Incidental Mutation 'IGL00755:Sass6'
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ID13913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sass6
Ensembl Gene ENSMUSG00000027959
Gene NameSAS-6 centriolar assembly protein
Synonyms2810453L12Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL00755
Quality Score
Status
Chromosome3
Chromosomal Location116594982-116631004 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116618328 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 312 (E312K)
Ref Sequence ENSEMBL: ENSMUSP00000143175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029571] [ENSMUST00000041524] [ENSMUST00000197335] [ENSMUST00000198311] [ENSMUST00000198386]
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 probably benign
Transcript: ENSMUST00000041524
SMART Domains Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439

DomainStartEndE-ValueType
Pfam:zf-TRM13_CCCH 17 45 7.2e-17 PFAM
Pfam:zf-U11-48K 56 80 3.4e-12 PFAM
Pfam:TRM13 165 469 7e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197063
Predicted Effect probably damaging
Transcript: ENSMUST00000197335
AA Change: E277K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: E277K

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 noncoding transcript
Transcript: ENSMUST00000198103
Predicted Effect probably damaging
Transcript: ENSMUST00000198311
AA Change: E312K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: E312K

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 damaging
Transcript: ENSMUST00000198386
AA Change: E312K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: E312K

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Sass6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Sass6 APN 3 116618328 missense probably damaging 1.00
IGL01067:Sass6 APN 3 116613956 missense possibly damaging 0.90
IGL01563:Sass6 APN 3 116605198 missense probably damaging 1.00
BB003:Sass6 UTSW 3 116628770 missense possibly damaging 0.82
BB013:Sass6 UTSW 3 116628770 missense possibly damaging 0.82
R0388:Sass6 UTSW 3 116607308 splice site probably benign
R0918:Sass6 UTSW 3 116603523 critical splice donor site probably null
R1557:Sass6 UTSW 3 116618732 missense possibly damaging 0.62
R1681:Sass6 UTSW 3 116603473 missense possibly damaging 0.87
R1742:Sass6 UTSW 3 116607477 missense probably damaging 1.00
R1958:Sass6 UTSW 3 116610296 missense possibly damaging 0.84
R4839:Sass6 UTSW 3 116610300 missense probably damaging 0.99
R5087:Sass6 UTSW 3 116610298 missense probably damaging 1.00
R5225:Sass6 UTSW 3 116614053 missense possibly damaging 0.87
R5508:Sass6 UTSW 3 116620103 missense probably benign 0.00
R5615:Sass6 UTSW 3 116607486 missense probably benign
R5642:Sass6 UTSW 3 116607496 critical splice donor site probably null
R6478:Sass6 UTSW 3 116621397 missense probably benign 0.01
R6781:Sass6 UTSW 3 116595124 unclassified probably benign
R7457:Sass6 UTSW 3 116620164 missense probably benign 0.17
R7926:Sass6 UTSW 3 116628770 missense possibly damaging 0.82
R8836:Sass6 UTSW 3 116613949 missense possibly damaging 0.94
R8854:Sass6 UTSW 3 116605735 missense possibly damaging 0.93
R8941:Sass6 UTSW 3 116614060 missense probably benign 0.00
Posted On2012-12-06