Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Cep104'

253769

Institutional Source

Beutler Lab

Gene Symbol

Cep104

Ensembl Gene

ENSMUSG00000039523

Gene Name

centrosomal protein 104

Synonyms

BC046331

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154059651-154093189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154073603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 52 (M52K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047497]

AlphaFold

Q80V31

Predicted Effect

probably benign
Transcript: ENSMUST00000047497
AA Change: M446K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: M446K

Domain	Start	End	E-Value	Type
coiled coil region	222	249	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC
low complexity region	307	320	N/A	INTRINSIC
SCOP:d1gw5b_	523	646	3e-5	SMART
coiled coil region	688	730	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155414

Predicted Effect

probably damaging
Transcript: ENSMUST00000183790
AA Change: M52K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	probably benign	Het

Other mutations in Cep104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02755:Cep104	APN	4	154,081,416 (GRCm39)	missense	possibly damaging	0.93
IGL02884:Cep104	APN	4	154,074,319 (GRCm39)	missense	probably damaging	0.96
IGL02928:Cep104	APN	4	154,065,716 (GRCm39)	missense	probably benign	0.18
IGL03119:Cep104	APN	4	154,066,181 (GRCm39)	missense	probably damaging	1.00
R0409:Cep104	UTSW	4	154,067,510 (GRCm39)	splice site	probably benign
R0505:Cep104	UTSW	4	154,080,761 (GRCm39)	missense	probably benign	0.00
R0600:Cep104	UTSW	4	154,091,249 (GRCm39)	missense	possibly damaging	0.58
R1208:Cep104	UTSW	4	154,069,836 (GRCm39)	missense	probably damaging	1.00
R1208:Cep104	UTSW	4	154,069,836 (GRCm39)	missense	probably damaging	1.00
R1221:Cep104	UTSW	4	154,072,902 (GRCm39)	missense	probably benign	0.00
R1338:Cep104	UTSW	4	154,078,965 (GRCm39)	missense	probably benign	0.01
R1528:Cep104	UTSW	4	154,078,965 (GRCm39)	missense	probably benign	0.01
R1648:Cep104	UTSW	4	154,063,553 (GRCm39)	critical splice donor site	probably null
R1831:Cep104	UTSW	4	154,087,003 (GRCm39)	missense	probably benign	0.30
R1832:Cep104	UTSW	4	154,087,003 (GRCm39)	missense	probably benign	0.30
R1911:Cep104	UTSW	4	154,091,255 (GRCm39)	missense	possibly damaging	0.74
R1914:Cep104	UTSW	4	154,074,296 (GRCm39)	missense	possibly damaging	0.79
R2910:Cep104	UTSW	4	154,079,884 (GRCm39)	splice site	probably null
R2911:Cep104	UTSW	4	154,079,884 (GRCm39)	splice site	probably null
R3751:Cep104	UTSW	4	154,066,213 (GRCm39)	missense	probably damaging	1.00
R3828:Cep104	UTSW	4	154,069,400 (GRCm39)	missense	probably damaging	1.00
R3829:Cep104	UTSW	4	154,069,400 (GRCm39)	missense	probably damaging	1.00
R3830:Cep104	UTSW	4	154,069,400 (GRCm39)	missense	probably damaging	1.00
R4474:Cep104	UTSW	4	154,073,693 (GRCm39)	missense	possibly damaging	0.47
R4731:Cep104	UTSW	4	154,072,883 (GRCm39)	missense	probably damaging	1.00
R4732:Cep104	UTSW	4	154,072,883 (GRCm39)	missense	probably damaging	1.00
R4733:Cep104	UTSW	4	154,072,883 (GRCm39)	missense	probably damaging	1.00
R5306:Cep104	UTSW	4	154,090,699 (GRCm39)	missense	probably benign	0.02
R5449:Cep104	UTSW	4	154,069,762 (GRCm39)	splice site	probably null
R5567:Cep104	UTSW	4	154,086,734 (GRCm39)	missense	possibly damaging	0.64
R5761:Cep104	UTSW	4	154,065,681 (GRCm39)	missense	possibly damaging	0.63
R5980:Cep104	UTSW	4	154,072,930 (GRCm39)	missense	probably benign	0.00
R7003:Cep104	UTSW	4	154,078,018 (GRCm39)	missense	probably benign	0.00
R7179:Cep104	UTSW	4	154,077,324 (GRCm39)	missense	probably damaging	0.99
R7376:Cep104	UTSW	4	154,067,509 (GRCm39)	splice site	probably null
R8278:Cep104	UTSW	4	154,068,122 (GRCm39)	missense	possibly damaging	0.92
R8877:Cep104	UTSW	4	154,077,985 (GRCm39)	missense	probably damaging	0.98
R9035:Cep104	UTSW	4	154,063,462 (GRCm39)	missense	probably benign	0.39
R9060:Cep104	UTSW	4	154,074,281 (GRCm39)	missense	probably damaging	0.98
R9165:Cep104	UTSW	4	154,078,971 (GRCm39)	critical splice donor site	probably null
X0026:Cep104	UTSW	4	154,071,342 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTTGCAGGAGTCAGTGTC -3'
(R):5'- GTTATATCAGTGACCTGGGGAC -3'

Sequencing Primer
(F):5'- TCCACAGTGTGCAGGTTCTCAG -3'
(R):5'- CAGCAGGTTGAGGGACTTACTG -3'

Posted On

2014-12-04