Mutagenetix > Incidental Mutation

Incidental Mutation 'R1557:Sass6'

170326

Institutional Source

Beutler Lab

Gene Symbol

Sass6

Ensembl Gene

ENSMUSG00000027959

Gene Name

SAS-6 centriolar assembly protein

Synonyms

2810453L12Rik

MMRRC Submission

039596-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R1557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116388631-116424653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116412381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 385 (E385D)

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

noncoding transcript
Transcript: ENSMUST00000196619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197063

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197335
AA Change: E350D

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
AA Change: E350D

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

noncoding transcript
Transcript: ENSMUST00000198103

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198311
AA Change: E385D

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
AA Change: E385D

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

possibly damaging
Transcript: ENSMUST00000198386
AA Change: E385D

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
AA Change: E385D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (75/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	C	1: 53,221,025 (GRCm39)	D68E	possibly damaging	Het
Abca3	T	C	17: 24,618,954 (GRCm39)	V870A	possibly damaging	Het
Aldh3a2	A	T	11: 61,139,885 (GRCm39)	F416I	probably damaging	Het
Armc6	A	T	8: 70,678,098 (GRCm39)	L77Q	possibly damaging	Het
Asb17	A	G	3: 153,556,570 (GRCm39)	I226V	probably benign	Het
Aspm	A	G	1: 139,396,406 (GRCm39)	I862V	probably benign	Het
Atr	T	A	9: 95,753,502 (GRCm39)	D701E	probably damaging	Het
Baz1b	C	T	5: 135,247,097 (GRCm39)	L849F	possibly damaging	Het
Cbr1	T	C	16: 93,405,677 (GRCm39)	V97A	probably benign	Het
Cep295	G	A	9: 15,243,306 (GRCm39)	Q1669*	probably null	Het
Cfap54	T	C	10: 92,820,089 (GRCm39)	T1242A	possibly damaging	Het
Chrm3	T	A	13: 9,928,350 (GRCm39)	T229S	possibly damaging	Het
Cimip4	C	A	15: 78,270,474 (GRCm39)	R98M	probably damaging	Het
Cnga3	A	G	1: 37,300,066 (GRCm39)	Y300C	probably damaging	Het
Col14a1	A	C	15: 55,251,975 (GRCm39)	I544L	unknown	Het
Crocc	T	C	4: 140,752,776 (GRCm39)	E1208G	probably damaging	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Dcbld2	T	C	16: 58,285,713 (GRCm39)	I624T	possibly damaging	Het
Ddah1	A	C	3: 145,597,227 (GRCm39)	I258L	probably benign	Het
Dnah6	G	A	6: 73,026,114 (GRCm39)	Q3460*	probably null	Het
Dync2h1	T	A	9: 7,140,911 (GRCm39)	D1372V	probably damaging	Het
Egln1	G	A	8: 125,674,980 (GRCm39)	R272*	probably null	Het
Elf1	A	G	14: 79,804,620 (GRCm39)	D95G	possibly damaging	Het
Fkbp5	A	G	17: 28,621,729 (GRCm39)	F374L	probably damaging	Het
Fli1	T	C	9: 32,372,540 (GRCm39)		probably benign	Het
Gabbr2	T	C	4: 46,846,436 (GRCm39)	T158A	probably damaging	Het
Gp2	A	C	7: 119,049,302 (GRCm39)	Y412D	probably damaging	Het
Hmcn1	A	G	1: 150,610,283 (GRCm39)	V1462A	possibly damaging	Het
Ide	T	C	19: 37,258,160 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,134,648 (GRCm39)	K372R	possibly damaging	Het
Kcnj16	A	G	11: 110,916,067 (GRCm39)	D243G	possibly damaging	Het
Kif7	A	G	7: 79,363,905 (GRCm39)	M1T	probably null	Het
Klri2	A	T	6: 129,709,174 (GRCm39)	L226Q	probably damaging	Het
Kremen1	T	C	11: 5,165,373 (GRCm39)		probably null	Het
Lama3	T	C	18: 12,646,788 (GRCm39)		probably benign	Het
Lmln	C	A	16: 32,908,581 (GRCm39)	R336S	probably benign	Het
Lrch4	T	A	5: 137,635,818 (GRCm39)	D266E	probably benign	Het
Lrrc28	C	T	7: 67,209,677 (GRCm39)	R174H	probably damaging	Het
Mib1	T	A	18: 10,798,474 (GRCm39)	D778E	probably damaging	Het
Msra	T	C	14: 64,360,775 (GRCm39)	I125V	possibly damaging	Het
Or10c1	A	G	17: 37,522,244 (GRCm39)	F167L	probably damaging	Het
Or4k37	T	A	2: 111,158,964 (GRCm39)	S67T	probably damaging	Het
Or4p19	A	T	2: 88,242,555 (GRCm39)	V149E	possibly damaging	Het
Or52e18	A	G	7: 104,609,747 (GRCm39)	F64S	probably damaging	Het
Or6c75	C	A	10: 129,337,491 (GRCm39)	T246N	probably damaging	Het
Or8d23	A	G	9: 38,841,955 (GRCm39)	M163V	possibly damaging	Het
Pes1	T	A	11: 3,926,824 (GRCm39)	Y369N	probably damaging	Het
Pgam2	T	C	11: 5,751,773 (GRCm39)	D221G	possibly damaging	Het
Prl2c5	T	C	13: 13,365,265 (GRCm39)	V137A	possibly damaging	Het
Rasal1	T	A	5: 120,814,914 (GRCm39)	D721E	possibly damaging	Het
Sema5a	A	G	15: 32,460,418 (GRCm39)	R60G	probably benign	Het
Sesn1	T	C	10: 41,779,762 (GRCm39)	S399P	probably damaging	Het
Skic2	G	A	17: 35,067,398 (GRCm39)	L47F	probably damaging	Het
Slc10a2	C	T	8: 5,141,755 (GRCm39)	V210M	probably damaging	Het
Slc8a3	C	T	12: 81,362,331 (GRCm39)	G163S	probably damaging	Het
Sorbs2	T	C	8: 46,212,234 (GRCm39)		probably benign	Het
Speer4f1	T	C	5: 17,684,490 (GRCm39)	W173R	probably damaging	Het
Spon2	C	A	5: 33,374,108 (GRCm39)	G92W	probably damaging	Het
Sycp2	A	T	2: 178,037,009 (GRCm39)		probably benign	Het
Tfb1m	A	G	17: 3,605,241 (GRCm39)	V84A	probably damaging	Het
Tmem18	G	T	12: 30,637,198 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,210 (GRCm39)	L290S	possibly damaging	Het
Tube1	T	G	10: 39,021,711 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,156 (GRCm39)		probably null	Het
Unc93b1	T	A	19: 3,992,403 (GRCm39)	Y269N	probably benign	Het
Usp16	T	C	16: 87,259,030 (GRCm39)		probably null	Het
Vmn1r38	A	T	6: 66,753,370 (GRCm39)	S249T	probably benign	Het
Vmn1r42	T	A	6: 89,821,733 (GRCm39)	M279L	possibly damaging	Het
Zdhhc23	T	A	16: 43,791,829 (GRCm39)	T315S	possibly damaging	Het
Zfp472	T	C	17: 33,194,900 (GRCm39)	F12L	probably benign	Het
Zfr2	T	C	10: 81,083,225 (GRCm39)	S634P	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
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
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'- GCCAAGCAAGAGGTCCTTTCTCTG -3'
(R):5'- AAACTGCCCAGCGTCCTGTGATTC -3'

Sequencing Primer
(F):5'- TCTGGATACTGAATGCCACG -3'
(R):5'- AGCGTCCTGTGATTCCTTTCG -3'

Posted On

2014-04-13