Mutagenetix > Incidental Mutations

Incidental Mutation 'K2124:Cep89'

7918

Institutional Source

Beutler Lab

Gene Symbol

Cep89

Ensembl Gene

ENSMUSG00000023072

Gene Name

centrosomal protein 89

Synonyms

Ccdc123, 2610507L03Rik

Accession Numbers

Genbank: NM_028120; MGI: 1919390

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

K2124 of strain 613

Quality Score

Status

Validated

Chromosome

Chromosomal Location

35397035-35438689 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 35420972 bp

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079414] [ENSMUST00000141704] [ENSMUST00000206230]

Predicted Effect

probably benign
Transcript: ENSMUST00000079414

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072

Domain	Start	End	E-Value	Type
low complexity region	27	62	N/A	INTRINSIC
low complexity region	181	190	N/A	INTRINSIC
coiled coil region	252	291	N/A	INTRINSIC
coiled coil region	372	598	N/A	INTRINSIC
coiled coil region	670	732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141704

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072

Domain	Start	End	E-Value	Type
low complexity region	27	62	N/A	INTRINSIC
low complexity region	181	190	N/A	INTRINSIC
coiled coil region	252	291	N/A	INTRINSIC
coiled coil region	372	598	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155137

Predicted Effect

probably benign
Transcript: ENSMUST00000206230

Coding Region Coverage

1x: 88.1%
3x: 81.9%

Validation Efficiency

96% (194/202)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Gm14085	A	T	2: 122,525,153	T609S	probably benign	Homo
Itih3	T	C	14: 30,912,687	N121S	probably benign	Het
Mmrn1	A	T	6: 60,976,033	N433Y	possibly damaging	Het
Stra6l	T	A	4: 45,870,770		probably benign	Homo
Tgs1	C	T	4: 3,595,547	S572L	probably benign	Het

Other mutations in Cep89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Cep89	APN	7	35405707	missense	possibly damaging	0.92
IGL01546:Cep89	APN	7	35420900	missense	probably damaging	1.00
IGL02001:Cep89	APN	7	35403007	splice site	probably benign
IGL02141:Cep89	APN	7	35420924	missense	probably damaging	1.00
IGL02468:Cep89	APN	7	35403152	missense	probably benign	0.35
IGL02507:Cep89	APN	7	35435565	missense	probably damaging	1.00
IGL02612:Cep89	APN	7	35424655	critical splice acceptor site	probably null
IGL03324:Cep89	APN	7	35424653	intron	probably benign
IGL03396:Cep89	APN	7	35429178	missense	probably benign	0.05
3-1:Cep89	UTSW	7	35424722	missense	probably damaging	0.99
FR4304:Cep89	UTSW	7	35409641	utr 3 prime	probably benign
FR4976:Cep89	UTSW	7	35409641	utr 3 prime	probably benign
R0127:Cep89	UTSW	7	35428262	missense	possibly damaging	0.92
R0416:Cep89	UTSW	7	35416402	unclassified	probably benign
R0609:Cep89	UTSW	7	35435530	missense	probably damaging	1.00
R1442:Cep89	UTSW	7	35418211	splice site	probably benign
R1468:Cep89	UTSW	7	35420963	splice site	probably null
R1468:Cep89	UTSW	7	35420963	splice site	probably null
R1661:Cep89	UTSW	7	35417680	missense	possibly damaging	0.66
R3981:Cep89	UTSW	7	35438383	missense	probably damaging	1.00
R4414:Cep89	UTSW	7	35416397	unclassified	probably benign
R4700:Cep89	UTSW	7	35438437	missense	probably benign	0.05
R4963:Cep89	UTSW	7	35403152	missense	probably benign	0.35
R4968:Cep89	UTSW	7	35409630	missense	possibly damaging	0.90
R4972:Cep89	UTSW	7	35432552	missense	probably damaging	1.00
R5578:Cep89	UTSW	7	35409642	unclassified	probably benign
R5767:Cep89	UTSW	7	35417645	missense	probably damaging	1.00
R5809:Cep89	UTSW	7	35417726	missense	probably damaging	0.97
R5890:Cep89	UTSW	7	35429162	missense	probably damaging	0.99
R6290:Cep89	UTSW	7	35420263	missense	probably damaging	1.00
R6361:Cep89	UTSW	7	35398047	missense	probably damaging	1.00
R6627:Cep89	UTSW	7	35427747	missense	possibly damaging	0.90
R7272:Cep89	UTSW	7	35438463	missense	probably benign	0.03
R7340:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7341:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7347:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7348:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7365:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7366:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7399:Cep89	UTSW	7	35438378	missense	probably damaging	1.00
R7422:Cep89	UTSW	7	35428247	missense	probably damaging	1.00
R7819:Cep89	UTSW	7	35432543	missense	probably benign	0.07
V7732:Cep89	UTSW	7	35403098	missense	probably damaging	1.00

Posted On

2012-11-15