Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4434001:Cep162'

555065

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4434001 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

87071630-87137589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87075701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1310 (K1310N)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000093802
AA Change: K1310N

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

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: K1310N

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

Coding Region Coverage

1x: 93.3%
3x: 90.6%
10x: 84.3%
20x: 70.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	A	11: 117,696,869 (GRCm39)	D196E	probably benign	Het
Abcb5	G	A	12: 118,854,422 (GRCm39)	S831F	probably damaging	Het
Alg2	C	A	4: 47,474,076 (GRCm39)	A71S	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Ano1	A	G	7: 144,164,632 (GRCm39)	V664A	probably benign	Het
Bbox1	A	C	2: 110,105,979 (GRCm39)	D188E	probably benign	Het
Bmi1	C	T	2: 18,689,042 (GRCm39)	T242M	probably benign	Het
C4bp	A	G	1: 130,584,947 (GRCm39)	F30L	probably benign	Het
Carmil3	A	G	14: 55,732,145 (GRCm39)	N214S	probably null	Het
Cfap74	G	A	4: 155,548,421 (GRCm39)	V21M	unknown	Het
Copa	A	G	1: 171,933,742 (GRCm39)	D401G	probably benign	Het
Cyp4f14	A	G	17: 33,125,104 (GRCm39)	V439A	possibly damaging	Het
Ddhd1	A	C	14: 45,848,062 (GRCm39)	N569K	possibly damaging	Het
Dennd5a	A	G	7: 109,532,831 (GRCm39)	L313P	probably damaging	Het
Eri2	A	G	7: 119,385,524 (GRCm39)	F326L	probably benign	Het
Fam135a	A	T	1: 24,068,276 (GRCm39)	H864Q	probably benign	Het
Fat3	C	T	9: 15,907,612 (GRCm39)	V2797I	probably benign	Het
Fbn2	T	C	18: 58,229,134 (GRCm39)	D692G	probably damaging	Het
Fbxw20	A	G	9: 109,052,500 (GRCm39)	S278P	probably damaging	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Grn	C	T	11: 102,326,766 (GRCm39)	H482Y	possibly damaging	Het
Igkv7-33	A	G	6: 70,035,797 (GRCm39)	Y62H	possibly damaging	Het
Kdm4c	A	G	4: 74,189,569 (GRCm39)	T95A	probably benign	Het
Lrp3	T	C	7: 34,903,420 (GRCm39)	T309A	probably damaging	Het
Map3k2	C	A	18: 32,343,088 (GRCm39)	D279E	possibly damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Mcpt9	A	G	14: 56,266,686 (GRCm39)	S14P	probably benign	Het
Or10b1	T	C	10: 78,355,549 (GRCm39)	F36L	possibly damaging	Het
Or51a8	T	C	7: 102,549,837 (GRCm39)	F88L	probably benign	Het
Or52a33	A	C	7: 103,289,054 (GRCm39)	C98G	probably damaging	Het
Otud7b	G	A	3: 96,047,776 (GRCm39)	R45H	probably damaging	Het
Pcdhb17	A	G	18: 37,618,704 (GRCm39)	N165D	probably damaging	Het
Pogz	A	G	3: 94,779,681 (GRCm39)	T538A	probably damaging	Het
Prlr	A	G	15: 10,328,458 (GRCm39)	E311G	probably damaging	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Raet1d	A	T	10: 22,247,433 (GRCm39)	K170*	probably null	Het
Rufy2	A	T	10: 62,826,845 (GRCm39)	Q128L	possibly damaging	Het
Svopl	T	C	6: 37,991,801 (GRCm39)	N360D	possibly damaging	Het
Syt4	A	C	18: 31,573,384 (GRCm39)	L377W	probably damaging	Het
Taar7a	A	G	10: 23,869,319 (GRCm39)	F21L	probably benign	Het
Tax1bp3	T	A	11: 73,071,630 (GRCm39)	M78K	probably damaging	Het
Top2b	T	C	14: 16,423,780 (GRCm38)		probably null	Het
Trim52	A	T	14: 106,344,732 (GRCm39)	D130V	probably benign	Het
Ttc1	T	C	11: 43,635,955 (GRCm39)	Y96C	probably damaging	Het
Vmn2r49	T	C	7: 9,710,762 (GRCm39)	T657A	probably damaging	Het
Vps13d	A	T	4: 144,881,817 (GRCm39)	F1259I		Het
Zbtb18	A	T	1: 177,275,989 (GRCm39)	T441S	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
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
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'- ACAGCTAGGCAAGATGCTGC -3'
(R):5'- CAGCACAGCTAGAATTACCCTTTAC -3'

Sequencing Primer
(F):5'- CTAGGCAAGATGCTGCAGTAGTG -3'
(R):5'- CTTCTTGGATATGAGAATGGAAGC -3'

Posted On

2019-06-07