Mutagenetix > Incidental Mutation

Incidental Mutation 'R8836:Sass6'

674135

Institutional Source

Beutler Lab

Gene Symbol

Sass6

Ensembl Gene

ENSMUSG00000027959

Gene Name

SAS-6 centriolar assembly protein

Synonyms

2810453L12Rik

MMRRC Submission

068664-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R8836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116388631-116424653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116407598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 238 (E238V)

Ref Sequence

ENSEMBL: ENSMUSP00000143233 (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

possibly damaging
Transcript: ENSMUST00000197335
AA Change: E203V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: E203V

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

possibly damaging
Transcript: ENSMUST00000198311
AA Change: E238V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: E238V

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 damaging
Transcript: ENSMUST00000198386
AA Change: E238V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: E238V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4m1	T	A	5: 138,173,061 (GRCm39)	I134N	probably damaging	Het
Cacna1b	A	G	2: 24,542,982 (GRCm39)	V1294A	possibly damaging	Het
Carmil1	A	T	13: 24,339,029 (GRCm39)	S160T	probably damaging	Het
Ccdc7b	C	A	8: 129,857,512 (GRCm39)		probably benign	Het
Chd9	T	G	8: 91,767,812 (GRCm39)	N2436K	probably damaging	Het
Cradd	G	A	10: 95,158,462 (GRCm39)	A95V	probably benign	Het
Cttnbp2	T	G	6: 18,375,952 (GRCm39)	E1529A	probably damaging	Het
Cyp11b1	T	C	15: 74,710,387 (GRCm39)	I305V	possibly damaging	Het
Cyp2j6	A	T	4: 96,411,983 (GRCm39)	N428K	probably damaging	Het
Cyp3a44	A	T	5: 145,731,728 (GRCm39)	S139R	probably damaging	Het
Dysf	C	T	6: 84,093,105 (GRCm39)	R1073C	probably damaging	Het
Ei24	A	G	9: 36,701,498 (GRCm39)	F23S		Het
Enam	T	C	5: 88,639,124 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,531,196 (GRCm39)	C163S	probably benign	Het
Fam76b	T	A	9: 13,755,381 (GRCm39)	F329L	probably benign	Het
Gatad2b	G	A	3: 90,263,507 (GRCm39)	A535T	probably damaging	Het
Gm5622	T	A	14: 51,796,770 (GRCm39)		probably benign	Het
Gm9195	C	A	14: 72,695,830 (GRCm39)	A1401S	probably benign	Het
Greb1l	A	T	18: 10,509,257 (GRCm39)	H523L	probably benign	Het
Grhl3	T	A	4: 135,288,640 (GRCm39)	N15I	probably damaging	Het
Gsta3	A	T	1: 21,330,283 (GRCm39)	Y95F	probably benign	Het
Htr1f	C	A	16: 64,747,196 (GRCm39)	G32V	probably benign	Het
Il18r1	C	A	1: 40,535,016 (GRCm39)	Q404K	probably benign	Het
Izumo3	A	T	4: 92,033,216 (GRCm39)		probably null	Het
Kctd19	T	A	8: 106,112,028 (GRCm39)	I806F	probably damaging	Het
Lama4	G	T	10: 38,902,587 (GRCm39)	C187F	probably damaging	Het
Lamp3	T	G	16: 19,519,788 (GRCm39)	I132L	probably benign	Het
Ly9	A	T	1: 171,432,559 (GRCm39)	Y151*	probably null	Het
Lztr1	T	C	16: 17,343,402 (GRCm39)	L474P	probably benign	Het
Mcm9	A	T	10: 53,502,130 (GRCm39)	Y79N		Het
Mocs2	T	A	13: 114,961,760 (GRCm39)	N80K	possibly damaging	Het
Mrgbp	T	A	2: 180,224,712 (GRCm39)	C38S	probably benign	Het
Ncs1	G	T	2: 31,136,159 (GRCm39)		probably benign	Het
Or51a10	G	A	7: 103,699,055 (GRCm39)	P169S	probably benign	Het
Or8k17	T	C	2: 86,066,888 (GRCm39)	N90S	probably benign	Het
Pakap	A	G	4: 57,709,916 (GRCm39)	D287G	probably benign	Het
Pax5	A	T	4: 44,645,621 (GRCm39)	V236E	probably benign	Het
Pcdhgb5	A	G	18: 37,865,260 (GRCm39)	I352V	probably benign	Het
Pik3r5	A	G	11: 68,385,104 (GRCm39)	T670A	probably benign	Het
Plxna2	T	A	1: 194,479,243 (GRCm39)	N1301K	possibly damaging	Het
Pou2af3	A	G	9: 51,182,104 (GRCm39)	L156P	probably damaging	Het
Pou5f2	G	A	13: 78,173,886 (GRCm39)	G276D	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Pramel17	T	C	4: 101,693,022 (GRCm39)	K326R	probably benign	Het
Prkdc	C	A	16: 15,545,523 (GRCm39)	R1880S	probably damaging	Het
Rbfox1	T	A	16: 7,227,605 (GRCm39)	D373E	probably benign	Het
Rbm24	A	G	13: 46,582,780 (GRCm39)	D233G	probably damaging	Het
Rbp3	A	T	14: 33,680,588 (GRCm39)	E1063D	possibly damaging	Het
Rc3h2	A	G	2: 37,267,941 (GRCm39)	V939A	possibly damaging	Het
Relb	C	A	7: 19,345,799 (GRCm39)	V385L	possibly damaging	Het
Robo4	T	G	9: 37,317,130 (GRCm39)	S482A	unknown	Het
Ryr1	A	C	7: 28,774,091 (GRCm39)	L2426R	probably damaging	Het
Ski	T	C	4: 155,245,047 (GRCm39)	I400V	probably benign	Het
Slc27a2	C	A	2: 126,416,656 (GRCm39)	A336D		Het
Slc30a3	T	C	5: 31,250,668 (GRCm39)	T12A	possibly damaging	Het
Slc6a6	T	C	6: 91,725,444 (GRCm39)	V447A	probably damaging	Het
Smad1	T	A	8: 80,098,554 (GRCm39)	I87F	probably damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Sytl3	C	A	17: 6,973,410 (GRCm39)	T237N	possibly damaging	Het
Tdrd7	A	G	4: 45,987,570 (GRCm39)	T68A	probably damaging	Het
Tex56	T	A	13: 35,116,526 (GRCm39)	W92R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem238	A	G	7: 4,792,520 (GRCm39)	C8R	possibly damaging	Het
Ubxn2b	A	T	4: 6,216,061 (GRCm39)	Q328L	probably damaging	Het
Vmn1r226	A	G	17: 20,908,133 (GRCm39)	T122A	probably benign	Het
Vps13d	A	G	4: 144,882,648 (GRCm39)	F982L		Het
Xpo4	T	C	14: 57,902,367 (GRCm39)	E16G	probably benign	Het
Zbtb17	T	A	4: 141,189,233 (GRCm39)	M51K	possibly damaging	Het
Zdhhc1	A	G	8: 106,200,173 (GRCm39)	F315S	probably benign	Het
Zfp568	C	T	7: 29,722,459 (GRCm39)	T468M	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
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
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'- ACCTGCTCTTTCGTGAAATCTG -3'
(R):5'- TCTGTGCAGAGCATCCAAGG -3'

Sequencing Primer
(F):5'- TGCTCTTTCGTGAAATCTGTAATTAG -3'
(R):5'- GCCACTGAGCAGCACAGTAG -3'

Posted On

2021-07-15