Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01571:Cep164'

93294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

45766946-45828691 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45794338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 127 (Q127R)

Ref Sequence

ENSEMBL: ENSMUSP00000150742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117194] [ENSMUST00000213154] [ENSMUST00000216284] [ENSMUST00000217554]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117194
AA Change: Q287R

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: Q287R

Domain	Start	End	E-Value	Type
WW	57	89	1.99e-3	SMART
low complexity region	110	127	N/A	INTRINSIC
low complexity region	189	201	N/A	INTRINSIC
low complexity region	210	229	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
coiled coil region	511	735	N/A	INTRINSIC
low complexity region	741	756	N/A	INTRINSIC
coiled coil region	761	931	N/A	INTRINSIC
low complexity region	956	962	N/A	INTRINSIC
coiled coil region	1057	1084	N/A	INTRINSIC
low complexity region	1095	1110	N/A	INTRINSIC
low complexity region	1141	1168	N/A	INTRINSIC
low complexity region	1185	1195	N/A	INTRINSIC
low complexity region	1235	1248	N/A	INTRINSIC
low complexity region	1309	1318	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000132430
AA Change: Q65R

SMART Domains

Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: Q65R

Domain	Start	End	E-Value	Type
low complexity region	141	154	N/A	INTRINSIC
coiled coil region	325	612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213154
AA Change: Q840R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215216

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216284
AA Change: Q127R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217022

Predicted Effect

probably benign
Transcript: ENSMUST00000217554

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Tekt4	A	G	17: 25,476,384	D397G	probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Cep164

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Cep164	APN	9	45775256	missense	possibly damaging	0.46
IGL01985:Cep164	APN	9	45779606	missense	probably damaging	1.00
IGL01989:Cep164	APN	9	45793015	splice site	probably benign
IGL02130:Cep164	APN	9	45779792	missense	possibly damaging	0.82
IGL02598:Cep164	APN	9	45770704	missense	probably damaging	1.00
IGL03206:Cep164	APN	9	45802725	missense	probably benign	0.00
R0063:Cep164	UTSW	9	45768618	missense	possibly damaging	0.83
R0109:Cep164	UTSW	9	45771587	missense	probably damaging	1.00
R0528:Cep164	UTSW	9	45776936	unclassified	probably benign
R0532:Cep164	UTSW	9	45809826	nonsense	probably null
R1445:Cep164	UTSW	9	45778900	missense	possibly damaging	0.66
R1753:Cep164	UTSW	9	45792937	missense	probably damaging	0.99
R1824:Cep164	UTSW	9	45778928	missense	probably damaging	1.00
R1856:Cep164	UTSW	9	45775758	splice site	probably null
R1858:Cep164	UTSW	9	45823640	splice site	probably benign
R1900:Cep164	UTSW	9	45809825	missense	probably damaging	1.00
R1911:Cep164	UTSW	9	45770806	missense	probably benign	0.09
R2032:Cep164	UTSW	9	45771600	missense	probably damaging	1.00
R2133:Cep164	UTSW	9	45803183	missense	probably damaging	1.00
R2186:Cep164	UTSW	9	45768578	missense	probably damaging	1.00
R2511:Cep164	UTSW	9	45775249	missense	probably damaging	1.00
R4424:Cep164	UTSW	9	45779704	missense	possibly damaging	0.92
R5126:Cep164	UTSW	9	45787424	critical splice donor site	probably null
R5997:Cep164	UTSW	9	45769463	missense	possibly damaging	0.92
R6186:Cep164	UTSW	9	45794109	missense	probably damaging	0.98
R6357:Cep164	UTSW	9	45770884	missense	probably damaging	1.00
R6385:Cep164	UTSW	9	45779783	missense	probably damaging	0.99
R6632:Cep164	UTSW	9	45779790	missense	possibly damaging	0.66
R6957:Cep164	UTSW	9	45772280	critical splice donor site	probably null
R7310:Cep164	UTSW	9	45775366	missense	probably damaging	1.00
R7420:Cep164	UTSW	9	45768542	missense	probably benign	0.01
R7651:Cep164	UTSW	9	45773852	missense	probably benign	0.18
R7918:Cep164	UTSW	9	45779688	critical splice donor site	probably null
R7982:Cep164	UTSW	9	45778864	missense	probably benign	0.40
R8010:Cep164	UTSW	9	45823671	missense	unknown
R8391:Cep164	UTSW	9	45807193	missense	unknown
R8553:Cep164	UTSW	9	45807210	unclassified	probably benign
R8700:Cep164	UTSW	9	45775369	critical splice acceptor site	probably null
R9177:Cep164	UTSW	9	45779762	missense	probably damaging	1.00
R9348:Cep164	UTSW	9	45806410	missense	unknown
X0024:Cep164	UTSW	9	45775863	critical splice donor site	probably null
X0028:Cep164	UTSW	9	45770967	missense	probably damaging	1.00
X0065:Cep164	UTSW	9	45774787	missense	probably benign	0.03

Posted On

2013-12-09