Mutagenetix > Incidental Mutation

Incidental Mutation 'R3689:Cep162'

269676

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

040684-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87189577-87255536 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87225694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 548 (Q548*)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093802]

AlphaFold

Q6ZQ06

Predicted Effect

probably null
Transcript: ENSMUST00000093802
AA Change: Q548*

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: Q548*

Domain	Start	End	E-Value	Type
low complexity region	198	208	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
coiled coil region	630	674	N/A	INTRINSIC
coiled coil region	695	899	N/A	INTRINSIC
coiled coil region	953	1124	N/A	INTRINSIC
coiled coil region	1235	1386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188289

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	C	9: 92,352,620	N60T	probably damaging	Het
Adcy2	A	T	13: 68,630,969	L984Q	probably damaging	Het
Atg16l1	T	C	1: 87,785,904	V427A	probably damaging	Het
Bclaf1	C	T	10: 20,325,397	T423I	possibly damaging	Het
Blm	G	C	7: 80,513,079	P175A	possibly damaging	Het
Bpifb1	A	G	2: 154,209,899	D208G	probably benign	Het
Cdc42ep1	T	C	15: 78,847,429	S25P	probably benign	Het
Chchd10	T	C	10: 75,936,001		probably benign	Het
Cog3	T	C	14: 75,754,438	M1V	probably null	Het
Dcx	T	C	X: 143,877,244	E268G	possibly damaging	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Erich2	T	C	2: 70,540,753	V419A	unknown	Het
Fam129a	A	G	1: 151,703,696		probably null	Het
Fam53c	A	G	18: 34,770,833	D386G	probably damaging	Het
Fgd2	A	G	17: 29,378,950	T620A	probably benign	Het
G930045G22Rik	A	T	6: 50,846,555		noncoding transcript	Het
Grpel1	G	A	5: 36,469,425		probably null	Het
Map3k15	T	A	X: 160,122,572	N1295K	possibly damaging	Het
Mrpl44	T	A	1: 79,779,649	Y270*	probably null	Het
Mtss1	A	G	15: 58,953,536	S272P	probably damaging	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
N4bp1	C	T	8: 86,860,556	D585N	probably damaging	Het
Napb	T	C	2: 148,703,057		probably null	Het
Nexmif	A	T	X: 104,087,607	Y235N	probably damaging	Het
Nms	T	C	1: 38,946,994		probably benign	Het
Nsun2	A	G	13: 69,612,337	N45D	probably damaging	Het
Olfr1221	T	A	2: 89,112,042	I157L	possibly damaging	Het
Pak6	C	T	2: 118,693,440	Q359*	probably null	Het
Pcdhb12	C	T	18: 37,436,074	A91V	probably benign	Het
Pde11a	T	A	2: 76,291,166	K357I	probably damaging	Het
Piwil4	T	C	9: 14,725,963	T352A	probably damaging	Het
Sec31a	T	A	5: 100,382,907	D239V	probably damaging	Het
Slc13a4	T	C	6: 35,268,910	N600S	possibly damaging	Het
Smc1b	T	A	15: 85,117,263		probably benign	Het
Spatc1	A	T	15: 76,268,295	K42*	probably null	Het
Sprr2j-ps	A	G	3: 92,418,983	H55R	probably benign	Het
Srsf9	A	G	5: 115,327,328	D7G	probably benign	Het
Stt3a	T	C	9: 36,759,322	Y51C	probably damaging	Het
Taf5	A	G	19: 47,078,785	K519E	probably damaging	Het
Taf7l	A	T	X: 134,464,325	I449K	probably damaging	Het
Tnk1	C	A	11: 69,855,599	D263Y	probably damaging	Het
Ttc21b	T	A	2: 66,224,144	I714F	probably benign	Het
Ttn	C	G	2: 76,799,244	W14284C	probably damaging	Het
Txn1	T	C	4: 57,950,846	D61G	probably benign	Het
Ugcg	T	C	4: 59,211,883	V83A	probably benign	Het
Ulk3	T	C	9: 57,593,794	V348A	probably benign	Het
Wdr93	A	G	7: 79,771,585	T409A	possibly damaging	Het
Wfikkn1	A	G	17: 25,878,718	C211R	probably damaging	Het
Zap70	T	C	1: 36,781,412	C563R	probably damaging	Het
Zc3h12c	C	T	9: 52,115,956	R721H	probably benign	Het
Zfp169	A	G	13: 48,506,901		probably benign	Het

Other mutations in Cep162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cep162	APN	9	87227167	missense	probably benign	0.24
IGL00584:Cep162	APN	9	87221090	splice site	probably benign
IGL01387:Cep162	APN	9	87211811	missense	probably benign	0.08
IGL01862:Cep162	APN	9	87253933	missense	possibly damaging	0.90
IGL02304:Cep162	APN	9	87227147	splice site	probably benign
IGL02558:Cep162	APN	9	87225733	missense	probably benign	0.04
IGL02558:Cep162	APN	9	87225726	missense	probably benign
IGL02602:Cep162	APN	9	87246153	missense	probably benign	0.19
IGL02636:Cep162	APN	9	87248379	missense	possibly damaging	0.90
IGL02680:Cep162	APN	9	87246744	missense	possibly damaging	0.64
IGL03195:Cep162	APN	9	87225786	missense	probably benign	0.00
circus	UTSW	9	87206862	missense	probably damaging	1.00
moscow	UTSW	9	87193697	missense	probably damaging	1.00
smiley	UTSW	9	87217081	nonsense	probably null
PIT4378001:Cep162	UTSW	9	87217145	missense	probably benign	0.01
PIT4431001:Cep162	UTSW	9	87244345	missense	probably benign	0.00
PIT4434001:Cep162	UTSW	9	87193648	missense	probably damaging	1.00
R0060:Cep162	UTSW	9	87237825	splice site	probably benign
R0218:Cep162	UTSW	9	87211809	missense	possibly damaging	0.73
R0366:Cep162	UTSW	9	87220484	missense	probably damaging	0.96
R0468:Cep162	UTSW	9	87193697	missense	probably damaging	1.00
R0764:Cep162	UTSW	9	87201745	missense	probably damaging	1.00
R1386:Cep162	UTSW	9	87221202	missense	probably benign
R1614:Cep162	UTSW	9	87212932	missense	probably damaging	1.00
R1633:Cep162	UTSW	9	87203683	missense	probably benign	0.23
R1831:Cep162	UTSW	9	87206932	missense	probably damaging	1.00
R1847:Cep162	UTSW	9	87204080	missense	probably benign	0.06
R1941:Cep162	UTSW	9	87199995	missense	probably benign	0.14
R2228:Cep162	UTSW	9	87244331	missense	probably benign	0.05
R2256:Cep162	UTSW	9	87206914	missense	probably damaging	1.00
R2257:Cep162	UTSW	9	87206914	missense	probably damaging	1.00
R2936:Cep162	UTSW	9	87227414	missense	probably benign
R3005:Cep162	UTSW	9	87232060	missense	probably benign	0.00
R3508:Cep162	UTSW	9	87231977	critical splice donor site	probably null
R3743:Cep162	UTSW	9	87217177	splice site	probably benign
R4118:Cep162	UTSW	9	87204176	missense	probably benign	0.30
R4380:Cep162	UTSW	9	87200003	missense	probably damaging	0.99
R4450:Cep162	UTSW	9	87225808	missense	probably damaging	1.00
R4540:Cep162	UTSW	9	87212939	missense	probably damaging	1.00
R4598:Cep162	UTSW	9	87203795	missense	possibly damaging	0.95
R4700:Cep162	UTSW	9	87206862	missense	probably damaging	1.00
R4941:Cep162	UTSW	9	87225969	intron	probably benign
R5356:Cep162	UTSW	9	87206895	missense	probably damaging	1.00
R5468:Cep162	UTSW	9	87227237	missense	probably benign	0.00
R5579:Cep162	UTSW	9	87203671	missense	probably benign	0.26
R5859:Cep162	UTSW	9	87204092	missense	probably damaging	1.00
R6114:Cep162	UTSW	9	87203710	missense	probably benign
R6143:Cep162	UTSW	9	87212851	critical splice donor site	probably null
R6422:Cep162	UTSW	9	87232016	missense	possibly damaging	0.92
R6517:Cep162	UTSW	9	87222174	missense	probably damaging	0.99
R6576:Cep162	UTSW	9	87217145	missense	probably benign	0.01
R6782:Cep162	UTSW	9	87211684	missense	probably benign	0.07
R6867:Cep162	UTSW	9	87217081	nonsense	probably null
R7293:Cep162	UTSW	9	87203783	missense	probably benign	0.01
R7355:Cep162	UTSW	9	87253955	nonsense	probably null
R7391:Cep162	UTSW	9	87248494	nonsense	probably null
R7426:Cep162	UTSW	9	87192766	missense	probably damaging	1.00
R7593:Cep162	UTSW	9	87204197	missense	probably benign	0.40
R7710:Cep162	UTSW	9	87232119	missense	probably damaging	1.00
R7841:Cep162	UTSW	9	87244316	missense	probably benign	0.00
R7949:Cep162	UTSW	9	87206848	missense	probably benign	0.04
R8351:Cep162	UTSW	9	87192850	nonsense	probably null
R8451:Cep162	UTSW	9	87192850	nonsense	probably null
R8552:Cep162	UTSW	9	87244308	missense	probably benign	0.34
R8755:Cep162	UTSW	9	87232011	missense	probably benign	0.02
R8762:Cep162	UTSW	9	87227261	missense	probably benign	0.00
X0063:Cep162	UTSW	9	87222042	critical splice donor site	probably null
Z1177:Cep162	UTSW	9	87199980	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGACCCTCGTTCTGTTTG -3'
(R):5'- AGCACACCTTCTTTGCCTAAG -3'

Sequencing Primer
(F):5'- AATATTCTCATCAACCGCTTTTCAC -3'
(R):5'- CCTTCTTTGCCTAAGAGAAAGC -3'

Posted On

2015-02-19