Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Cep164'

158795

Institutional Source

Beutler Lab

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

MMRRC Submission

039500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1445 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45678244-45739984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45690198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 675 (E675A)

Ref Sequence

ENSEMBL: ENSMUSP00000114053 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117194
AA Change: E675A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: E675A

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: E552A

SMART Domains

Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: E552A

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: E1376A

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216284
AA Change: E515A

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217554

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 116,861,385 (GRCm39)		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,728,793 (GRCm39)	Q17K	probably benign	Het
Abca16	T	C	7: 120,119,256 (GRCm39)	V999A	probably benign	Het
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Agap2	T	A	10: 126,926,981 (GRCm39)		probably benign	Het
Ago3	C	A	4: 126,265,580 (GRCm39)	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,192,492 (GRCm39)	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplnr	A	G	2: 84,967,353 (GRCm39)	Y126C	probably damaging	Het
Apob	T	C	12: 8,066,084 (GRCm39)	I4351T	possibly damaging	Het
Ash1l	T	C	3: 88,914,659 (GRCm39)	L1763P	probably benign	Het
Aspn	T	C	13: 49,710,849 (GRCm39)	S165P	possibly damaging	Het
Atg13	A	T	2: 91,510,335 (GRCm39)	V349E	probably damaging	Het
Atp1b2	T	A	11: 69,493,309 (GRCm39)		probably null	Het
B3glct	A	T	5: 149,677,604 (GRCm39)	D411V	probably damaging	Het
Bcar3	A	T	3: 122,316,840 (GRCm39)	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,608,148 (GRCm39)		probably benign	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chst8	C	A	7: 34,447,593 (GRCm39)	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,212,475 (GRCm39)	E67G	probably benign	Het
Cobll1	A	T	2: 64,929,480 (GRCm39)	D653E	probably damaging	Het
Col9a1	T	C	1: 24,276,579 (GRCm39)		probably null	Het
Crip2	T	C	12: 113,107,124 (GRCm39)	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,418,407 (GRCm39)	V22I	probably benign	Het
Cwc22	T	C	2: 77,747,521 (GRCm39)		probably benign	Het
Cyp4a32	C	A	4: 115,460,147 (GRCm39)	Y119*	probably null	Het
Dido1	G	T	2: 180,313,263 (GRCm39)	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,567,956 (GRCm39)	P1880L	probably benign	Het
Dock2	T	A	11: 34,189,705 (GRCm39)	T1489S	probably benign	Het
Dsp	A	G	13: 38,375,907 (GRCm39)	T1231A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,717 (GRCm39)		probably benign	Het
Entrep1	G	A	19: 23,998,998 (GRCm39)	T140M	probably damaging	Het
Epc1	A	T	18: 6,452,360 (GRCm39)	M233K	probably damaging	Het
Gigyf2	A	G	1: 87,371,360 (GRCm39)		probably benign	Het
Greb1	T	G	12: 16,757,852 (GRCm39)	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,597,649 (GRCm39)	I348T	possibly damaging	Het
Hck	A	T	2: 152,970,192 (GRCm39)	N64Y	probably benign	Het
Herc2	T	C	7: 55,818,744 (GRCm39)	S2812P	probably damaging	Het
Inpp4b	T	A	8: 82,679,463 (GRCm39)		probably null	Het
Kcnq5	A	C	1: 21,475,248 (GRCm39)	S473A	probably benign	Het
Lrat	T	G	3: 82,810,676 (GRCm39)	D115A	probably damaging	Het
Lyst	A	G	13: 13,814,639 (GRCm39)	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,018,310 (GRCm39)	D160G	probably benign	Het
Marf1	C	T	16: 13,933,688 (GRCm39)	D1567N	probably benign	Het
Mars1	T	C	10: 127,133,857 (GRCm39)	D680G	possibly damaging	Het
Mat1a	T	C	14: 40,843,797 (GRCm39)	S339P	probably damaging	Het
Megf8	T	C	7: 25,042,081 (GRCm39)	S1300P	probably damaging	Het
Mga	T	C	2: 119,733,179 (GRCm39)	L9S	probably damaging	Het
Mllt6	T	C	11: 97,563,277 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,921,692 (GRCm39)	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,540,782 (GRCm39)	V248L	probably benign	Het
Mylk	T	C	16: 34,635,835 (GRCm39)	S19P	possibly damaging	Het
Or11g1	A	G	14: 50,651,858 (GRCm39)	T286A	probably damaging	Het
Pacc1	A	G	1: 191,080,559 (GRCm39)		probably benign	Het
Parp8	A	T	13: 117,161,886 (GRCm39)		probably null	Het
Pcnx2	T	C	8: 126,479,023 (GRCm39)	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460 (GRCm39)	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,820,313 (GRCm39)	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,369,040 (GRCm39)	V895A	probably benign	Het
Plcb4	A	T	2: 135,842,109 (GRCm39)	H1031L	possibly damaging	Het
Plxnb1	A	G	9: 108,937,989 (GRCm39)	K1245R	probably null	Het
Pold1	C	T	7: 44,192,181 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,498,423 (GRCm39)	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,473 (GRCm39)	D1398G	probably damaging	Het
Pygm	G	A	19: 6,439,917 (GRCm39)	A364T	probably benign	Het
Rbl1	T	C	2: 157,035,018 (GRCm39)	N354S	probably benign	Het
Scgb2b19	C	T	7: 32,979,037 (GRCm39)		probably null	Het
Slc26a8	C	T	17: 28,867,187 (GRCm39)	V545M	possibly damaging	Het
Slc27a1	T	A	8: 72,036,757 (GRCm39)		probably null	Het
Smpd1	A	G	7: 105,205,881 (GRCm39)	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,431,095 (GRCm39)	V284A	probably benign	Het
Stfa2l1	T	C	16: 35,982,154 (GRCm39)	V75A	probably damaging	Het
Syndig1	A	G	2: 149,772,841 (GRCm39)	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,593,406 (GRCm39)		probably null	Het
Themis2	T	A	4: 132,510,212 (GRCm39)	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,070,129 (GRCm39)	Q586R	probably damaging	Het
Tinag	C	A	9: 76,952,798 (GRCm39)	C62F	probably damaging	Het
Tmod1	T	C	4: 46,090,884 (GRCm39)	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,095,683 (GRCm39)	I54F	possibly damaging	Het
Tnks	A	C	8: 35,301,757 (GRCm39)		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,680,538 (GRCm39)	E844G	probably benign	Het
Ubtd2	C	T	11: 32,466,125 (GRCm39)	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,376,042 (GRCm39)	D373G	probably benign	Het
Upf1	T	A	8: 70,794,174 (GRCm39)	Q244L	probably benign	Het
Usp33	A	G	3: 152,074,271 (GRCm39)	I372M	probably damaging	Het
Usp34	A	G	11: 23,301,629 (GRCm39)	E351G	probably damaging	Het
Utrn	A	G	10: 12,554,318 (GRCm39)		probably benign	Het
Vmn1r78	A	G	7: 11,886,508 (GRCm39)	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,632,223 (GRCm39)	M80L	probably benign	Het
Vps13a	G	T	19: 16,678,602 (GRCm39)	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Wnk2	C	T	13: 49,224,586 (GRCm39)	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,444,670 (GRCm39)	T66K	probably damaging	Het

Other mutations in Cep164

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Cep164	APN	9	45,686,554 (GRCm39)	missense	possibly damaging	0.46
IGL01571:Cep164	APN	9	45,705,636 (GRCm39)	missense	possibly damaging	0.82
IGL01985:Cep164	APN	9	45,690,904 (GRCm39)	missense	probably damaging	1.00
IGL01989:Cep164	APN	9	45,704,313 (GRCm39)	splice site	probably benign
IGL02130:Cep164	APN	9	45,691,090 (GRCm39)	missense	possibly damaging	0.82
IGL02598:Cep164	APN	9	45,682,002 (GRCm39)	missense	probably damaging	1.00
IGL03206:Cep164	APN	9	45,714,023 (GRCm39)	missense	probably benign	0.00
R0063:Cep164	UTSW	9	45,679,916 (GRCm39)	missense	possibly damaging	0.83
R0109:Cep164	UTSW	9	45,682,885 (GRCm39)	missense	probably damaging	1.00
R0528:Cep164	UTSW	9	45,688,234 (GRCm39)	unclassified	probably benign
R0532:Cep164	UTSW	9	45,721,124 (GRCm39)	nonsense	probably null
R1753:Cep164	UTSW	9	45,704,235 (GRCm39)	missense	probably damaging	0.99
R1824:Cep164	UTSW	9	45,690,226 (GRCm39)	missense	probably damaging	1.00
R1856:Cep164	UTSW	9	45,687,056 (GRCm39)	splice site	probably null
R1858:Cep164	UTSW	9	45,734,938 (GRCm39)	splice site	probably benign
R1900:Cep164	UTSW	9	45,721,123 (GRCm39)	missense	probably damaging	1.00
R1911:Cep164	UTSW	9	45,682,104 (GRCm39)	missense	probably benign	0.09
R2032:Cep164	UTSW	9	45,682,898 (GRCm39)	missense	probably damaging	1.00
R2133:Cep164	UTSW	9	45,714,481 (GRCm39)	missense	probably damaging	1.00
R2186:Cep164	UTSW	9	45,679,876 (GRCm39)	missense	probably damaging	1.00
R2511:Cep164	UTSW	9	45,686,547 (GRCm39)	missense	probably damaging	1.00
R4424:Cep164	UTSW	9	45,691,002 (GRCm39)	missense	possibly damaging	0.92
R5126:Cep164	UTSW	9	45,698,722 (GRCm39)	critical splice donor site	probably null
R5997:Cep164	UTSW	9	45,680,761 (GRCm39)	missense	possibly damaging	0.92
R6186:Cep164	UTSW	9	45,705,407 (GRCm39)	missense	probably damaging	0.98
R6357:Cep164	UTSW	9	45,682,182 (GRCm39)	missense	probably damaging	1.00
R6385:Cep164	UTSW	9	45,691,081 (GRCm39)	missense	probably damaging	0.99
R6632:Cep164	UTSW	9	45,691,088 (GRCm39)	missense	possibly damaging	0.66
R6957:Cep164	UTSW	9	45,683,578 (GRCm39)	critical splice donor site	probably null
R7310:Cep164	UTSW	9	45,686,664 (GRCm39)	missense	probably damaging	1.00
R7420:Cep164	UTSW	9	45,679,840 (GRCm39)	missense	probably benign	0.01
R7651:Cep164	UTSW	9	45,685,150 (GRCm39)	missense	probably benign	0.18
R7918:Cep164	UTSW	9	45,690,986 (GRCm39)	critical splice donor site	probably null
R7982:Cep164	UTSW	9	45,690,162 (GRCm39)	missense	probably benign	0.40
R8010:Cep164	UTSW	9	45,734,969 (GRCm39)	missense	unknown
R8391:Cep164	UTSW	9	45,718,491 (GRCm39)	missense	unknown
R8553:Cep164	UTSW	9	45,718,508 (GRCm39)	unclassified	probably benign
R8700:Cep164	UTSW	9	45,686,667 (GRCm39)	critical splice acceptor site	probably null
R9177:Cep164	UTSW	9	45,691,060 (GRCm39)	missense	probably damaging	1.00
R9348:Cep164	UTSW	9	45,717,708 (GRCm39)	missense	unknown
R9460:Cep164	UTSW	9	45,685,282 (GRCm39)	missense	probably benign
R9729:Cep164	UTSW	9	45,682,897 (GRCm39)	missense	probably damaging	1.00
X0024:Cep164	UTSW	9	45,687,161 (GRCm39)	critical splice donor site	probably null
X0028:Cep164	UTSW	9	45,682,265 (GRCm39)	missense	probably damaging	1.00
X0065:Cep164	UTSW	9	45,686,085 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GATCTTACACATGAAGTGTCCCCAACC -3'
(R):5'- TCTGTTCCTCACTGGAAGCCAAAC -3'

Sequencing Primer
(F):5'- GTACATGTCTGAACTATTACCACC -3'
(R):5'- TGGCCCCTTCATGCTGG -3'

Posted On

2014-03-14