Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL00784

Quality Score

Status

Chromosome

Chromosomal Location

35096460-35138114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35105132 bp (GRCm39)

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]

AlphaFold

Q9CZX2

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: 14,069,525 (GRCm39)		probably benign	Het
Arhgef33	A	T	17: 80,675,659 (GRCm39)	I403L	probably benign	Het
Cd4	A	G	6: 124,849,952 (GRCm39)	V121A	possibly damaging	Het
Dock10	A	G	1: 80,550,166 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Hnrnpl	T	C	7: 28,520,067 (GRCm39)	F482L	probably benign	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Jhy	T	C	9: 40,834,048 (GRCm39)	T291A	probably benign	Het
Nbeal2	T	C	9: 110,458,831 (GRCm39)		probably benign	Het
Ncaph2	A	G	15: 89,254,243 (GRCm39)	D367G	probably damaging	Het
Nmt2	T	A	2: 3,315,846 (GRCm39)	F279I	probably damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Pold2	T	C	11: 5,822,412 (GRCm39)	E419G	probably benign	Het
Scn7a	T	G	2: 66,522,908 (GRCm39)	E932A	probably damaging	Het
Stradb	T	C	1: 59,027,688 (GRCm39)	S73P	probably damaging	Het
Syce1l	A	G	8: 114,379,494 (GRCm39)	D120G	probably benign	Het
Unc80	G	A	1: 66,647,596 (GRCm39)	G1512E	probably benign	Het
Vps13b	G	T	15: 35,847,046 (GRCm39)	D2610Y	probably damaging	Het

Other mutations in Cep89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Cep89	APN	7	35,120,325 (GRCm39)	missense	probably damaging	1.00
IGL02001:Cep89	APN	7	35,102,432 (GRCm39)	splice site	probably benign
IGL02141:Cep89	APN	7	35,120,349 (GRCm39)	missense	probably damaging	1.00
IGL02468:Cep89	APN	7	35,102,577 (GRCm39)	missense	probably benign	0.35
IGL02507:Cep89	APN	7	35,134,990 (GRCm39)	missense	probably damaging	1.00
IGL02612:Cep89	APN	7	35,124,080 (GRCm39)	critical splice acceptor site	probably null
IGL03324:Cep89	APN	7	35,124,078 (GRCm39)	intron	probably benign
IGL03396:Cep89	APN	7	35,128,603 (GRCm39)	missense	probably benign	0.05
3-1:Cep89	UTSW	7	35,124,147 (GRCm39)	missense	probably damaging	0.99
FR4304:Cep89	UTSW	7	35,109,066 (GRCm39)	utr 3 prime	probably benign
FR4976:Cep89	UTSW	7	35,109,066 (GRCm39)	utr 3 prime	probably benign
K2124:Cep89	UTSW	7	35,120,397 (GRCm39)	splice site	probably benign
R0127:Cep89	UTSW	7	35,127,687 (GRCm39)	missense	possibly damaging	0.92
R0416:Cep89	UTSW	7	35,115,827 (GRCm39)	unclassified	probably benign
R0609:Cep89	UTSW	7	35,134,955 (GRCm39)	missense	probably damaging	1.00
R1442:Cep89	UTSW	7	35,117,636 (GRCm39)	splice site	probably benign
R1468:Cep89	UTSW	7	35,120,388 (GRCm39)	splice site	probably null
R1468:Cep89	UTSW	7	35,120,388 (GRCm39)	splice site	probably null
R1661:Cep89	UTSW	7	35,117,105 (GRCm39)	missense	possibly damaging	0.66
R3981:Cep89	UTSW	7	35,137,808 (GRCm39)	missense	probably damaging	1.00
R4414:Cep89	UTSW	7	35,115,822 (GRCm39)	unclassified	probably benign
R4700:Cep89	UTSW	7	35,137,862 (GRCm39)	missense	probably benign	0.05
R4963:Cep89	UTSW	7	35,102,577 (GRCm39)	missense	probably benign	0.35
R4968:Cep89	UTSW	7	35,109,055 (GRCm39)	missense	possibly damaging	0.90
R4972:Cep89	UTSW	7	35,131,977 (GRCm39)	missense	probably damaging	1.00
R5578:Cep89	UTSW	7	35,109,067 (GRCm39)	unclassified	probably benign
R5767:Cep89	UTSW	7	35,117,070 (GRCm39)	missense	probably damaging	1.00
R5809:Cep89	UTSW	7	35,117,151 (GRCm39)	missense	probably damaging	0.97
R5890:Cep89	UTSW	7	35,128,587 (GRCm39)	missense	probably damaging	0.99
R6290:Cep89	UTSW	7	35,119,688 (GRCm39)	missense	probably damaging	1.00
R6361:Cep89	UTSW	7	35,097,472 (GRCm39)	missense	probably damaging	1.00
R6627:Cep89	UTSW	7	35,127,172 (GRCm39)	missense	possibly damaging	0.90
R7272:Cep89	UTSW	7	35,137,888 (GRCm39)	missense	probably benign	0.03
R7340:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7341:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7347:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7348:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7365:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7366:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7394:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7399:Cep89	UTSW	7	35,137,803 (GRCm39)	missense	probably damaging	1.00
R7422:Cep89	UTSW	7	35,127,672 (GRCm39)	missense	probably damaging	1.00
R7792:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7793:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R7819:Cep89	UTSW	7	35,131,968 (GRCm39)	missense	probably benign	0.07
R7860:Cep89	UTSW	7	35,113,570 (GRCm39)	missense	possibly damaging	0.63
R7899:Cep89	UTSW	7	35,129,353 (GRCm39)	missense	probably damaging	0.97
R8336:Cep89	UTSW	7	35,127,141 (GRCm39)	nonsense	probably null
R8669:Cep89	UTSW	7	35,128,602 (GRCm39)	missense	probably benign	0.04
R8974:Cep89	UTSW	7	35,097,493 (GRCm39)	missense	probably damaging	0.99
R9580:Cep89	UTSW	7	35,102,538 (GRCm39)	missense	possibly damaging	0.63
V7732:Cep89	UTSW	7	35,102,523 (GRCm39)	missense	probably damaging	1.00
Z1177:Cep89	UTSW	7	35,096,506 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16