Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Cep89'

90347

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: 0.167) question?

Stock #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

35096460-35138114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35120325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 369 (L369P)

Ref Sequence

ENSEMBL: ENSMUSP00000078383 (fasta)

Gene Model

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

AlphaFold

Q9CZX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079414
AA Change: L369P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: L369P

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 damaging
Transcript: ENSMUST00000141704
AA Change: L369P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: L369P

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 damaging
Transcript: ENSMUST00000206230
AA Change: L98P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

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
Amdhd2	C	A	17: 24,382,574 (GRCm39)	R22L	probably benign	Het
Arg2	T	C	12: 79,196,633 (GRCm39)		probably benign	Het
Catip	T	C	1: 74,401,954 (GRCm39)	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,255,385 (GRCm39)	L123R	probably damaging	Het
Dolpp1	T	C	2: 30,287,107 (GRCm39)	F180L	probably damaging	Het
Kctd19	T	C	8: 106,113,594 (GRCm39)	H670R	probably benign	Het
Kntc1	T	A	5: 123,903,068 (GRCm39)	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,797,471 (GRCm39)	W295R	probably damaging	Het
Mgam	A	G	6: 40,631,627 (GRCm39)	T116A	probably damaging	Het
Mn1	A	T	5: 111,569,114 (GRCm39)	D1028V	probably damaging	Het
Or1e17	G	A	11: 73,832,020 (GRCm39)	G316D	probably benign	Het
Or2ag1b	A	G	7: 106,288,738 (GRCm39)	S67P	probably damaging	Het
Or52b1	T	C	7: 104,978,899 (GRCm39)	R167G	probably damaging	Het
Or52j3	A	T	7: 102,836,617 (GRCm39)	I270F	probably damaging	Het
Or7a40	A	G	16: 16,491,129 (GRCm39)	S239P	probably damaging	Het
Or7g27	T	G	9: 19,250,068 (GRCm39)	V104G	possibly damaging	Het
Phc3	C	A	3: 31,015,888 (GRCm39)	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,429,712 (GRCm39)	Y3310C	probably damaging	Het
Ppp4r3b	T	C	11: 29,159,488 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,119 (GRCm39)	T159A	probably benign	Het
Sos1	T	A	17: 80,716,040 (GRCm39)	Y974F	probably damaging	Het
Spaca7b	T	A	8: 11,706,136 (GRCm39)	M133L	probably benign	Het
Taar8a	A	T	10: 23,952,813 (GRCm39)	Y139F	possibly damaging	Het
Vcam1	A	G	3: 115,909,591 (GRCm39)	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,782,054 (GRCm39)	V547M	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
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

2013-12-03