Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Cep104'

207309

Institutional Source

Beutler Lab

Gene Symbol

Cep104

Ensembl Gene

ENSMUSG00000039523

Gene Name

centrosomal protein 104

Synonyms

BC046331

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

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

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154059651-154093189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154087003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 842 (V842E)

Ref Sequence

ENSEMBL: ENSMUSP00000040762 (fasta)

Gene Model

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

AlphaFold

Q80V31

Predicted Effect

probably benign
Transcript: ENSMUST00000047497
AA Change: V842E

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: V842E

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

unknown
Transcript: ENSMUST00000183790
AA Change: V448E

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
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 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	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
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
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'- TCCTGGGCACATCAAAACTAAG -3'
(R):5'- CCACCATGGGGAACATTCTG -3'

Sequencing Primer
(F):5'- CTAAGGAGTGCAGCCGTG -3'
(R):5'- TGGCTAACAGGCTACAGACTCTG -3'

Posted On

2014-06-23