Mutagenetix > Incidental Mutation

Incidental Mutation 'R4118:Cep162'

315174

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

041631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4118 (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 87086229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1032 (T1032A)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably benign
Transcript: ENSMUST00000093802
AA Change: T1032A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: T1032A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157106

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

92% (55/60)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,503 (GRCm39)	R31G	possibly damaging	Het
4932414N04Rik	C	T	2: 68,566,857 (GRCm39)	R419C	probably benign	Het
Ankmy1	T	C	1: 92,816,418 (GRCm39)	E232G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,428 (GRCm39)	K1245M	probably damaging	Het
Atp2c1	A	G	9: 105,343,858 (GRCm39)	L83P	probably damaging	Het
Atp9b	T	C	18: 80,793,044 (GRCm39)	D1000G	possibly damaging	Het
Atxn7	T	C	14: 14,100,308 (GRCm38)	S665P	probably benign	Het
Bbs4	T	C	9: 59,237,708 (GRCm39)	Y212C	possibly damaging	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Chd7	G	A	4: 8,865,831 (GRCm39)	E668K	probably damaging	Het
Dek	T	C	13: 47,242,076 (GRCm39)	T201A	probably benign	Het
Depdc5	T	A	5: 33,121,979 (GRCm39)	S1079T	probably damaging	Het
Etaa1	A	T	11: 17,896,180 (GRCm39)	S646T	probably benign	Het
Fat1	T	C	8: 45,463,474 (GRCm39)	S1339P	probably damaging	Het
Fat1	C	A	8: 45,503,981 (GRCm39)	D4491E	probably damaging	Het
Gmps	T	C	3: 63,887,615 (GRCm39)	V29A	probably benign	Het
Gpr18	T	C	14: 122,149,968 (GRCm39)	E19G	probably benign	Het
Ipo5	A	G	14: 121,176,073 (GRCm39)	T633A	probably benign	Het
Jmjd1c	T	A	10: 67,055,532 (GRCm39)	S317R	probably damaging	Het
Lama3	T	A	18: 12,583,488 (GRCm39)	M692K	probably benign	Het
Lrp12	A	T	15: 39,741,361 (GRCm39)	C451*	probably null	Het
Lrp2	C	T	2: 69,260,606 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,664,870 (GRCm39)	I387F	probably damaging	Het
Naglu	G	A	11: 100,964,908 (GRCm39)	V332I	probably benign	Het
Nat2	G	A	8: 67,954,271 (GRCm39)	R127H	possibly damaging	Het
Otx2	G	A	14: 48,896,611 (GRCm39)	T141I	probably benign	Het
Paqr9	T	A	9: 95,442,952 (GRCm39)	I314N	probably damaging	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Ppm1d	A	G	11: 85,202,408 (GRCm39)	D37G	probably benign	Het
Prdm9	T	G	17: 15,764,275 (GRCm39)	D835A	probably benign	Het
Ptprq	A	G	10: 107,547,781 (GRCm39)	S206P	probably benign	Het
Rapgef2	A	G	3: 78,976,194 (GRCm39)		probably null	Het
Rpgrip1l	G	A	8: 91,979,535 (GRCm39)	T969I	probably benign	Het
Rpp40	A	G	13: 36,080,787 (GRCm39)	Y316H	probably damaging	Het
Serpinb3d	A	T	1: 107,006,960 (GRCm39)	D249E	possibly damaging	Het
Slc22a29	A	C	19: 8,137,893 (GRCm39)		probably benign	Het
Slc35f1	T	C	10: 52,965,464 (GRCm39)	M293T	probably damaging	Het
Slmap	A	T	14: 26,204,027 (GRCm39)	L98H	probably damaging	Het
Tiam1	C	T	16: 89,673,921 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,600,684 (GRCm39)	Y890C	probably damaging	Het
Tmem131l	T	C	3: 83,868,074 (GRCm39)	T194A	probably benign	Het
Ubap1	A	T	4: 41,371,767 (GRCm39)	D26V	probably damaging	Het
Vmn2r91	T	A	17: 18,330,358 (GRCm39)	N547K	probably damaging	Het
Wiz	C	T	17: 32,588,331 (GRCm39)		probably benign	Het
Wwp2	A	G	8: 108,272,091 (GRCm39)	T399A	probably benign	Het
Zfp729b	A	T	13: 67,740,829 (GRCm39)	F479I	possibly damaging	Het
Zswim5	G	A	4: 116,844,016 (GRCm39)	R1018H	possibly 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
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
R4540:Cep162	UTSW	9	87,094,992 (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'- TCCACGGTCTTTGTAAGGTC -3'
(R):5'- ACAGTAAAACGTAGGGCTTCAC -3'

Sequencing Primer
(F):5'- GCTGCCAGCTCTTCATTGAG -3'
(R):5'- CGTAGGGCTTCACTAAGTAATGATG -3'

Posted On

2015-05-14