Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Cep104'

166340

Institutional Source

Beutler Lab

Gene Symbol

Cep104

Ensembl Gene

ENSMUSG00000039523

Gene Name

centrosomal protein 104

Synonyms

BC046331

MMRRC Submission

039568-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R1528 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

154059651-154093189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 154078965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 323 (V323G)

Gene Model

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

AlphaFold

Q80V31

Predicted Effect

probably benign
Transcript: ENSMUST00000047497
AA Change: V717G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: V717G

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 benign
Transcript: ENSMUST00000183790
AA Change: V323G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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 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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,530 (GRCm39)	Q262L	possibly damaging	Het
Abcg4	T	C	9: 44,186,020 (GRCm39)	Y617C	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ano1	T	G	7: 144,149,303 (GRCm39)	S853R	probably damaging	Het
Ap4e1	T	A	2: 126,853,743 (GRCm39)	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,439,693 (GRCm39)	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,940,171 (GRCm39)	D982V	probably damaging	Het
Atxn2	T	C	5: 121,951,593 (GRCm39)	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,847,755 (GRCm39)	C136R	possibly damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Cacna1i	A	G	15: 80,275,975 (GRCm39)		probably null	Het
Ccdc122	T	A	14: 77,305,379 (GRCm39)	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,522,078 (GRCm39)	D90G	probably damaging	Het
Chmp6	A	G	11: 119,807,541 (GRCm39)	D128G	probably benign	Het
Clec18a	A	T	8: 111,805,498 (GRCm39)	M201K	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,952,419 (GRCm39)	M493K	probably damaging	Het
Crygd	A	C	1: 65,102,216 (GRCm39)		probably null	Het
Dennd1c	T	C	17: 57,373,935 (GRCm39)	T543A	probably benign	Het
Erbb4	A	T	1: 68,117,741 (GRCm39)	C891*	probably null	Het
Ercc5	A	T	1: 44,217,401 (GRCm39)	K915*	probably null	Het
Ercc6	A	T	14: 32,240,979 (GRCm39)	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,863,384 (GRCm39)	P6T	unknown	Het
Exoc1	A	G	5: 76,697,411 (GRCm39)	K396R	possibly damaging	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Fcsk	A	T	8: 111,609,873 (GRCm39)	L1047Q	probably damaging	Het
Fgf7	T	A	2: 125,877,738 (GRCm39)	M35K	probably damaging	Het
Fras1	G	A	5: 96,784,678 (GRCm39)	G887D	probably damaging	Het
Gbp4	A	T	5: 105,269,658 (GRCm39)		probably null	Het
Homez	A	T	14: 55,095,162 (GRCm39)	M182K	probably benign	Het
Hrnr	G	A	3: 93,230,101 (GRCm39)	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,589,072 (GRCm39)	S83A	probably benign	Het
Ildr2	A	G	1: 166,098,064 (GRCm39)		probably null	Het
Klhdc1	A	T	12: 69,309,972 (GRCm39)	R291S	probably benign	Het
Krt77	T	A	15: 101,769,523 (GRCm39)	I413F	probably damaging	Het
Lipn	A	G	19: 34,046,070 (GRCm39)	I14M	probably damaging	Het
Macf1	T	G	4: 123,369,807 (GRCm39)	R86S	probably benign	Het
Mroh8	C	A	2: 157,071,975 (GRCm39)	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,470,033 (GRCm39)	D1255E	possibly damaging	Het
Nckap5	C	T	1: 125,952,659 (GRCm39)	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,081,723 (GRCm39)	K668E	probably damaging	Het
Nod2	T	C	8: 89,391,217 (GRCm39)	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,450,016 (GRCm39)	M97V	possibly damaging	Het
Nsd3	G	A	8: 26,188,795 (GRCm39)	V43M	probably damaging	Het
Nubp2	A	G	17: 25,103,388 (GRCm39)	V163A	probably damaging	Het
Oas1e	A	T	5: 120,926,054 (GRCm39)	F338Y	probably damaging	Het
Oat	C	A	7: 132,165,998 (GRCm39)	G196C	probably damaging	Het
Or4a69	C	T	2: 89,312,897 (GRCm39)	G194D	probably damaging	Het
Or52e8b	A	T	7: 104,673,971 (GRCm39)	L72Q	probably damaging	Het
Or7a41	T	C	10: 78,871,398 (GRCm39)	L256P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Phf8-ps	A	G	17: 33,286,215 (GRCm39)	S196P	probably damaging	Het
Pja2	C	A	17: 64,616,217 (GRCm39)	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,468,427 (GRCm39)	S332P	probably damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Prdm10	A	G	9: 31,268,582 (GRCm39)	T844A	probably damaging	Het
Ripk1	C	T	13: 34,212,130 (GRCm39)	P480L	probably benign	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,801 (GRCm39)	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,126,110 (GRCm39)	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,349,681 (GRCm39)	L23S	probably benign	Het
Setd5	T	A	6: 113,098,699 (GRCm39)	F758L	probably damaging	Het
Smlr1	C	A	10: 25,411,976 (GRCm39)	V4L	possibly damaging	Het
Snx1	T	C	9: 66,016,825 (GRCm39)	D34G	probably damaging	Het
Spaca5	A	T	X: 20,942,892 (GRCm39)	T92S	probably benign	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Swi5	C	A	2: 32,170,716 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,012,874 (GRCm39)	D2689E	probably benign	Het
Tcof1	T	A	18: 60,948,071 (GRCm39)	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,872,069 (GRCm39)	T49I	probably damaging	Het
Tmx3	T	A	18: 90,555,210 (GRCm39)	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,006,506 (GRCm39)	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,536,989 (GRCm39)	H248Q	probably benign	Het
Ttn	T	C	2: 76,567,412 (GRCm39)	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 139,613,696 (GRCm39)		probably benign	Het
Vwf	A	C	6: 125,585,254 (GRCm39)	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,407,828 (GRCm39)	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,897,292 (GRCm39)	D219G	probably benign	Het
Zc3h6	C	T	2: 128,858,989 (GRCm39)	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,784,050 (GRCm39)		probably null	Het
Zfp369	T	A	13: 65,439,979 (GRCm39)	I221N	probably damaging	Het
Zfp655	A	T	5: 145,181,411 (GRCm39)	N423I	probably damaging	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
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
R2516:Cep104	UTSW	4	154,073,603 (GRCm39)	missense	probably damaging	1.00
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'- TTGTCTCCCAGTGTCTGAAGCTACC -3'
(R):5'- CGGCAGAGCAGGCTAGTAATTGAC -3'

Sequencing Primer
(F):5'- ACCCCAAAACCTCTTTTAATGTGG -3'
(R):5'- CTAGTAATTGACATGGGACACCCAG -3'

Posted On

2014-04-13