Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Cep104'

695977

Institutional Source

Beutler Lab

Gene Symbol

Cep104

Ensembl Gene

ENSMUSG00000039523

Gene Name

centrosomal protein 104

Synonyms

BC046331

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

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

Stock #

R9165 (G1)

Quality Score

190.009

Status

Not validated

Chromosome

Chromosomal Location

154059651-154093189 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 154078971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040762 (fasta)

Gene Model

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

AlphaFold

Q80V31

Predicted Effect

probably null
Transcript: ENSMUST00000047497

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523

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

probably null
Transcript: ENSMUST00000047497

SMART Domains

Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523

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

probably benign
Transcript: ENSMUST00000183790

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	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
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
X0026:Cep104	UTSW	4	154,071,342 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAATTGTCTCCCAGTGTCTGAAG -3'
(R):5'- GCAGAGCAGGCTAGTAATTGAC -3'

Sequencing Primer
(F):5'- CAGTGTCTGAAGCTACCCC -3'
(R):5'- CAGGCTAGTAATTGACATGGGAC -3'

Posted On

2022-02-07