Incidental Mutation 'R5615:Sass6'
ID438177
Institutional Source Beutler Lab
Gene Symbol Sass6
Ensembl Gene ENSMUSG00000027959
Gene NameSAS-6 centriolar assembly protein
Synonyms2810453L12Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #R5615 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location116594982-116631004 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116607486 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 159 (C159S)
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 probably benign
Transcript: ENSMUST00000197335
AA Change: C124S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: C124S

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: C159S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: C159S

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: C159S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: C159S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198514
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,606,759 L407H probably damaging Het
Abca12 A T 1: 71,307,059 L884H probably damaging Het
Ahr A G 12: 35,503,885 V745A probably benign Het
Ankrd17 A T 5: 90,283,436 S830T possibly damaging Het
Aox1 A G 1: 58,096,966 T1123A probably benign Het
Arhgef11 T C 3: 87,722,485 probably null Het
Bcas3 T A 11: 85,470,761 C250S probably damaging Het
Bckdk T C 7: 127,907,317 I272T probably damaging Het
Cacna1e T C 1: 154,412,170 K1897E probably damaging Het
Cd180 A T 13: 102,706,203 I586F probably benign Het
Cep290 A G 10: 100,531,150 D1121G probably damaging Het
Clasrp A G 7: 19,586,447 probably benign Het
Col27a1 G T 4: 63,281,114 K912N probably damaging Het
Dock4 G T 12: 40,649,480 R231L probably benign Het
Ell G A 8: 70,590,732 S505N probably benign Het
Ephb6 A G 6: 41,619,291 T833A probably benign Het
Hemk1 T A 9: 107,330,824 probably null Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hspa12a T C 19: 58,804,650 I368V possibly damaging Het
Igkv3-3 A T 6: 70,687,230 T19S probably benign Het
Itpr1 G A 6: 108,488,600 A2158T possibly damaging Het
Lancl2 T C 6: 57,722,511 Y104H probably damaging Het
Leng8 G T 7: 4,144,958 E634* probably null Het
Lrrk1 A T 7: 66,287,615 C930S probably damaging Het
Lvrn C T 18: 46,850,328 S46L possibly damaging Het
Mcidas G A 13: 112,997,425 V148I probably benign Het
Mprip A T 11: 59,758,487 T1006S probably benign Het
Mrgprb3 T A 7: 48,643,486 M106L probably benign Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Mtor G A 4: 148,538,276 V1938I possibly damaging Het
Muc2 A G 7: 141,691,203 D46G probably damaging Het
Nfkb2 G T 19: 46,307,567 E170D probably benign Het
Olfr1113 T A 2: 87,213,739 F282L probably benign Het
Olfr811 A T 10: 129,801,767 C253S probably damaging Het
Osbp2 C T 11: 3,863,356 G171D probably benign Het
Otud6b A T 4: 14,818,187 M238K possibly damaging Het
Pcdhac2 G A 18: 37,146,423 G819R probably benign Het
Pcdhac2 G T 18: 37,146,424 G819V probably benign Het
Pcdhga12 T G 18: 37,768,079 S655A probably damaging Het
Pkd1l3 A G 8: 109,630,210 I756V probably benign Het
Plekhd1 T A 12: 80,720,590 S251T probably damaging Het
Ppp2r1a A T 17: 20,958,987 T96S probably benign Het
Qser1 A C 2: 104,789,694 S258A possibly damaging Het
Rsph4a G A 10: 33,909,328 A412T probably benign Het
Scaf4 T C 16: 90,251,960 Q322R unknown Het
Sema6d C T 2: 124,656,901 H244Y probably damaging Het
Sigirr T G 7: 141,092,719 L163F probably damaging Het
Spata31d1c C A 13: 65,035,264 L207I possibly damaging Het
Tacstd2 A G 6: 67,535,049 F220L probably damaging Het
Tdpoz4 A T 3: 93,797,499 T368S probably benign Het
Tnxb C A 17: 34,683,418 Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,807,365 probably benign Het
Trpm6 C T 19: 18,829,933 R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,216,158 probably benign Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Vmn2r61 A G 7: 42,300,493 E779G probably damaging Het
Vmn2r61 T A 7: 42,267,253 M430K probably benign Het
Zfp599 T C 9: 22,253,869 D70G probably benign Het
Zmym1 A T 4: 127,049,398 I301N probably damaging Het
Other mutations in Sass6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Sass6 APN 3 116618328 missense probably damaging 1.00
IGL00755: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
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
R9047:Sass6 UTSW 3 116613998 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCACAGGTCTGCAAGTGTG -3'
(R):5'- CTGCTCAACTGCTGGTCTAG -3'

Sequencing Primer
(F):5'- CACAGGTCTGCAAGTGTGTTATAG -3'
(R):5'- CAACTGCTGGTCTAGTTCTAGACTG -3'
Posted On2016-10-26