Mutagenetix > Incidental Mutation

Incidental Mutation 'R4540:Cep162'

333493

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

041776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87071630-87137589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87094992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 806 (K806E)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000093802
AA Change: K806E

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

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: K806E

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: ENSMUST00000139301

Meta Mutation Damage Score

0.1179

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,119 (GRCm39)	H164L	probably damaging	Het
Arrdc3	C	A	13: 81,038,790 (GRCm39)	R31S	possibly damaging	Het
Baiap3	C	T	17: 25,465,644 (GRCm39)	V585M	probably damaging	Het
Braf	A	G	6: 39,621,267 (GRCm39)	S391P	probably damaging	Het
Ccdc51	T	C	9: 108,921,288 (GRCm39)	F392L	possibly damaging	Het
Cd1d1	A	G	3: 86,904,012 (GRCm39)	I194T	probably benign	Het
Cntn4	A	G	6: 106,652,709 (GRCm39)	E726G	probably damaging	Het
Col11a1	A	G	3: 113,890,815 (GRCm39)	Y384C	unknown	Het
Cops3	A	T	11: 59,720,980 (GRCm39)	L145H	probably damaging	Het
Cul9	C	T	17: 46,814,015 (GRCm39)	M2286I	probably null	Het
Echdc1	G	A	10: 29,220,578 (GRCm39)	V245I	probably benign	Het
Fsip2	A	T	2: 82,782,009 (GRCm39)	M261L	probably benign	Het
Gm4353	A	G	7: 115,683,212 (GRCm39)	L123P	probably benign	Het
Hcfc2	G	C	10: 82,568,481 (GRCm39)	E42Q	probably benign	Het
Hfm1	A	C	5: 107,022,087 (GRCm39)	Y199*	probably null	Het
Iba57	G	A	11: 59,053,904 (GRCm39)		probably benign	Het
Ihh	T	A	1: 74,987,558 (GRCm39)	N161I	possibly damaging	Het
Kcnh7	A	G	2: 62,569,530 (GRCm39)	S789P	probably damaging	Het
Kndc1	C	A	7: 139,501,343 (GRCm39)	C877*	probably null	Het
Lhcgr	A	G	17: 89,063,036 (GRCm39)	I212T	probably benign	Het
Lrrtm2	T	A	18: 35,346,199 (GRCm39)	T368S	probably benign	Het
Mag	A	C	7: 30,600,154 (GRCm39)	V500G	probably damaging	Het
Nadsyn1	A	G	7: 143,356,960 (GRCm39)	V512A	probably damaging	Het
Nlrp3	G	A	11: 59,442,725 (GRCm39)	C759Y	possibly damaging	Het
Nup107	T	C	10: 117,597,925 (GRCm39)		probably null	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or4f56	T	C	2: 111,703,546 (GRCm39)	Y218C	probably damaging	Het
Pcdha1	A	C	18: 37,064,680 (GRCm39)	D448A	probably damaging	Het
Pitrm1	T	A	13: 6,605,506 (GRCm39)		probably null	Het
Pth2r	A	G	1: 65,321,360 (GRCm39)	N13S	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Selenoi	A	G	5: 30,461,085 (GRCm39)	D107G	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spag17	C	T	3: 99,995,697 (GRCm39)	P1779S	probably damaging	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Tbc1d30	T	C	10: 121,115,063 (GRCm39)	E365G	probably damaging	Het
Tnxb	C	T	17: 34,922,309 (GRCm39)	T2374I	possibly damaging	Het
Trip12	A	G	1: 84,726,997 (GRCm39)	I1T	probably damaging	Het

Other mutations in Cep162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Cep162	APN	9	87,109,220 (GRCm39)	missense	probably benign	0.24
IGL00584:Cep162	APN	9	87,103,143 (GRCm39)	splice site	probably benign
IGL01387:Cep162	APN	9	87,093,864 (GRCm39)	missense	probably benign	0.08
IGL01862:Cep162	APN	9	87,135,986 (GRCm39)	missense	possibly damaging	0.90
IGL02304:Cep162	APN	9	87,109,200 (GRCm39)	splice site	probably benign
IGL02558:Cep162	APN	9	87,107,779 (GRCm39)	missense	probably benign
IGL02558:Cep162	APN	9	87,107,786 (GRCm39)	missense	probably benign	0.04
IGL02602:Cep162	APN	9	87,128,206 (GRCm39)	missense	probably benign	0.19
IGL02636:Cep162	APN	9	87,130,432 (GRCm39)	missense	possibly damaging	0.90
IGL02680:Cep162	APN	9	87,128,797 (GRCm39)	missense	possibly damaging	0.64
IGL03195:Cep162	APN	9	87,107,839 (GRCm39)	missense	probably benign	0.00
circus	UTSW	9	87,088,915 (GRCm39)	missense	probably damaging	1.00
moscow	UTSW	9	87,075,750 (GRCm39)	missense	probably damaging	1.00
smiley	UTSW	9	87,099,134 (GRCm39)	nonsense	probably null
PIT4378001:Cep162	UTSW	9	87,099,198 (GRCm39)	missense	probably benign	0.01
PIT4431001:Cep162	UTSW	9	87,126,398 (GRCm39)	missense	probably benign	0.00
PIT4434001:Cep162	UTSW	9	87,075,701 (GRCm39)	missense	probably damaging	1.00
R0060:Cep162	UTSW	9	87,119,878 (GRCm39)	splice site	probably benign
R0218:Cep162	UTSW	9	87,093,862 (GRCm39)	missense	possibly damaging	0.73
R0366:Cep162	UTSW	9	87,102,537 (GRCm39)	missense	probably damaging	0.96
R0468:Cep162	UTSW	9	87,075,750 (GRCm39)	missense	probably damaging	1.00
R0764:Cep162	UTSW	9	87,083,798 (GRCm39)	missense	probably damaging	1.00
R1386:Cep162	UTSW	9	87,103,255 (GRCm39)	missense	probably benign
R1614:Cep162	UTSW	9	87,094,985 (GRCm39)	missense	probably damaging	1.00
R1633:Cep162	UTSW	9	87,085,736 (GRCm39)	missense	probably benign	0.23
R1831:Cep162	UTSW	9	87,088,985 (GRCm39)	missense	probably damaging	1.00
R1847:Cep162	UTSW	9	87,086,133 (GRCm39)	missense	probably benign	0.06
R1941:Cep162	UTSW	9	87,082,048 (GRCm39)	missense	probably benign	0.14
R2228:Cep162	UTSW	9	87,126,384 (GRCm39)	missense	probably benign	0.05
R2256:Cep162	UTSW	9	87,088,967 (GRCm39)	missense	probably damaging	1.00
R2257:Cep162	UTSW	9	87,088,967 (GRCm39)	missense	probably damaging	1.00
R2936:Cep162	UTSW	9	87,109,467 (GRCm39)	missense	probably benign
R3005:Cep162	UTSW	9	87,114,113 (GRCm39)	missense	probably benign	0.00
R3508:Cep162	UTSW	9	87,114,030 (GRCm39)	critical splice donor site	probably null
R3689:Cep162	UTSW	9	87,107,747 (GRCm39)	nonsense	probably null
R3743:Cep162	UTSW	9	87,099,230 (GRCm39)	splice site	probably benign
R4118:Cep162	UTSW	9	87,086,229 (GRCm39)	missense	probably benign	0.30
R4380:Cep162	UTSW	9	87,082,056 (GRCm39)	missense	probably damaging	0.99
R4450:Cep162	UTSW	9	87,107,861 (GRCm39)	missense	probably damaging	1.00
R4598:Cep162	UTSW	9	87,085,848 (GRCm39)	missense	possibly damaging	0.95
R4700:Cep162	UTSW	9	87,088,915 (GRCm39)	missense	probably damaging	1.00
R4941:Cep162	UTSW	9	87,108,022 (GRCm39)	intron	probably benign
R5356:Cep162	UTSW	9	87,088,948 (GRCm39)	missense	probably damaging	1.00
R5468:Cep162	UTSW	9	87,109,290 (GRCm39)	missense	probably benign	0.00
R5579:Cep162	UTSW	9	87,085,724 (GRCm39)	missense	probably benign	0.26
R5859:Cep162	UTSW	9	87,086,145 (GRCm39)	missense	probably damaging	1.00
R6114:Cep162	UTSW	9	87,085,763 (GRCm39)	missense	probably benign
R6143:Cep162	UTSW	9	87,094,904 (GRCm39)	critical splice donor site	probably null
R6422:Cep162	UTSW	9	87,114,069 (GRCm39)	missense	possibly damaging	0.92
R6517:Cep162	UTSW	9	87,104,227 (GRCm39)	missense	probably damaging	0.99
R6576:Cep162	UTSW	9	87,099,198 (GRCm39)	missense	probably benign	0.01
R6782:Cep162	UTSW	9	87,093,737 (GRCm39)	missense	probably benign	0.07
R6867:Cep162	UTSW	9	87,099,134 (GRCm39)	nonsense	probably null
R7293:Cep162	UTSW	9	87,085,836 (GRCm39)	missense	probably benign	0.01
R7355:Cep162	UTSW	9	87,136,008 (GRCm39)	nonsense	probably null
R7391:Cep162	UTSW	9	87,130,547 (GRCm39)	nonsense	probably null
R7426:Cep162	UTSW	9	87,074,819 (GRCm39)	missense	probably damaging	1.00
R7593:Cep162	UTSW	9	87,086,250 (GRCm39)	missense	probably benign	0.40
R7710:Cep162	UTSW	9	87,114,172 (GRCm39)	missense	probably damaging	1.00
R7841:Cep162	UTSW	9	87,126,369 (GRCm39)	missense	probably benign	0.00
R7949:Cep162	UTSW	9	87,088,901 (GRCm39)	missense	probably benign	0.04
R8351:Cep162	UTSW	9	87,074,903 (GRCm39)	nonsense	probably null
R8451:Cep162	UTSW	9	87,074,903 (GRCm39)	nonsense	probably null
R8552:Cep162	UTSW	9	87,126,361 (GRCm39)	missense	probably benign	0.34
R8755:Cep162	UTSW	9	87,114,064 (GRCm39)	missense	probably benign	0.02
R8762:Cep162	UTSW	9	87,109,314 (GRCm39)	missense	probably benign	0.00
R9640:Cep162	UTSW	9	87,126,352 (GRCm39)	missense	probably benign	0.06
X0063:Cep162	UTSW	9	87,104,095 (GRCm39)	critical splice donor site	probably null
Z1177:Cep162	UTSW	9	87,082,033 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGACTACAAGCTATGTTCAGGG -3'
(R):5'- CAGGCTGTGGGAAGTTACTG -3'

Sequencing Primer
(F):5'- TGCTCACCTGTGGCATA -3'
(R):5'- GGTAGAGCACCTTCTGTCCC -3'

Posted On

2015-08-18