Mutagenetix > Incidental Mutation

Incidental Mutation 'R6627:Cep89'

524865

Institutional Source

Beutler Lab

Gene Symbol

Cep89

Ensembl Gene

ENSMUSG00000023072

Gene Name

centrosomal protein 89

Synonyms

Ccdc123, 2610507L03Rik

MMRRC Submission

044749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6627 (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 G at 35127172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 511 (D511G)

Ref Sequence

ENSEMBL: ENSMUSP00000121393 (fasta)

Gene Model

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

AlphaFold

Q9CZX2

Predicted Effect

probably benign
Transcript: ENSMUST00000079414
AA Change: D511G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: D511G

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: ENSMUST00000140418

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141704
AA Change: D511G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: D511G

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

probably benign
Transcript: ENSMUST00000150421

SMART Domains

Protein: ENSMUSP00000121422
Gene: ENSMUSG00000023072

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
coiled coil region	77	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206230

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.1%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	T	C	18: 12,395,221 (GRCm39)	N224S	probably benign	Het
Ccdc162	A	G	10: 41,539,181 (GRCm39)	S396P	probably damaging	Het
Cd9	A	G	6: 125,439,375 (GRCm39)	L119P	possibly damaging	Het
Cdk17	A	C	10: 93,068,274 (GRCm39)	T311P	probably damaging	Het
Coq3	T	C	4: 21,908,607 (GRCm39)	V286A	possibly damaging	Het
Cyp2j13	G	A	4: 95,947,343 (GRCm39)	T236I	probably damaging	Het
Ddx46	T	C	13: 55,800,748 (GRCm39)	V301A	probably benign	Het
Dnah10	A	T	5: 124,907,097 (GRCm39)	I4209F	probably damaging	Het
E2f5	G	A	3: 14,668,917 (GRCm39)	E270K	probably benign	Het
Elp1	A	T	4: 56,784,647 (GRCm39)		probably null	Het
Esp24	C	T	17: 39,350,952 (GRCm39)	Q51*	probably null	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fasn	G	T	11: 120,709,753 (GRCm39)	Q435K	probably benign	Het
Gpr17	T	C	18: 32,080,949 (GRCm39)	Y38C	probably damaging	Het
Lfng	T	C	5: 140,593,523 (GRCm39)	V118A	probably damaging	Het
Maco1	A	G	4: 134,563,654 (GRCm39)	V110A	probably damaging	Het
Muc5ac	T	C	7: 141,362,427 (GRCm39)		probably benign	Het
Myh1	T	G	11: 67,105,835 (GRCm39)	L1150R	probably damaging	Het
Plod3	T	G	5: 137,017,310 (GRCm39)	I111S	probably damaging	Het
Sh2d4a	T	A	8: 68,746,970 (GRCm39)	V66D	probably damaging	Het
Simc1	T	G	13: 54,694,887 (GRCm39)	L323V	probably damaging	Het
Thnsl2	A	G	6: 71,111,199 (GRCm39)	I223T	possibly damaging	Het
Tmem203	T	C	2: 25,145,785 (GRCm39)		probably null	Het
Tmppe	A	G	9: 114,234,553 (GRCm39)	D284G	probably damaging	Het
Ube2s	C	T	7: 4,813,581 (GRCm39)	R61H	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGTCTTCTGTGCCAAGTC -3'
(R):5'- GTATCATGGGTGCAGTGTACTC -3'

Sequencing Primer
(F):5'- AGTCTTCTGTGCCAAGTCTTTTTC -3'
(R):5'- GGGTGCAGTGTACTCATGTAAAATC -3'

Posted On

2018-06-22