128210
Gene: ENSMUSG00000063253
AA Change: S68T

DomainStartEndE-ValueType
Pfam:DUF2205 2 82 1.2e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212031
AA Change: S69T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212473
Predicted Effect probably benign
Transcript: ENSMUST00000212500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212849
Predicted Effect possibly damaging
Transcript: ENSMUST00000212905
AA Change: S69T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212871
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Apc A G 18: 34,431,633 (GRCm39) D344G probably damaging Het
Asphd2 A T 5: 112,534,649 (GRCm39) F300I probably damaging Het
BC016579 T A 16: 45,453,369 (GRCm39) T149S possibly damaging Het
Bcl6b A T 11: 70,116,919 (GRCm39) H453Q probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Clec4b2 A G 6: 123,150,001 (GRCm39) probably benign Het
Crispld1 G T 1: 17,823,207 (GRCm39) C396F probably damaging Het
Dnase1l3 A G 14: 7,968,146 (GRCm38) V253A probably damaging Het
Efhd1 A G 1: 87,237,516 (GRCm39) *241W probably null Het
Flvcr1 C T 1: 190,757,656 (GRCm39) G212D probably damaging Het
Golga2 T A 2: 32,178,199 (GRCm39) L36* probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf3c2 G T 5: 31,331,805 (GRCm39) C4* probably null Het
Kit G T 5: 75,810,208 (GRCm39) C786F probably damaging Het
Klf14 T C 6: 30,934,977 (GRCm39) H219R probably damaging Het
Large2 A G 2: 92,200,248 (GRCm39) V122A possibly damaging Het
Lct G A 1: 128,221,868 (GRCm39) A1557V probably damaging Het
Lrp6 T G 6: 134,441,479 (GRCm39) K1162N probably benign Het
Mtmr11 G A 3: 96,071,084 (GRCm39) R147Q probably damaging Het
Pbld2 T A 10: 62,902,444 (GRCm39) probably null Het
Pcdhb3 A T 18: 37,434,179 (GRCm39) L48F probably damaging Het
Pdcd2 C T 17: 15,742,001 (GRCm39) D310N probably damaging Het
Phlpp1 G T 1: 106,292,120 (GRCm39) R993L probably benign Het
Prr36 G A 8: 4,266,488 (GRCm39) P21S probably damaging Het
Ptprq C A 10: 107,522,092 (GRCm39) V620L probably benign Het
Ranbp2 T A 10: 58,315,827 (GRCm39) D2182E probably damaging Het
Sass6 G A 3: 116,413,752 (GRCm39) R485K probably benign Het
Speer3 T A 5: 13,844,678 (GRCm39) L114I probably damaging Het
Ss18l1 C G 2: 179,699,446 (GRCm39) Q215E probably damaging Het
Stab2 T C 10: 86,796,143 (GRCm39) N368S probably benign Het
Trim80 T A 11: 115,335,904 (GRCm39) S275R probably benign Het
Tubb5 T C 17: 36,145,962 (GRCm39) N416S probably benign Het
Ugt2a3 A T 5: 87,475,059 (GRCm39) M395K probably damaging Het
Vmn2r61 T A 7: 41,916,242 (GRCm39) M285K possibly damaging Het
Xpo1 A G 11: 23,244,645 (GRCm39) I1008V probably benign Het
Other mutations in Scoc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0078:Scoc UTSW 8 84,184,887 (GRCm39) splice site probably null
R5834:Scoc UTSW 8 84,164,260 (GRCm39) missense possibly damaging 0.90
R6278:Scoc UTSW 8 84,184,965 (GRCm39) missense unknown
R6437:Scoc UTSW 8 84,164,616 (GRCm39) missense probably benign 0.32
R8784:Scoc UTSW 8 84,164,245 (GRCm39) missense probably benign 0.12
R9210:Scoc UTSW 8 84,162,543 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GCTCCTGTTCAGCATTAGTGTTAC -3'
(R):5'- GAGTCCCATGGCAAACACTG -3'

Sequencing Primer
(F):5'- CAGCATTAGTGTTACCTAGATGTGAC -3'
(R):5'- TTCAGGGTATCACACATGCTAGGC -3'
Posted On 2016-10-05