Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Cep104'

214666

Institutional Source

Beutler Lab

Gene Symbol

Cep104

Ensembl Gene

ENSMUSG00000039523

Gene Name

centrosomal protein 104

Synonyms

BC046331

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

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

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154059651-154093189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154074296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 516 (L516P)

Ref Sequence

ENSEMBL: ENSMUSP00000040762 (fasta)

Gene Model

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

AlphaFold

Q80V31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047497
AA Change: L516P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: L516P

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

unknown
Transcript: ENSMUST00000183790
AA Change: L122P

Meta Mutation Damage Score

0.7550

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly 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
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
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'- AGCTGTTGTCACATGGTCAGC -3'
(R):5'- TTTGCAGCACAGAGAACCCTG -3'

Sequencing Primer
(F):5'- GTCACATGGTCAGCATCGTCAAG -3'
(R):5'- GCACAGAGAACCCTGCAAGG -3'

Posted On

2014-07-14