Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Cep164'

210283

Institutional Source

Beutler Lab

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

MMRRC Submission

039929-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45678244-45739984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45682104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1900 (M1900L)

Ref Sequence

ENSEMBL: ENSMUSP00000149815 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117194
AA Change: M1199L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: M1199L

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

noncoding transcript
Transcript: ENSMUST00000152629

Predicted Effect

probably benign
Transcript: ENSMUST00000213154
AA Change: M1900L

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214971

Predicted Effect

probably benign
Transcript: ENSMUST00000216284
AA Change: M1038L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,927,050 (GRCm39)		probably benign	Het
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,925,483 (GRCm39)	E82G	probably benign	Het
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Adam19	T	C	11: 46,012,281 (GRCm39)	V259A	probably damaging	Het
Adss1	T	C	12: 112,599,443 (GRCm39)	V140A	probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Ank1	T	C	8: 23,589,666 (GRCm39)	V589A	probably damaging	Het
Ano2	G	A	6: 125,990,654 (GRCm39)	D803N	probably benign	Het
Arid1b	A	G	17: 5,393,241 (GRCm39)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,550,138 (GRCm39)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Aspm	T	A	1: 139,405,832 (GRCm39)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,229,863 (GRCm39)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,079,113 (GRCm39)	G9*	probably null	Het
Btaf1	A	G	19: 36,964,030 (GRCm39)	Q867R	probably benign	Het
Calhm3	C	T	19: 47,143,908 (GRCm39)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,530,539 (GRCm39)	I401F	possibly damaging	Het
Cdcp3	T	C	7: 130,839,818 (GRCm39)	V580A	probably damaging	Het
Cecr2	T	A	6: 120,739,526 (GRCm39)		probably benign	Het
Cep104	G	A	4: 154,091,255 (GRCm39)	R925Q	possibly damaging	Het
Crybg1	A	G	10: 43,873,673 (GRCm39)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,399 (GRCm39)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,796,368 (GRCm39)	L798P	probably damaging	Het
Dmxl1	T	C	18: 50,011,230 (GRCm39)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,406,578 (GRCm39)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,601,029 (GRCm39)	M988K	probably damaging	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Endov	T	C	11: 119,393,177 (GRCm39)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,663,625 (GRCm39)	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,037,561 (GRCm39)	M188T	probably damaging	Het
Fhip1a	T	A	3: 85,568,525 (GRCm39)	D998V	probably benign	Het
Fhod3	A	T	18: 25,245,643 (GRCm39)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,742,646 (GRCm39)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Grk1	C	A	8: 13,457,923 (GRCm39)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,699,621 (GRCm39)	A269V	probably benign	Het
Krt33a	T	A	11: 99,903,175 (GRCm39)	Q289L	probably benign	Het
Krt76	T	A	15: 101,796,600 (GRCm39)	K403*	probably null	Het
Lcn4	T	C	2: 26,560,607 (GRCm39)		probably benign	Het
Mab21l1	T	C	3: 55,691,048 (GRCm39)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 25,123,025 (GRCm39)	D610E	probably benign	Het
Mastl	G	T	2: 23,022,692 (GRCm39)	S677*	probably null	Het
Mfap3	T	C	11: 57,420,562 (GRCm39)	F181S	probably damaging	Het
Mlkl	T	C	8: 112,038,732 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,876 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,350,041 (GRCm39)	F595L	probably benign	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nit2	G	A	16: 56,982,046 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,921,425 (GRCm39)	V298M	probably damaging	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Or4c111	A	G	2: 88,843,565 (GRCm39)	L281P	probably damaging	Het
Or52b1	T	A	7: 104,978,590 (GRCm39)	I270F	probably benign	Het
Or6c210	A	T	10: 129,495,981 (GRCm39)	D102V	probably benign	Het
Or7g12	T	C	9: 18,900,196 (GRCm39)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,243,662 (GRCm39)	R864L	probably benign	Het
Pcnt	G	A	10: 76,204,650 (GRCm39)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,634,174 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,326,548 (GRCm39)	I341V	probably damaging	Het
Pramel32	T	C	4: 88,548,309 (GRCm39)	Q32R	possibly damaging	Het
Prune2	T	A	19: 17,091,038 (GRCm39)	F281I	probably benign	Het
Psg19	T	G	7: 18,528,193 (GRCm39)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,765,658 (GRCm39)	S587A	probably benign	Het
Ptpro	T	C	6: 137,377,617 (GRCm39)		probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rasgrp4	T	C	7: 28,838,302 (GRCm39)	V92A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,398,867 (GRCm39)	A68V	probably damaging	Het
Robo2	A	T	16: 73,755,213 (GRCm39)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,187,237 (GRCm39)	V278I	probably benign	Het
Sidt1	A	G	16: 44,102,234 (GRCm39)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,599,246 (GRCm39)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,530,367 (GRCm39)	R690H	probably damaging	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,616 (GRCm39)	Y129*	probably null	Het
Srcap	T	C	7: 127,133,994 (GRCm39)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,140,383 (GRCm39)	S185A	probably damaging	Het
Sult6b1	G	A	17: 79,196,393 (GRCm39)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,937,979 (GRCm39)	N1023T	probably benign	Het
Tecta	C	T	9: 42,249,232 (GRCm39)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tex14	T	A	11: 87,385,861 (GRCm39)	D240E	probably damaging	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,910,104 (GRCm39)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,118,367 (GRCm39)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,592,374 (GRCm39)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,069,070 (GRCm39)	K304R	probably benign	Het
Ttc28	G	T	5: 111,428,616 (GRCm39)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 31,211,128 (GRCm39)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,461,001 (GRCm39)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,655,671 (GRCm39)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,024,236 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,137 (GRCm39)	M1079T	possibly damaging	Het
Znrf1	T	C	8: 112,348,233 (GRCm39)	*41Q	probably null	Het
Znrf1	T	C	8: 112,348,244 (GRCm39)	F183L	possibly 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
R1445:Cep164	UTSW	9	45,690,198 (GRCm39)	missense	possibly damaging	0.66
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
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'- CCAATGGACCAAAGATGATGGC -3'
(R):5'- CTTCAGCGAATCAGCAGTGAG -3'

Sequencing Primer
(F):5'- CCAAAGATGATGGCAAAGATAAGG -3'
(R):5'- TGAGCTAAACGGCGTGCTG -3'

Posted On

2014-06-30