Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Sass6'

31399

Institutional Source

Beutler Lab

Gene Symbol

Sass6

Ensembl Gene

ENSMUSG00000027959

Gene Name

SAS-6 centriolar assembly protein

Synonyms

2810453L12Rik

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116594982-116631004 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 116607308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Sass6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9047:Sass6	UTSW	3	116613998	missense	probably damaging	0.99
R9285:Sass6	UTSW	3	116628705	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGGACCATGCTTCATTCCACACC -3'
(R):5'- GGATGCTAAGCTGCTCAACTGCTG -3'

Sequencing Primer
(F):5'- ACACCCCAACATACTCCTGTTTC -3'
(R):5'- CTAGTTCTAGACTGAGTTATAGGCAG -3'

Posted On

2013-04-24