Mutagenetix > Incidental Mutation

Incidental Mutation 'R1824:Cep164'

206683

Institutional Source

Beutler Lab

Gene Symbol

Cep164

Ensembl Gene

ENSMUSG00000043987

Gene Name

centrosomal protein 164

Synonyms

MMRRC Submission

039852-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45678244-45739984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45690226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1367 (V1367M)

Ref Sequence

ENSEMBL: ENSMUSP00000149815 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117194
AA Change: V666M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: V666M

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: V543M

SMART Domains

Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: V543M

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 damaging
Transcript: ENSMUST00000213154
AA Change: V1367M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216284
AA Change: V506M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000217554

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,708,086 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	A	3: 59,840,001 (GRCm39)	Y24*	probably null	Het
Abl1	T	A	2: 31,690,656 (GRCm39)	M706K	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Acd	A	G	8: 106,427,122 (GRCm39)	L96P	probably damaging	Het
Arsi	T	A	18: 61,045,369 (GRCm39)	W20R	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asic3	C	T	5: 24,618,749 (GRCm39)	Q14*	probably null	Het
Asxl3	T	A	18: 22,655,125 (GRCm39)	I1045N	probably damaging	Het
Atr	T	C	9: 95,818,474 (GRCm39)	I2149T	probably damaging	Het
Begain	A	G	12: 108,999,025 (GRCm39)		probably null	Het
Brca2	C	T	5: 150,460,387 (GRCm39)	T554I	possibly damaging	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
C1s2	C	T	6: 124,612,641 (GRCm39)	V11I	probably benign	Het
Cacna1i	T	C	15: 80,260,990 (GRCm39)	F1333L	possibly damaging	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cfap46	C	A	7: 139,219,518 (GRCm39)	A1316S	probably benign	Het
Cic	T	C	7: 24,987,691 (GRCm39)	S553P	probably damaging	Het
Cilk1	T	A	9: 78,065,144 (GRCm39)	D351E	probably benign	Het
Clcn2	C	T	16: 20,534,712 (GRCm39)	A12T	probably benign	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Coil	A	G	11: 88,872,923 (GRCm39)	N428S	possibly damaging	Het
Cpxm1	A	C	2: 130,237,617 (GRCm39)	V196G	probably damaging	Het
Cr2	A	G	1: 194,839,624 (GRCm39)	V601A	probably damaging	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Dclre1a	T	C	19: 56,535,150 (GRCm39)		probably null	Het
Dennd4a	G	C	9: 64,766,640 (GRCm39)		probably null	Het
Dlg5	T	C	14: 24,199,512 (GRCm39)	H1464R	probably benign	Het
Dmac2	T	G	7: 25,324,217 (GRCm39)	M225R	probably damaging	Het
Dnah8	T	C	17: 30,950,154 (GRCm39)	V1991A	possibly damaging	Het
Dscam	A	C	16: 96,626,781 (GRCm39)	V376G	probably benign	Het
Dync1li1	A	G	9: 114,538,252 (GRCm39)	D203G	probably benign	Het
Eva1c	A	G	16: 90,663,331 (GRCm39)	T22A	probably benign	Het
Fam110b	A	G	4: 5,799,029 (GRCm39)	D149G	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Fsip1	T	C	2: 118,063,389 (GRCm39)	D360G	probably damaging	Het
Galnt14	T	C	17: 74,016,934 (GRCm39)	T41A	probably benign	Het
Gdf3	T	A	6: 122,586,921 (GRCm39)	Q2L	probably benign	Het
Glrp1	A	G	1: 88,437,511 (GRCm39)		probably null	Het
Gm3336	C	G	8: 71,173,066 (GRCm39)		probably null	Het
Gm8674	C	T	13: 50,054,844 (GRCm39)		noncoding transcript	Het
Gnat1	A	G	9: 107,553,774 (GRCm39)	Y226H	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
H1f8	A	G	6: 115,925,719 (GRCm39)	Y1C	probably null	Het
Igfbpl1	C	A	4: 45,826,406 (GRCm39)	A130S	probably benign	Het
Impdh1	T	A	6: 29,205,087 (GRCm39)	D261V	probably benign	Het
Itgal	T	A	7: 126,913,232 (GRCm39)	S610T	probably damaging	Het
Jcad	A	G	18: 4,649,293 (GRCm39)	T55A	probably benign	Het
Jup	G	A	11: 100,264,963 (GRCm39)	R663*	probably null	Het
Kalrn	C	T	16: 34,114,585 (GRCm39)	G556D	probably damaging	Het
Krt81	T	C	15: 101,358,020 (GRCm39)	E411G	probably damaging	Het
Lcat	T	C	8: 106,666,520 (GRCm39)	E334G	probably damaging	Het
Lhcgr	T	C	17: 89,057,585 (GRCm39)	E302G	probably benign	Het
Magi1	A	G	6: 93,676,620 (GRCm39)	V913A	possibly damaging	Het
Mrpl19	A	T	6: 81,941,060 (GRCm39)		probably null	Het
Muc4	G	T	16: 32,576,307 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	G	A	2: 22,401,054 (GRCm39)	V600I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Ngef	A	G	1: 87,430,986 (GRCm39)		probably null	Het
Nisch	A	T	14: 30,898,389 (GRCm39)		probably benign	Het
Nlrp4c	G	A	7: 6,069,955 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,867,223 (GRCm39)	S154T	probably damaging	Het
Obscn	A	G	11: 58,885,658 (GRCm39)		probably benign	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4a74	G	T	2: 89,439,693 (GRCm39)	P251H	probably damaging	Het
Or6c219	T	C	10: 129,781,206 (GRCm39)	M242V	possibly damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Phf24	G	T	4: 42,934,661 (GRCm39)	C136F	probably damaging	Het
Phldb2	A	T	16: 45,646,374 (GRCm39)	V65E	probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prl8a8	A	T	13: 27,692,433 (GRCm39)	M186K	probably damaging	Het
Qars1	T	C	9: 108,391,809 (GRCm39)	V70A	probably damaging	Het
Rac1	C	T	5: 143,502,980 (GRCm39)	V14I	probably benign	Het
Rapgef5	T	A	12: 117,652,419 (GRCm39)		probably null	Het
Slc16a12	G	A	19: 34,648,278 (GRCm39)	T405M	possibly damaging	Het
Slc17a6	A	G	7: 51,311,294 (GRCm39)	Y336C	probably damaging	Het
Slc30a9	T	C	5: 67,505,395 (GRCm39)	L441P	probably damaging	Het
Slc45a2	T	C	15: 11,022,172 (GRCm39)	S305P	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Sp1	T	G	15: 102,339,438 (GRCm39)	S773A	possibly damaging	Het
Spen	C	A	4: 141,200,096 (GRCm39)	G2821C	probably damaging	Het
Tagap1	A	G	17: 7,223,425 (GRCm39)	S424P	probably benign	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tfec	C	T	6: 16,840,467 (GRCm39)		probably null	Het
Thsd7a	A	T	6: 12,409,041 (GRCm39)		probably null	Het
Tnfsf15	C	A	4: 63,651,588 (GRCm39)	G112V	probably benign	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tnxb	C	T	17: 34,911,307 (GRCm39)	R1537*	probably null	Het
Tpra1	A	G	6: 88,888,805 (GRCm39)	N329S	probably benign	Het
Ttc12	A	G	9: 49,368,184 (GRCm39)	F281S	probably damaging	Het
Unc79	A	G	12: 103,025,579 (GRCm39)	N322S	probably damaging	Het
Unk	G	T	11: 115,921,268 (GRCm39)		probably benign	Het
Usp4	G	T	9: 108,225,207 (GRCm39)	G31W	probably damaging	Het
Vcan	G	T	13: 89,853,331 (GRCm39)	A543D	possibly damaging	Het
Vil1	A	C	1: 74,457,606 (GRCm39)	I80L	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Vpreb1a	A	G	16: 16,686,935 (GRCm39)		probably null	Het
Zbtb6	C	T	2: 37,319,829 (GRCm39)	C33Y	probably damaging	Het
Zfp330	A	T	8: 83,492,644 (GRCm39)	C189*	probably null	Het
Zfp942	T	A	17: 22,147,522 (GRCm39)	H369L	probably damaging	Het
Zfp943	T	A	17: 22,211,361 (GRCm39)	I149K	probably benign	Het
Zfyve19	G	A	2: 119,042,016 (GRCm39)	V162M	probably benign	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
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'- CTACAGACATACAGGGGCCTAG -3'
(R):5'- ACAGCTCTGTTCCTCACTGG -3'

Sequencing Primer
(F):5'- CCTAGAGGCAGCAAAGGTCCTG -3'
(R):5'- AAGAGGGTGGCCTGGTC -3'

Posted On

2014-06-23