Incidental Mutation 'R5087:Sass6'
ID 387498
Institutional Source Beutler Lab
Gene Symbol Sass6
Ensembl Gene ENSMUSG00000027959
Gene Name SAS-6 centriolar assembly protein
Synonyms 2810453L12Rik
MMRRC Submission 042676-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R5087 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 116388631-116424653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116403947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 195 (L195P)
Ref Sequence ENSEMBL: ENSMUSP00000143175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029571] [ENSMUST00000041524] [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 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 probably damaging
Transcript: ENSMUST00000197335
AA Change: L160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: L160P

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: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: L195P

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: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: L195P

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A G 1: 9,631,851 (GRCm39) probably benign Het
Anln T C 9: 22,286,340 (GRCm39) T322A possibly damaging Het
Best3 A T 10: 116,844,907 (GRCm39) Y354F probably benign Het
Cd44 C T 2: 102,661,699 (GRCm39) V509I possibly damaging Het
Cdk5rap1 T C 2: 154,184,315 (GRCm39) N529S probably damaging Het
Cnst A G 1: 179,450,378 (GRCm39) D614G possibly damaging Het
Cpq T C 15: 33,213,008 (GRCm39) I9T probably benign Het
Cyp2j6 T C 4: 96,419,936 (GRCm39) H265R probably damaging Het
Dctn1 T A 6: 83,168,621 (GRCm39) M458K probably damaging Het
Disc1 A C 8: 125,858,899 (GRCm39) I454L probably benign Het
Dnaja4 A G 9: 54,607,023 (GRCm39) E4G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eipr1 C A 12: 28,878,855 (GRCm39) N136K probably benign Het
Fut11 A G 14: 20,746,229 (GRCm39) N357S probably damaging Het
Gbp2b C T 3: 142,304,015 (GRCm39) P37S probably damaging Het
Ghr T G 15: 3,349,622 (GRCm39) K519Q probably damaging Het
Gipr C A 7: 18,893,689 (GRCm39) C328F probably damaging Het
Gm27013 A T 6: 130,654,633 (GRCm39) N276K probably damaging Het
Got2 C A 8: 96,598,951 (GRCm39) K150N probably benign Het
Gucy2c A G 6: 136,744,033 (GRCm39) S189P possibly damaging Het
H2-T5 C A 17: 36,476,308 (GRCm39) G347* probably null Het
Hells T C 19: 38,932,189 (GRCm39) V153A probably benign Het
Ighd G A 12: 113,378,047 (GRCm39) probably benign Het
Inhca C T 9: 103,143,420 (GRCm39) V361M probably damaging Het
Itga4 A C 2: 79,145,973 (GRCm39) D725A possibly damaging Het
Itgbl1 T A 14: 124,204,151 (GRCm39) L414Q possibly damaging Het
Kat2b-ps A G 5: 93,539,585 (GRCm39) noncoding transcript Het
Lrrc1 A T 9: 77,364,740 (GRCm39) S192T probably benign Het
Mc2r A T 18: 68,541,274 (GRCm39) N6K probably benign Het
Moxd2 A C 6: 40,856,270 (GRCm39) L534W probably damaging Het
Myh4 A T 11: 67,146,235 (GRCm39) D1431V probably damaging Het
Naa15 T A 3: 51,364,706 (GRCm39) probably null Het
Naa16 G A 14: 79,614,855 (GRCm39) T215I possibly damaging Het
Ntng1 A T 3: 110,042,645 (GRCm39) Y60* probably null Het
Or1e29 T C 11: 73,668,084 (GRCm39) Y23C possibly damaging Het
Or2g25 A T 17: 37,970,612 (GRCm39) V204E probably damaging Het
Pccb T C 9: 100,867,296 (GRCm39) probably benign Het
Pcnx1 C A 12: 82,041,713 (GRCm39) P2115Q probably damaging Het
Pfkfb3 G A 2: 11,488,825 (GRCm39) T313I probably damaging Het
Pld1 A G 3: 28,178,731 (GRCm39) N875S probably damaging Het
Ptpn20 A T 14: 33,336,398 (GRCm39) D79V possibly damaging Het
Rabgap1l C A 1: 160,549,809 (GRCm39) V266L probably damaging Het
Reep6 A G 10: 80,171,009 (GRCm39) D295G probably damaging Het
Slc25a27 A G 17: 43,977,821 (GRCm39) S25P probably damaging Het
Smok2b T A 17: 13,454,011 (GRCm39) M57K probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sspo T C 6: 48,465,405 (GRCm39) V71A possibly damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Stard9 T A 2: 120,527,500 (GRCm39) Y1252* probably null Het
Syde2 T A 3: 145,712,881 (GRCm39) D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tmc5 G A 7: 118,244,609 (GRCm39) A496T possibly damaging Het
Ttn A G 2: 76,566,704 (GRCm39) V28063A probably damaging Het
Usp25 A C 16: 76,874,007 (GRCm39) I528L probably benign Het
Vmn1r58 C T 7: 5,413,666 (GRCm39) S188N probably benign Het
Wfikkn2 A T 11: 94,129,173 (GRCm39) C323S probably damaging Het
Zfy1 A C Y: 732,964 (GRCm39) S290A unknown 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
R5225:Sass6 UTSW 3 116,407,702 (GRCm39) missense possibly damaging 0.87
R5508:Sass6 UTSW 3 116,413,752 (GRCm39) missense probably benign 0.00
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'- TCTCATGTGCGGGAAAAGCC -3'
(R):5'- GCCAATGCTGACTACATAATCTTTG -3'

Sequencing Primer
(F):5'- CCTCGAGTGTGTACTAAAGAGCTG -3'
(R):5'- CATTTTCCAGTGGCCTGT -3'
Posted On 2016-06-06