Mutagenetix > Incidental Mutations

Incidental Mutation 'R3981:Cep89'

351168

Institutional Source

Beutler Lab

Gene Symbol

Cep89

Ensembl Gene

ENSMUSG00000023072

Gene Name

centrosomal protein 89

Synonyms

Ccdc123, 2610507L03Rik

MMRRC Submission

040943-MU

Accession Numbers

Genbank: NM_028120; MGI: 1919390

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R3981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35397035-35438689 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35438383 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 731 (R731G)

Ref Sequence

ENSEMBL: ENSMUSP00000078383 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079414
AA Change: R731G

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

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: R731G

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

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072

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

possibly damaging
Transcript: ENSMUST00000150421
AA Change: R138G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121422
Gene: ENSMUSG00000023072
AA Change: R138G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185699

Meta Mutation Damage Score

0.4438

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	C	T	4: 42,971,534	T289I	probably damaging	Het
Abca13	T	G	11: 9,532,407	C4313G	probably benign	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bhlhe22	G	T	3: 18,054,894	R36L	probably damaging	Het
Cacnb2	A	G	2: 14,604,503	E18G	probably benign	Het
Cct2	G	A	10: 117,054,135	P10L	probably damaging	Het
Cep295	G	T	9: 15,317,067		probably benign	Het
Chrnb3	C	T	8: 27,394,006	T257M	probably damaging	Het
Clca3a1	T	A	3: 144,755,309	T194S	probably benign	Het
Clca4b	T	C	3: 144,926,036	K236R	probably benign	Het
Col18a1	C	A	10: 77,088,887	D23Y	probably damaging	Het
Cry1	A	T	10: 85,146,592	Y297N	probably damaging	Het
Defb38	A	G	8: 19,026,467		probably null	Het
Dlgap1	A	G	17: 70,516,785	K255R	probably damaging	Het
Erich6	T	C	3: 58,636,704	E154G	probably benign	Het
Esf1	G	A	2: 140,158,556	P437S	probably benign	Het
Fkbp7	A	C	2: 76,663,257	N197K	probably damaging	Het
Fsip2	T	A	2: 82,958,662	D342E	probably benign	Het
Gbx1	T	C	5: 24,526,215	D201G	probably benign	Het
Gm15056	T	A	8: 20,900,941	K25N	possibly damaging	Het
Grb7	T	G	11: 98,454,565		probably benign	Het
H2-M3	C	T	17: 37,271,130	A159V	probably damaging	Het
Hcar1	T	C	5: 123,878,620	N336S	probably benign	Het
Ift122	T	C	6: 115,913,921	V807A	probably benign	Het
Maml2	T	C	9: 13,621,068	V526A	possibly damaging	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mfap2	A	G	4: 141,014,243	Q71R	possibly damaging	Het
Mmd2	T	C	5: 142,564,799	Y228C	probably damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Mras	T	C	9: 99,411,416	D57G	probably damaging	Het
Muc5ac	T	C	7: 141,813,775	C2274R	possibly damaging	Het
Olfr1062	T	A	2: 86,422,842	Y278F	probably damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Prpmp5	G	A	6: 132,312,694	P56S	unknown	Het
Rdh19	A	G	10: 127,850,148	N43S	probably benign	Het
Ros1	G	A	10: 52,120,878	H1233Y	possibly damaging	Het
Samd8	A	G	14: 21,780,180	R225G	probably null	Het
Slc7a11	C	A	3: 50,427,774	V175L	probably benign	Het
Spata31d1c	A	G	13: 65,035,111	T156A	possibly damaging	Het
Stxbp5	T	C	10: 9,789,316		probably benign	Het
Tec	T	A	5: 72,823,599		probably benign	Het
Tex37	T	C	6: 70,913,299	N170D	possibly damaging	Het
Vps16	T	C	2: 130,442,594	W728R	possibly damaging	Het
Xirp1	T	C	9: 120,017,744	E691G	probably damaging	Het
Zfp605	T	C	5: 110,127,738	S241P	probably damaging	Het
Zfp839	G	A	12: 110,866,331	G561D	probably damaging	Het

Other mutations in Cep89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Cep89	APN	7	35405707	missense	possibly damaging	0.92
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
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
R7365:Cep89	UTSW	7	35429928	missense	probably damaging	0.97
R7366: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
R7819:Cep89	UTSW	7	35432543	missense	probably benign	0.07
V7732:Cep89	UTSW	7	35403098	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGACTCACACAGGCTATTG -3'
(R):5'- AGACAGGAGATCTACGCCATAG -3'

Sequencing Primer
(F):5'- CGGAAGTTGACATCAGGATCTTCC -3'
(R):5'- GCCATAGATTCCCCCAGACTCTG -3'

Posted On

2015-10-08