Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00784:Cep89'

277959

Institutional Source

Australian Phenomics Network (link to record)

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: 0.190) question?

Stock #

IGL00784

Quality Score

Status

Chromosome

Chromosomal Location

35397035-35438689 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35405707 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 132 (V132E)

Ref Sequence

ENSEMBL: ENSMUSP00000121393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079414] [ENSMUST00000141704] [ENSMUST00000206854]

Predicted Effect

probably benign
Transcript: ENSMUST00000079414
AA Change: V132E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: V132E

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

noncoding transcript
Transcript: ENSMUST00000125041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129064

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141704
AA Change: V132E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: V132E

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

probably benign
Transcript: ENSMUST00000206854

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 13,849,263		probably benign	Het
Arhgef33	A	T	17: 80,368,230	I403L	probably benign	Het
Cd4	A	G	6: 124,872,989	V121A	possibly damaging	Het
Dock10	A	G	1: 80,572,449		probably benign	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Hnrnpl	T	C	7: 28,820,642	F482L	probably benign	Het
Ift122	T	A	6: 115,905,902	H659Q	probably benign	Het
Jhy	T	C	9: 40,922,752	T291A	probably benign	Het
Nbeal2	T	C	9: 110,629,763		probably benign	Het
Ncaph2	A	G	15: 89,370,040	D367G	probably damaging	Het
Nmt2	T	A	2: 3,314,809	F279I	probably damaging	Het
Oas2	A	G	5: 120,738,363	F15S	probably damaging	Het
Pold2	T	C	11: 5,872,412	E419G	probably benign	Het
Scn7a	T	G	2: 66,692,564	E932A	probably damaging	Het
Stradb	T	C	1: 58,988,529	S73P	probably damaging	Het
Syce1l	A	G	8: 113,652,862	D120G	probably benign	Het
Unc80	G	A	1: 66,608,437	G1512E	probably benign	Het
Vps13b	G	T	15: 35,846,900	D2610Y	probably damaging	Het

Other mutations in Cep89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
K2124:Cep89	UTSW	7	35420972	splice site	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
R7347:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7348: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
V7732:Cep89	UTSW	7	35403098	missense	probably damaging	1.00

Posted On

2015-04-16