Mutagenetix > Incidental Mutation

Incidental Mutation 'R5615:Sass6'

438177

Institutional Source

Beutler Lab

Gene Symbol

Sass6

Ensembl Gene

ENSMUSG00000027959

Gene Name

SAS-6 centriolar assembly protein

Synonyms

2810453L12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R5615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116388631-116424653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116401135 bp (GRCm39)

Zygosity

Heterozygous

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]

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
AA Change: C124S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: C124S

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
AA Change: C159S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: C159S

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
AA Change: C159S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: C159S

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,346,218 (GRCm39)	L884H	probably damaging	Het
Ahr	A	G	12: 35,553,884 (GRCm39)	V745A	probably benign	Het
Ankrd17	A	T	5: 90,431,295 (GRCm39)	S830T	possibly damaging	Het
Aox1	A	G	1: 58,136,125 (GRCm39)	T1123A	probably benign	Het
Arhgef11	T	C	3: 87,629,792 (GRCm39)		probably null	Het
Bcas3	T	A	11: 85,361,587 (GRCm39)	C250S	probably damaging	Het
Bckdk	T	C	7: 127,506,489 (GRCm39)	I272T	probably damaging	Het
Cacna1e	T	C	1: 154,287,916 (GRCm39)	K1897E	probably damaging	Het
Cd180	A	T	13: 102,842,711 (GRCm39)	I586F	probably benign	Het
Cep290	A	G	10: 100,367,012 (GRCm39)	D1121G	probably damaging	Het
Clasrp	A	G	7: 19,320,372 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,199,351 (GRCm39)	K912N	probably damaging	Het
Dock4	G	T	12: 40,699,479 (GRCm39)	R231L	probably benign	Het
Ell	G	A	8: 71,043,382 (GRCm39)	S505N	probably benign	Het
Ephb6	A	G	6: 41,596,225 (GRCm39)	T833A	probably benign	Het
Hemk1	T	A	9: 107,208,023 (GRCm39)		probably null	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hspa12a	T	C	19: 58,793,082 (GRCm39)	I368V	possibly damaging	Het
Igkv3-3	A	T	6: 70,664,214 (GRCm39)	T19S	probably benign	Het
Itpr1	G	A	6: 108,465,561 (GRCm39)	A2158T	possibly damaging	Het
Lancl2	T	C	6: 57,699,496 (GRCm39)	Y104H	probably damaging	Het
Leng8	G	T	7: 4,147,957 (GRCm39)	E634*	probably null	Het
Lrrk1	A	T	7: 65,937,363 (GRCm39)	C930S	probably damaging	Het
Lvrn	C	T	18: 46,983,395 (GRCm39)	S46L	possibly damaging	Het
Mcidas	G	A	13: 113,133,959 (GRCm39)	V148I	probably benign	Het
Mprip	A	T	11: 59,649,313 (GRCm39)	T1006S	probably benign	Het
Mrgprb3	T	A	7: 48,293,234 (GRCm39)	M106L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	G	A	4: 148,622,733 (GRCm39)	V1938I	possibly damaging	Het
Muc2	A	G	7: 141,277,446 (GRCm39)	D46G	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10ag52	T	A	2: 87,044,083 (GRCm39)	F282L	probably benign	Het
Or6c215	A	T	10: 129,637,636 (GRCm39)	C253S	probably damaging	Het
Osbp2	C	T	11: 3,813,356 (GRCm39)	G171D	probably benign	Het
Otud6b	A	T	4: 14,818,187 (GRCm39)	M238K	possibly damaging	Het
Pcdhac2	G	A	18: 37,279,476 (GRCm39)	G819R	probably benign	Het
Pcdhac2	G	T	18: 37,279,477 (GRCm39)	G819V	probably benign	Het
Pcdhga12	T	G	18: 37,901,132 (GRCm39)	S655A	probably damaging	Het
Pkd1l3	A	G	8: 110,356,842 (GRCm39)	I756V	probably benign	Het
Plekhd1	T	A	12: 80,767,364 (GRCm39)	S251T	probably damaging	Het
Ppp2r1a	A	T	17: 21,179,249 (GRCm39)	T96S	probably benign	Het
Qser1	A	C	2: 104,620,039 (GRCm39)	S258A	possibly damaging	Het
Rsph4a	G	A	10: 33,785,324 (GRCm39)	A412T	probably benign	Het
Sanbr	A	T	11: 23,556,759 (GRCm39)	L407H	probably damaging	Het
Scaf4	T	C	16: 90,048,848 (GRCm39)	Q322R	unknown	Het
Sema6d	C	T	2: 124,498,821 (GRCm39)	H244Y	probably damaging	Het
Sigirr	T	G	7: 140,672,632 (GRCm39)	L163F	probably damaging	Het
Spata31d1c	C	A	13: 65,183,078 (GRCm39)	L207I	possibly damaging	Het
Tacstd2	A	G	6: 67,512,033 (GRCm39)	F220L	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tnxb	C	A	17: 34,902,392 (GRCm39)	Q1082K	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,698,192 (GRCm39)		probably benign	Het
Trpm6	C	T	19: 18,807,297 (GRCm39)	R1014C	probably damaging	Het
Ugt1a10	TTCATCA	TTCA	1: 88,143,880 (GRCm39)		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r61	T	A	7: 41,916,677 (GRCm39)	M430K	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp599	T	C	9: 22,165,165 (GRCm39)	D70G	probably benign	Het
Zmym1	A	T	4: 126,943,191 (GRCm39)	I301N	probably damaging	Het

Other mutations in Sass6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5508:Sass6	UTSW	3	116,413,752 (GRCm39)	missense	probably benign	0.00
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'- TCACAGGTCTGCAAGTGTG -3'
(R):5'- CTGCTCAACTGCTGGTCTAG -3'

Sequencing Primer
(F):5'- CACAGGTCTGCAAGTGTGTTATAG -3'
(R):5'- CAACTGCTGGTCTAGTTCTAGACTG -3'

Posted On

2016-10-26