Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02212:Cep170'

285530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep170

Ensembl Gene

ENSMUSG00000057335

Gene Name

centrosomal protein 170

Synonyms

4933426L22Rik, A330004A13Rik

Accession Numbers

Ncbi RefSeq: NM_001099637.2; MGI:1918348

Is this an essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

176733653-176814067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 176735936 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1504 (N1504I)

Ref Sequence

ENSEMBL: ENSMUSP00000141793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192927] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057037
AA Change: N1494I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: N1494I

Domain	Start	End	E-Value	Type
FHA	22	73	1.27e-7	SMART
low complexity region	118	133	N/A	INTRINSIC
low complexity region	717	731	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC
low complexity region	770	782	N/A	INTRINSIC
Pfam:CEP170_C	801	1496	3.3e-264	PFAM
low complexity region	1533	1545	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192664

Predicted Effect

probably damaging
Transcript: ENSMUST00000192927
AA Change: N703I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: N703I

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:CEP170_C	30	469	3.4e-129	PFAM
Pfam:CEP170_C	449	708	7.4e-102	PFAM
low complexity region	742	754	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000192991
AA Change: N261I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194489

Predicted Effect

probably damaging
Transcript: ENSMUST00000194727
AA Change: N1504I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: N1504I

Domain	Start	End	E-Value	Type
FHA	22	73	1.27e-7	SMART
low complexity region	118	133	N/A	INTRINSIC
low complexity region	717	731	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC
low complexity region	770	782	N/A	INTRINSIC
Pfam:CEP170_C	795	1509	8e-260	PFAM
low complexity region	1543	1555	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194984

Predicted Effect

probably benign
Transcript: ENSMUST00000195433

SMART Domains

Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335

Domain	Start	End	E-Value	Type
FHA	22	73	6.1e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195717
AA Change: N1494I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: N1494I

Domain	Start	End	E-Value	Type
FHA	22	73	1.27e-7	SMART
low complexity region	118	133	N/A	INTRINSIC
low complexity region	717	731	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC
low complexity region	770	782	N/A	INTRINSIC
Pfam:CEP170_C	795	1499	1.8e-261	PFAM
low complexity region	1533	1545	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(29) : Gene trapped(29)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,248,889	D1079V	probably damaging	Het
Adam18	T	C	8: 24,637,179	H467R	probably benign	Het
Ambra1	T	G	2: 91,917,361	D1056E	probably damaging	Het
Aoah	A	C	13: 21,002,901	N456T	probably benign	Het
Batf2	T	A	19: 6,171,961	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,594,409	V397I	probably benign	Het
Bbs9	T	A	9: 22,812,512	D824E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Brip1	A	T	11: 86,139,015	V601E	possibly damaging	Het
Bub1	A	G	2: 127,805,351	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345	D606E	possibly damaging	Het
Cenps	T	G	4: 149,128,846	D54A	probably damaging	Het
Cttnbp2	A	G	6: 18,382,749	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,210,171	S667T	probably benign	Het
Dgkb	A	G	12: 38,139,414	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,120,641	D107G	probably benign	Het
Drd3	A	T	16: 43,762,312	N56I	probably benign	Het
Elavl4	T	A	4: 110,206,412	I331F	probably damaging	Het
Fam167a	T	G	14: 63,462,629	S213A	probably damaging	Het
Fasn	A	T	11: 120,807,903	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,811	K587E	probably damaging	Het
Fscn2	A	G	11: 120,362,055	D116G	probably damaging	Het
Galm	T	C	17: 80,150,117	V194A	probably benign	Het
Gm14851	C	T	8: 21,095,260		probably benign	Het
Gpr180	T	A	14: 118,160,176	F361I	probably damaging	Het
Gpx2	A	T	12: 76,792,908	C105*	probably null	Het
Gsdmc2	A	T	15: 63,828,062		probably benign	Het
Hes2	T	G	4: 152,160,525	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,242,797		probably benign	Het
Inhbb	A	T	1: 119,417,983	V192D	probably benign	Het
Itgal	A	T	7: 127,300,980	M137L	probably benign	Het
Jak2	A	G	19: 29,287,982	N470D	probably benign	Het
Jph1	T	C	1: 17,091,757	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,832,487	I237N	probably damaging	Het
Kctd8	G	T	5: 69,340,688	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,250,766	N37I	probably damaging	Het
Lrp2	T	A	2: 69,451,264	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,807,048		probably benign	Het
Man2a2	A	C	7: 80,362,308	D700E	probably benign	Het
Mast1	A	T	8: 84,921,397	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165	D299G	probably damaging	Het
Mptx2	T	A	1: 173,274,681	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,443,817		probably null	Het
Mup21	T	G	4: 62,148,592	E137A	probably damaging	Het
Mutyh	T	A	4: 116,815,606	V52D	probably damaging	Het
Nalcn	T	A	14: 123,515,330	S340C	probably damaging	Het
Neb	A	G	2: 52,308,311	Y474H	probably damaging	Het
Nol8	A	G	13: 49,662,150	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,644,849	D145G	possibly damaging	Het
Nup93	G	A	8: 94,311,662		probably null	Het
Olfr133	C	A	17: 38,148,855	T89K	probably benign	Het
Olfr1384	A	T	11: 49,513,910	I91F	probably damaging	Het
Olfr346	A	G	2: 36,688,182	Y60C	probably damaging	Het
Olfr691	C	T	7: 105,337,143	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,356,412	V40E	possibly damaging	Het
Peg3	C	T	7: 6,711,416	R269H	probably benign	Het
Piwil1	T	A	5: 128,750,270	F648I	possibly damaging	Het
Psd4	A	T	2: 24,405,314	K827*	probably null	Het
Retsat	T	A	6: 72,601,710	L135*	probably null	Het
Rtp3	A	G	9: 110,987,321		probably benign	Het
Samd14	A	G	11: 95,023,350	Y305C	probably damaging	Het
Satb1	T	A	17: 51,775,291	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,617,209	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,667,470	I413N	possibly damaging	Het
Slu7	A	T	11: 43,440,642	Q201L	probably benign	Het
Spg11	T	C	2: 122,108,157	T439A	probably benign	Het
Sstr5	A	T	17: 25,491,673	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,138,786	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,680,142	V758I	probably damaging	Het
Ttll8	C	A	15: 88,917,247	V413L	probably benign	Het
Wiz	T	C	17: 32,368,135	D67G	probably damaging	Het

Other mutations in Cep170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Cep170	APN	1	176755399	missense	probably damaging	1.00
IGL00925:Cep170	APN	1	176793524	missense	probably damaging	1.00
IGL00972:Cep170	APN	1	176735696	missense	probably benign	0.00
IGL01488:Cep170	APN	1	176756375	missense	probably benign	0.00
IGL01916:Cep170	APN	1	176739910	splice site	probably benign
IGL02269:Cep170	APN	1	176769366	missense	probably benign
IGL02732:Cep170	APN	1	176736874	missense	probably damaging	1.00
IGL02740:Cep170	APN	1	176793600	missense	probably damaging	1.00
IGL02812:Cep170	APN	1	176742514	missense	probably damaging	1.00
IGL03036:Cep170	APN	1	176769337	missense	possibly damaging	0.87
IGL03201:Cep170	APN	1	176736888	missense	probably damaging	1.00
IGL03333:Cep170	APN	1	176769526	missense	possibly damaging	0.64
PIT4520001:Cep170	UTSW	1	176780199	missense	unknown
R0031:Cep170	UTSW	1	176756091	missense	probably damaging	1.00
R0039:Cep170	UTSW	1	176782495	critical splice donor site	probably null
R0053:Cep170	UTSW	1	176782380	missense	possibly damaging	0.82
R0053:Cep170	UTSW	1	176782380	missense	possibly damaging	0.82
R0113:Cep170	UTSW	1	176758455	missense	probably damaging	0.97
R0144:Cep170	UTSW	1	176792595	missense	probably benign	0.01
R0613:Cep170	UTSW	1	176774680	missense	probably benign
R0755:Cep170	UTSW	1	176755753	missense	probably damaging	1.00
R1132:Cep170	UTSW	1	176750037	missense	probably damaging	1.00
R1367:Cep170	UTSW	1	176735724	missense	probably damaging	0.99
R1399:Cep170	UTSW	1	176758403	missense	probably damaging	0.98
R1462:Cep170	UTSW	1	176756645	missense	possibly damaging	0.46
R1462:Cep170	UTSW	1	176756645	missense	possibly damaging	0.46
R1481:Cep170	UTSW	1	176782385	missense	possibly damaging	0.56
R1526:Cep170	UTSW	1	176788505	missense	probably damaging	1.00
R1540:Cep170	UTSW	1	176739932	missense	probably damaging	1.00
R1552:Cep170	UTSW	1	176782494	splice site	probably benign
R1570:Cep170	UTSW	1	176755801	missense	possibly damaging	0.64
R1846:Cep170	UTSW	1	176755769	missense	probably damaging	1.00
R1884:Cep170	UTSW	1	176774679	missense	probably benign	0.12
R1945:Cep170	UTSW	1	176793534	nonsense	probably null
R1954:Cep170	UTSW	1	176756384	missense	probably benign
R1957:Cep170	UTSW	1	176769447	missense	probably benign	0.24
R2184:Cep170	UTSW	1	176756976	missense	probably benign	0.00
R2280:Cep170	UTSW	1	176774505	missense	probably benign	0.17
R2426:Cep170	UTSW	1	176774635	missense	probably benign
R3415:Cep170	UTSW	1	176756044	missense	probably damaging	1.00
R3417:Cep170	UTSW	1	176756044	missense	probably damaging	1.00
R3752:Cep170	UTSW	1	176782495	critical splice donor site	probably benign
R3848:Cep170	UTSW	1	176755843	missense	probably benign	0.14
R3849:Cep170	UTSW	1	176755843	missense	probably benign	0.14
R4752:Cep170	UTSW	1	176756688	missense	probably benign	0.00
R4910:Cep170	UTSW	1	176782263	missense	possibly damaging	0.94
R5007:Cep170	UTSW	1	176769814	missense	probably benign	0.28
R5052:Cep170	UTSW	1	176793551	missense	probably damaging	1.00
R5093:Cep170	UTSW	1	176769330	missense	possibly damaging	0.95
R5530:Cep170	UTSW	1	176769510	missense	probably benign	0.00
R5622:Cep170	UTSW	1	176735867	missense	possibly damaging	0.64
R5892:Cep170	UTSW	1	176755387	unclassified	probably null
R5942:Cep170	UTSW	1	176756419	missense	probably damaging	1.00
R6083:Cep170	UTSW	1	176774625	missense	probably damaging	1.00
R6091:Cep170	UTSW	1	176755831	missense	probably damaging	0.98
R6190:Cep170	UTSW	1	176782409	missense	probably damaging	1.00
R6253:Cep170	UTSW	1	176780394	missense	possibly damaging	0.71
R6476:Cep170	UTSW	1	176780351	missense	possibly damaging	0.72
R6622:Cep170	UTSW	1	176756332	missense	probably damaging	1.00
R6932:Cep170	UTSW	1	176761437	missense	possibly damaging	0.90
R7030:Cep170	UTSW	1	176756485	missense	probably damaging	0.99
R7163:Cep170	UTSW	1	176774465	missense	probably damaging	1.00
R7352:Cep170	UTSW	1	176769857	missense	probably benign	0.11
R7499:Cep170	UTSW	1	176774462	missense	probably damaging	1.00
R7502:Cep170	UTSW	1	176756029	missense	probably damaging	1.00
R7773:Cep170	UTSW	1	176740076	missense
R8043:Cep170	UTSW	1	176769242	missense	probably damaging	0.96

Posted On

2015-04-16