Incidental Mutation 'R5508:Sass6'
ID 431025
Institutional Source Beutler Lab
Gene Symbol Sass6
Ensembl Gene ENSMUSG00000027959
Gene Name SAS-6 centriolar assembly protein
Synonyms 2810453L12Rik
MMRRC Submission 043069-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R5508 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 116388631-116424653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116413752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 485 (R485K)
Ref Sequence ENSEMBL: ENSMUSP00000143175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029571] [ENSMUST00000197335] [ENSMUST00000198311] [ENSMUST00000198386]
AlphaFold Q80UK7
Predicted Effect probably benign
Transcript: ENSMUST00000029571
SMART Domains Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:SAS-6_N 44 141 1.7e-29 PFAM
low complexity region 223 235 N/A INTRINSIC
coiled coil region 415 471 N/A INTRINSIC
low complexity region 632 644 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197063
Predicted Effect probably benign
Transcript: ENSMUST00000197335
AA Change: R450K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: R450K

DomainStartEndE-ValueType
PDB:2Y3W|C 7 136 3e-48 PDB
low complexity region 188 200 N/A INTRINSIC
coiled coil region 380 436 N/A INTRINSIC
low complexity region 597 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198311
AA Change: R485K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: R485K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
PDB:2Y3W|C 15 171 9e-62 PDB
low complexity region 223 235 N/A INTRINSIC
coiled coil region 415 471 N/A INTRINSIC
low complexity region 632 644 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198386
AA Change: R485K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: R485K

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
PDB:2Y3W|C 15 171 1e-62 PDB
low complexity region 223 235 N/A INTRINSIC
coiled coil region 415 471 N/A INTRINSIC
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.] The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]
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
Scoc A T 8: 84,162,571 (GRCm39) S68T probably damaging 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 Sass6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Sass6 APN 3 116,411,977 (GRCm39) missense probably damaging 1.00
IGL00755:Sass6 APN 3 116,411,977 (GRCm39) missense probably damaging 1.00
IGL01067:Sass6 APN 3 116,407,605 (GRCm39) missense possibly damaging 0.90
IGL01563:Sass6 APN 3 116,398,847 (GRCm39) missense probably damaging 1.00
BB003:Sass6 UTSW 3 116,422,419 (GRCm39) missense possibly damaging 0.82
BB013:Sass6 UTSW 3 116,422,419 (GRCm39) missense possibly damaging 0.82
R0388:Sass6 UTSW 3 116,400,957 (GRCm39) splice site probably benign
R0918:Sass6 UTSW 3 116,397,172 (GRCm39) critical splice donor site probably null
R1557:Sass6 UTSW 3 116,412,381 (GRCm39) missense possibly damaging 0.62
R1681:Sass6 UTSW 3 116,397,122 (GRCm39) missense possibly damaging 0.87
R1742:Sass6 UTSW 3 116,401,126 (GRCm39) missense probably damaging 1.00
R1958:Sass6 UTSW 3 116,403,945 (GRCm39) missense possibly damaging 0.84
R4839:Sass6 UTSW 3 116,403,949 (GRCm39) missense probably damaging 0.99
R5087:Sass6 UTSW 3 116,403,947 (GRCm39) missense probably damaging 1.00
R5225:Sass6 UTSW 3 116,407,702 (GRCm39) missense possibly damaging 0.87
R5615:Sass6 UTSW 3 116,401,135 (GRCm39) missense probably benign
R5642:Sass6 UTSW 3 116,401,145 (GRCm39) critical splice donor site probably null
R6478:Sass6 UTSW 3 116,415,046 (GRCm39) missense probably benign 0.01
R6781:Sass6 UTSW 3 116,388,773 (GRCm39) unclassified probably benign
R7457:Sass6 UTSW 3 116,413,813 (GRCm39) missense probably benign 0.17
R7926:Sass6 UTSW 3 116,422,419 (GRCm39) missense possibly damaging 0.82
R8836:Sass6 UTSW 3 116,407,598 (GRCm39) missense possibly damaging 0.94
R8854:Sass6 UTSW 3 116,399,384 (GRCm39) missense possibly damaging 0.93
R8941:Sass6 UTSW 3 116,407,709 (GRCm39) missense probably benign 0.00
R9047:Sass6 UTSW 3 116,407,647 (GRCm39) missense probably damaging 0.99
R9285:Sass6 UTSW 3 116,422,354 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- GCAGCTATAGAAACTGAATGCTAC -3'
(R):5'- TAATCAAGCACGCGTAGGCC -3'

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