Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02187:Cenatac'

283721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenatac

Ensembl Gene

ENSMUSG00000043923

Gene Name

centrosomal AT-AC splicing factor

Synonyms

Ccdc84, D630044F24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

IGL02187

Quality Score

Status

Chromosome

Chromosomal Location

44321456-44329390 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 44322084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000053286] [ENSMUST00000080300] [ENSMUST00000213813] [ENSMUST00000214494] [ENSMUST00000214702] [ENSMUST00000217163] [ENSMUST00000216076] [ENSMUST00000217084] [ENSMUST00000216867] [ENSMUST00000216572] [ENSMUST00000217270] [ENSMUST00000217351]

AlphaFold

Q4VA36

Predicted Effect

probably benign
Transcript: ENSMUST00000034623

SMART Domains

Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	209	2.7e-63	PFAM
Pfam:Sedlin_N	90	207	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053286

SMART Domains

Protein: ENSMUSP00000053216
Gene: ENSMUSG00000043923

Domain	Start	End	E-Value	Type
Pfam:CCDC84	6	323	2.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080300

SMART Domains

Protein: ENSMUSP00000079180
Gene: ENSMUSG00000009927

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S25	4	112	6.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213747

Predicted Effect

probably benign
Transcript: ENSMUST00000213813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214370

Predicted Effect

probably benign
Transcript: ENSMUST00000214494

Predicted Effect

probably benign
Transcript: ENSMUST00000214702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216134

Predicted Effect

probably benign
Transcript: ENSMUST00000217163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215072

Predicted Effect

probably benign
Transcript: ENSMUST00000216076

Predicted Effect

probably benign
Transcript: ENSMUST00000217084

Predicted Effect

probably benign
Transcript: ENSMUST00000216867

Predicted Effect

probably benign
Transcript: ENSMUST00000214748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215610

Predicted Effect

probably benign
Transcript: ENSMUST00000216572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217620

Predicted Effect

probably benign
Transcript: ENSMUST00000217270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217224

Predicted Effect

probably benign
Transcript: ENSMUST00000217351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217231

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,439,826 (GRCm39)	E922D	possibly damaging	Het
Asxl3	T	A	18: 22,658,035 (GRCm39)	M2015K	probably damaging	Het
C8a	C	A	4: 104,719,933 (GRCm39)	R15L	probably damaging	Het
Catsperg2	A	G	7: 29,420,791 (GRCm39)	V47A	probably benign	Het
Cdhr2	C	T	13: 54,881,523 (GRCm39)	T1081I	possibly damaging	Het
Cep85	T	A	4: 133,858,616 (GRCm39)	M752L	possibly damaging	Het
Cxcr3	T	A	X: 100,776,483 (GRCm39)	S60C	probably damaging	Het
Cyp24a1	T	A	2: 170,336,013 (GRCm39)	N208I	probably damaging	Het
Cyp2c38	A	G	19: 39,424,649 (GRCm39)	I223T	probably benign	Het
Dennd6a	A	G	14: 26,328,081 (GRCm39)	I35V	probably benign	Het
Emb	T	G	13: 117,405,507 (GRCm39)		probably benign	Het
Fbxo3	T	C	2: 103,858,295 (GRCm39)	Y30H	probably damaging	Het
Fnbp1l	G	A	3: 122,362,449 (GRCm39)	R120*	probably null	Het
Galnt2	T	C	8: 125,032,245 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,464,768 (GRCm39)		probably benign	Het
Gpr101	A	G	X: 56,546,841 (GRCm39)	F103S	probably damaging	Het
Gprasp1	T	A	X: 134,699,912 (GRCm39)	V35E	probably damaging	Het
Ift80	C	A	3: 68,892,789 (GRCm39)	W133L	probably damaging	Het
Impdh1	C	A	6: 29,207,086 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,275,938 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,269,657 (GRCm39)		probably null	Het
Klhl20	C	T	1: 160,937,280 (GRCm39)	V32I	probably benign	Het
Lrfn3	A	G	7: 30,055,389 (GRCm39)	S519P	probably damaging	Het
Mrpl51	A	G	6: 125,170,294 (GRCm39)	N100S	probably benign	Het
Mybpc3	T	C	2: 90,965,797 (GRCm39)	I1203T	probably benign	Het
Nbr1	A	G	11: 101,460,185 (GRCm39)	I394V	possibly damaging	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Or7g34	T	A	9: 19,478,393 (GRCm39)	T96S	probably benign	Het
Pan3	T	C	5: 147,463,398 (GRCm39)	I440T	probably benign	Het
Patz1	T	C	11: 3,241,134 (GRCm39)	L174P	probably damaging	Het
Paxx	A	G	2: 25,350,668 (GRCm39)	L62P	probably damaging	Het
Plekhh1	T	C	12: 79,119,592 (GRCm39)	S972P	probably damaging	Het
Ppp1r13b	G	T	12: 111,801,472 (GRCm39)	T404K	probably damaging	Het
Prkaa2	T	C	4: 104,904,363 (GRCm39)	N238S	probably benign	Het
Prpf6	T	C	2: 181,257,809 (GRCm39)	Y94H	probably damaging	Het
Rtn4	T	C	11: 29,658,291 (GRCm39)	I815T	possibly damaging	Het
Slc44a5	A	G	3: 153,968,554 (GRCm39)	T582A	probably benign	Het
Slitrk3	A	G	3: 72,957,605 (GRCm39)	L389S	probably damaging	Het
Srp54b	T	A	12: 55,299,560 (GRCm39)	M297K	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zmym4	T	A	4: 126,764,066 (GRCm39)	I1325L	probably damaging	Het
Zswim2	C	A	2: 83,753,982 (GRCm39)	R226L	probably damaging	Het

Other mutations in Cenatac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03400:Cenatac	APN	9	44,324,486 (GRCm39)	missense	probably benign
P0047:Cenatac	UTSW	9	44,324,506 (GRCm39)	splice site	probably benign
R1466:Cenatac	UTSW	9	44,324,977 (GRCm39)	splice site	probably benign
R1864:Cenatac	UTSW	9	44,329,018 (GRCm39)	missense	probably damaging	1.00
R4981:Cenatac	UTSW	9	44,329,245 (GRCm39)	missense	probably damaging	1.00
R5341:Cenatac	UTSW	9	44,328,406 (GRCm39)	critical splice donor site	probably null
R6024:Cenatac	UTSW	9	44,329,249 (GRCm39)	missense	possibly damaging	0.87
R6189:Cenatac	UTSW	9	44,321,618 (GRCm39)	missense	probably benign
R7250:Cenatac	UTSW	9	44,323,748 (GRCm39)	critical splice donor site	probably null
R7659:Cenatac	UTSW	9	44,324,790 (GRCm39)	missense	probably damaging	1.00
R7808:Cenatac	UTSW	9	44,324,215 (GRCm39)	missense	probably null	1.00
R7848:Cenatac	UTSW	9	44,324,939 (GRCm39)	missense	probably damaging	0.97
X0061:Cenatac	UTSW	9	44,329,057 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16