Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Sass6'

440726

Institutional Source

Beutler Lab

Gene Symbol

Sass6

Ensembl Gene

ENSMUSG00000027959

Gene Name

SAS-6 centriolar assembly protein

Synonyms

2810453L12Rik

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116388631-116424653 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 116401145 bp (GRCm39)

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 null
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 null
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 null
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,261,319 (GRCm39)	E699G	probably damaging	Het
Ap4e1	T	A	2: 126,906,899 (GRCm39)	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,558,456 (GRCm39)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,211,480 (GRCm39)	K53N	probably damaging	Het
Bag3	C	T	7: 128,147,830 (GRCm39)	R482W	probably damaging	Het
Brme1	C	T	8: 84,894,114 (GRCm39)	T427I	probably damaging	Het
Cacna1i	A	G	15: 80,279,279 (GRCm39)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,827,372 (GRCm39)	I100F	possibly damaging	Het
Cdh16	A	G	8: 105,344,677 (GRCm39)	F485L	probably damaging	Het
Cdhr5	T	A	7: 140,849,110 (GRCm39)	K817*	probably null	Het
Cfap46	G	T	7: 139,258,493 (GRCm39)	P260Q	probably damaging	Het
Clec11a	C	T	7: 43,955,832 (GRCm39)	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,644,076 (GRCm39)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,370,872 (GRCm39)		probably benign	Het
Cxcr1	G	A	1: 74,230,987 (GRCm39)	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,515,744 (GRCm39)		probably null	Het
Dalrd3	C	T	9: 108,449,489 (GRCm39)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,787,327 (GRCm39)	S3N	probably benign	Het
Ddx41	T	C	13: 55,683,708 (GRCm39)	K108E	possibly damaging	Het
Dnaaf10	A	G	11: 17,177,263 (GRCm39)	N207S	possibly damaging	Het
Ece2	A	T	16: 20,462,477 (GRCm39)	H732L	probably benign	Het
Etv3	T	G	3: 87,443,322 (GRCm39)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,333,985 (GRCm39)	S1070P	probably damaging	Het
Fhip1b	A	T	7: 105,039,089 (GRCm39)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,770,437 (GRCm39)	I125N	unknown	Het
Grm3	A	G	5: 9,620,536 (GRCm39)	L236P	probably benign	Het
Hip1	T	A	5: 135,461,939 (GRCm39)	R97*	probably null	Het
Hoxa5	T	C	6: 52,181,197 (GRCm39)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,292,654 (GRCm39)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,676,229 (GRCm39)	C362S	probably benign	Het
Kif1c	A	G	11: 70,599,273 (GRCm39)	K391E	probably benign	Het
Klf9	T	C	19: 23,119,246 (GRCm39)	V43A	probably benign	Het
Krt28	T	A	11: 99,265,320 (GRCm39)	I116F	probably damaging	Het
Lct	A	T	1: 128,222,969 (GRCm39)	D1439E	probably damaging	Het
Liph	G	A	16: 21,784,745 (GRCm39)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,393,055 (GRCm39)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,564,604 (GRCm39)	Q178R	probably benign	Het
Map1a	T	A	2: 121,136,524 (GRCm39)	S2209T	probably damaging	Het
Map3k21	C	T	8: 126,665,563 (GRCm39)	T584I	probably benign	Het
Map3k6	T	C	4: 132,972,855 (GRCm39)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 25,122,285 (GRCm39)	V699E	possibly damaging	Het
Mtarc1	A	C	1: 184,543,116 (GRCm39)	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,363,452 (GRCm39)	S53P	probably benign	Het
Nt5e	T	C	9: 88,209,740 (GRCm39)	M1T	probably null	Het
Nudt22	T	C	19: 6,972,896 (GRCm39)	H64R	probably damaging	Het
Or1o11	A	T	17: 37,756,663 (GRCm39)	T84S	probably damaging	Het
Or2t44	A	T	11: 58,677,654 (GRCm39)	Y198F	probably damaging	Het
Or2w3	T	C	11: 58,557,225 (GRCm39)	I280T	possibly damaging	Het
Or52b1	A	T	7: 104,978,772 (GRCm39)	V209D	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or8k17	T	C	2: 86,066,276 (GRCm39)	N294S	probably damaging	Het
Otogl	T	C	10: 107,722,413 (GRCm39)	I314V	probably benign	Het
Pan2	G	T	10: 128,143,969 (GRCm39)	E106D	probably benign	Het
Papss1	T	A	3: 131,337,565 (GRCm39)	Y554*	probably null	Het
Pcnx1	T	C	12: 81,941,803 (GRCm39)	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,325,829 (GRCm39)	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,829,202 (GRCm39)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 100,950,678 (GRCm39)	M878I	probably damaging	Het
Ranbp3	G	A	17: 57,017,703 (GRCm39)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,002,157 (GRCm39)	D261G	probably damaging	Het
Reep2	A	G	18: 34,979,271 (GRCm39)	S199G	probably benign	Het
Rnpep	G	A	1: 135,205,259 (GRCm39)	T202I	probably damaging	Het
Sema3e	A	G	5: 14,212,257 (GRCm39)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,697,727 (GRCm39)	E60G	probably damaging	Het
Spata31g1	T	C	4: 42,971,831 (GRCm39)	L388P	possibly damaging	Het
Spata31h1	T	A	10: 82,120,317 (GRCm39)	Q4231L	probably damaging	Het
Sptlc3	T	C	2: 139,388,328 (GRCm39)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,073,925 (GRCm39)	I245T	probably benign	Het
Syne2	T	C	12: 75,965,306 (GRCm39)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,049,617 (GRCm39)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,132,692 (GRCm39)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,026,973 (GRCm39)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,210,725 (GRCm39)	A166E	probably damaging	Het
Tex14	A	G	11: 87,405,046 (GRCm39)	R653G	probably benign	Het
Them6	A	T	15: 74,593,654 (GRCm39)	R171W	probably null	Het
Tln2	T	C	9: 67,203,640 (GRCm39)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,234,427 (GRCm39)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm39)	C469*	probably null	Het
Tpr	T	C	1: 150,299,569 (GRCm39)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,067,143 (GRCm39)	M528V	probably benign	Het
Trpm6	T	A	19: 18,807,571 (GRCm39)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,665,348 (GRCm39)	S5C	probably damaging	Het
Ttn	T	C	2: 76,617,412 (GRCm39)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,435,275 (GRCm39)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,776,206 (GRCm39)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,606,588 (GRCm39)	H253Y	probably benign	Het
Vps13d	A	T	4: 144,896,872 (GRCm39)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,580,381 (GRCm39)	E543G		Het
Zfat	A	T	15: 68,052,765 (GRCm39)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,249,846 (GRCm39)	E139G	unknown	Het
Zfp943	T	A	17: 22,211,813 (GRCm39)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm39)	K677E	probably benign	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
R5615:Sass6	UTSW	3	116,401,135 (GRCm39)	missense	probably benign
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'- CTCACAGGTCTGCAAGTGTG -3'
(R):5'- CTGCTGGTCTAGTTCTAGACTGAG -3'

Sequencing Primer
(F):5'- CTTCAAAGGTTCCTGCTGCAG -3'
(R):5'- TCTAGACTGAGTTATAGGCAGTAGC -3'

Posted On

2016-11-08