Mutagenetix > Incidental Mutation

Incidental Mutation 'R1900:Cep164'

214204

Institutional Source

Beutler Lab

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

MMRRC Submission

039920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45678244-45739984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45721123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 93 (R93L)

Ref Sequence

ENSEMBL: ENSMUSP00000114053 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117194
AA Change: R93L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: R93L

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: ENSMUST00000213154
AA Change: R93L

Meta Mutation Damage Score

0.4101

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	C	2: 32,630,559 (GRCm39)		probably benign	Het
Ago4	T	C	4: 126,410,729 (GRCm39)	I221V	probably benign	Het
Ankfy1	C	T	11: 72,645,233 (GRCm39)	Q771*	probably null	Het
Ankrd50	T	C	3: 38,509,536 (GRCm39)	T944A	probably damaging	Het
Armh4	T	C	14: 50,008,040 (GRCm39)	T478A	probably damaging	Het
AU040320	A	C	4: 126,747,073 (GRCm39)		probably null	Het
Axdnd1	A	G	1: 156,208,344 (GRCm39)		probably null	Het
Cdadc1	A	T	14: 59,823,981 (GRCm39)	D170E	probably damaging	Het
Cep250	T	C	2: 155,827,294 (GRCm39)		probably null	Het
Cfdp1	G	A	8: 112,495,361 (GRCm39)	R286*	probably null	Het
Chrdl2	A	G	7: 99,682,871 (GRCm39)	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,198,880 (GRCm39)	S623T	probably benign	Het
Col6a5	C	T	9: 105,808,412 (GRCm39)	G879S	unknown	Het
Cyp2c38	T	A	19: 39,426,756 (GRCm39)	I182F	probably benign	Het
Dennd4a	T	C	9: 64,804,618 (GRCm39)	V1319A	probably damaging	Het
Dysf	T	G	6: 84,016,549 (GRCm39)	V70G	probably damaging	Het
Edn3	A	G	2: 174,603,398 (GRCm39)	T49A	possibly damaging	Het
Elac1	C	G	18: 73,872,316 (GRCm39)	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,798,268 (GRCm39)	D445G	probably benign	Het
Fgf11	G	T	11: 69,692,279 (GRCm39)	T58K	probably benign	Het
Fstl5	T	A	3: 76,615,467 (GRCm39)	W843R	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gal3st2c	G	A	1: 93,936,766 (GRCm39)	R237H	probably damaging	Het
Galnt15	G	T	14: 31,771,822 (GRCm39)	R289L	probably damaging	Het
Garin4	T	A	1: 190,896,631 (GRCm39)	K4M	possibly damaging	Het
Gdf5	T	A	2: 155,784,001 (GRCm39)	D317V	probably damaging	Het
Gm7808	A	G	9: 19,839,410 (GRCm39)		probably benign	Het
Hcn3	T	C	3: 89,055,570 (GRCm39)	E559G	probably benign	Het
Hdlbp	A	T	1: 93,349,959 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,701,675 (GRCm39)	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,411,268 (GRCm39)	S269P	probably damaging	Het
Il17ra	A	T	6: 120,454,355 (GRCm39)		probably null	Het
Kif2a	T	C	13: 107,113,503 (GRCm39)	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,504,963 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,766,800 (GRCm39)	C169F	probably damaging	Het
Lap3	T	C	5: 45,669,252 (GRCm39)	F467S	probably damaging	Het
Lpar6	A	T	14: 73,476,579 (GRCm39)	Y180F	probably benign	Het
Lrig3	T	C	10: 125,838,262 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,877,432 (GRCm39)	S378T	probably damaging	Het
Ltf	T	C	9: 110,851,913 (GRCm39)	F117L	possibly damaging	Het
Med16	T	C	10: 79,734,765 (GRCm39)	E533G	probably damaging	Het
Meltf	T	C	16: 31,700,787 (GRCm39)		probably null	Het
Mphosph10	C	T	7: 64,030,776 (GRCm39)	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,317,585 (GRCm39)	T812A	probably benign	Het
Mto1	T	C	9: 78,368,799 (GRCm39)		probably benign	Het
Ndst1	A	T	18: 60,845,793 (GRCm39)		probably null	Het
Ndst4	T	A	3: 125,491,544 (GRCm39)		probably null	Het
Nhlh1	A	T	1: 171,881,608 (GRCm39)	I86N	probably damaging	Het
Nme9	A	C	9: 99,341,827 (GRCm39)	D59A	probably damaging	Het
Nox4	A	T	7: 87,010,004 (GRCm39)	R402*	probably null	Het
Npr1	T	C	3: 90,369,495 (GRCm39)	D410G	probably damaging	Het
Nrip1	T	A	16: 76,088,927 (GRCm39)	T877S	probably benign	Het
Nsd2	A	G	5: 34,003,513 (GRCm39)	N221S	probably benign	Het
Ophn1	A	T	X: 97,769,665 (GRCm39)	Y181*	probably null	Het
Or13a28	A	T	7: 140,218,505 (GRCm39)	D297V	probably damaging	Het
Or1e17	C	A	11: 73,831,486 (GRCm39)	P138Q	possibly damaging	Het
Or4c123	T	C	2: 89,127,014 (GRCm39)	N200S	probably damaging	Het
Or51ac3	A	T	7: 103,213,814 (GRCm39)	L224*	probably null	Het
Or51f5	A	T	7: 102,424,538 (GRCm39)	H269L	probably benign	Het
Or5b109	T	A	19: 13,212,277 (GRCm39)	I221K	possibly damaging	Het
Or8c10	A	T	9: 38,279,360 (GRCm39)	I173L	probably benign	Het
Parp1	A	G	1: 180,424,904 (GRCm39)	K819R	probably damaging	Het
Parp9	T	C	16: 35,792,591 (GRCm39)	S829P	probably benign	Het
Pde6c	T	A	19: 38,150,388 (GRCm39)	F511Y	probably damaging	Het
Per3	G	T	4: 151,125,883 (GRCm39)	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,624,151 (GRCm39)	R145W	probably damaging	Het
Piezo1	T	C	8: 123,209,384 (GRCm39)		probably benign	Het
Plb1	T	C	5: 32,444,191 (GRCm39)	I312T	probably benign	Het
Plin3	T	A	17: 56,586,824 (GRCm39)	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,634,772 (GRCm39)	I636N	probably damaging	Het
Pramel51	A	C	12: 88,144,030 (GRCm39)	L261R	probably benign	Het
Prb1b	A	T	6: 132,291,661 (GRCm39)	L11Q	unknown	Het
Prex2	G	T	1: 11,232,590 (GRCm39)	E886*	probably null	Het
Proca1	A	T	11: 78,095,847 (GRCm39)	I73F	probably damaging	Het
Ptpn6	A	G	6: 124,705,896 (GRCm39)	S83P	probably benign	Het
Rtp1	G	T	16: 23,248,049 (GRCm39)	V41L	probably benign	Het
Scn4a	A	G	11: 106,218,359 (GRCm39)	I1035T	probably damaging	Het
Sell	A	T	1: 163,892,907 (GRCm39)	Y41F	probably damaging	Het
Serping1	C	T	2: 84,601,793 (GRCm39)	V226M	probably damaging	Het
Sf3b1	A	T	1: 55,037,347 (GRCm39)	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,524,524 (GRCm39)	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,560,880 (GRCm39)	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,749,157 (GRCm39)	D53E	probably benign	Het
Slc35b3	A	G	13: 39,144,587 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,815 (GRCm39)	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,187,789 (GRCm39)	S517P	probably benign	Het
Smo	A	G	6: 29,736,055 (GRCm39)	R16G	unknown	Het
Srebf1	A	G	11: 60,094,312 (GRCm39)	L601P	probably damaging	Het
Sspo	A	G	6: 48,436,284 (GRCm39)	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,655,373 (GRCm39)	N159K	probably damaging	Het
Thsd1	G	A	8: 22,742,334 (GRCm39)		probably benign	Het
Tmeff1	T	C	4: 48,658,938 (GRCm39)		probably benign	Het
Tmem140	G	A	6: 34,849,838 (GRCm39)	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,070 (GRCm39)	C220R	probably benign	Het
Tox2	A	T	2: 163,118,087 (GRCm39)	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,796,984 (GRCm39)	E183K	probably damaging	Het
Unc50	A	G	1: 37,477,880 (GRCm39)	Y254C	probably damaging	Het
Unk	T	G	11: 115,949,907 (GRCm39)	D691E	probably benign	Het
Uox	T	A	3: 146,316,134 (GRCm39)	V23D	probably damaging	Het
Vps13d	A	G	4: 144,853,176 (GRCm39)	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,311,125 (GRCm39)	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,427,236 (GRCm39)	Q288L	probably benign	Het
Zzef1	T	A	11: 72,739,540 (GRCm39)	D662E	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
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
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'- CTGTCAAGAATTCATTGTTACCCC -3'
(R):5'- GCAGCTTTGAATGCCTGTG -3'

Sequencing Primer
(F):5'- GGGTCCCCATGCCTCTTG -3'
(R):5'- CTGAGGACAGCTACAGTGTACTTAC -3'

Posted On

2014-07-14