Mutagenetix > Incidental Mutation

Incidental Mutation 'R9580:Cep89'

722498

Institutional Source

Beutler Lab

Gene Symbol

Cep89

Ensembl Gene

ENSMUSG00000023072

Gene Name

centrosomal protein 89

Synonyms

Ccdc123, 2610507L03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9580 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35096460-35138114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35102538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 84 (I84F)

Ref Sequence

ENSEMBL: ENSMUSP00000078383 (fasta)

Gene Model

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

AlphaFold

Q9CZX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079414
AA Change: I84F

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: I84F

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
AA Change: I84F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: I84F

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

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

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	T	C	11: 62,156,145 (GRCm39)	M198T	probably damaging	Het
Agbl2	A	G	2: 90,636,248 (GRCm39)	T595A	probably benign	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Erp44	T	A	4: 48,218,187 (GRCm39)	R161*	probably null	Het
Fcsk	A	G	8: 111,616,813 (GRCm39)	W446R	probably damaging	Het
Gm12185	T	G	11: 48,799,192 (GRCm39)	S434R	possibly damaging	Het
Hmcn2	G	T	2: 31,294,875 (GRCm39)	A2555S	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-61	A	G	12: 115,322,993 (GRCm39)	S40P	possibly damaging	Het
Kif26b	C	T	1: 178,506,643 (GRCm39)	Q240*	probably null	Het
Mapkap1	C	T	2: 34,509,878 (GRCm39)	T456M	probably damaging	Het
Ncapg2	A	G	12: 116,424,228 (GRCm39)	N1137S	probably damaging	Het
Nectin4	C	G	1: 171,211,324 (GRCm39)	R283G	probably damaging	Het
Nos2	A	G	11: 78,828,457 (GRCm39)	I259V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c119	T	C	2: 88,987,465 (GRCm39)	N18S	probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Ppargc1a	A	T	5: 51,620,139 (GRCm39)	N733K	unknown	Het
Ptpn5	A	G	7: 46,732,622 (GRCm39)	Y345H	probably damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rbm47	A	C	5: 66,183,877 (GRCm39)	M242R	possibly damaging	Het
Slc12a5	T	G	2: 164,816,896 (GRCm39)	F140V	probably damaging	Het
Slc22a2	G	T	17: 12,803,177 (GRCm39)	V4L	probably benign	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas2r105	A	T	6: 131,663,699 (GRCm39)	I243K	probably damaging	Het
Tmem126b	G	T	7: 90,118,231 (GRCm39)	Y216*	probably null	Het
Usp25	C	T	16: 76,880,682 (GRCm39)	T681I	probably benign	Het
Vmn1r206	C	T	13: 22,804,890 (GRCm39)	A106T	probably damaging	Het
Vmn1r39	A	T	6: 66,781,915 (GRCm39)	N134K	probably damaging	Het
Vmn1r9	T	C	6: 57,048,812 (GRCm39)	S296P	probably benign	Het
Zfp97	T	A	17: 17,365,243 (GRCm39)	F247L	probably damaging	Het

Other mutations in Cep89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Cep89	APN	7	35,105,132 (GRCm39)	missense	possibly damaging	0.92
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
V7732:Cep89	UTSW	7	35,102,523 (GRCm39)	missense	probably damaging	1.00
Z1177:Cep89	UTSW	7	35,096,506 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGTCACTCAAGAGCTGCC -3'
(R):5'- CACAAGTGACAGAAACCTGGTG -3'

Sequencing Primer
(F):5'- TCACTCAAGAGCTGCCAGTGG -3'
(R):5'- GTGACAGAAACCTGGTGACTCC -3'

Posted On

2022-08-09