Mutagenetix > Incidental Mutation

Incidental Mutation 'R1614:Cep162'

177002

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

039651-MU

Accession Numbers

Essential gene?

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

Stock #

R1614 (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 87094985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 808 (D808G)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000093802
AA Change: D808G

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

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: D808G

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

0.1240

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl9	A	G	5: 77,158,412 (GRCm39)	T165A	probably benign	Het
Atpaf1	A	T	4: 115,653,954 (GRCm39)	K201N	possibly damaging	Het
Cacna1b	G	T	2: 24,580,819 (GRCm39)	Q676K	possibly damaging	Het
Ccdc88c	A	T	12: 100,879,243 (GRCm39)	H1959Q	probably benign	Het
Chct1	T	G	11: 85,063,690 (GRCm39)	S28A	possibly damaging	Het
Chtf18	A	G	17: 25,946,064 (GRCm39)	L42P	probably benign	Het
Cox7c	A	G	13: 86,193,904 (GRCm39)	F40L	probably benign	Het
Dock7	C	T	4: 98,949,517 (GRCm39)	V442I	probably benign	Het
Dst	T	C	1: 34,314,344 (GRCm39)	F4198S	probably damaging	Het
Fam13a	T	A	6: 58,917,169 (GRCm39)	D569V	probably damaging	Het
Gm6741	T	A	17: 91,544,424 (GRCm39)	H62Q	probably benign	Het
Gnptab	A	G	10: 88,250,451 (GRCm39)	T172A	probably benign	Het
Greb1	A	G	12: 16,751,172 (GRCm39)	S1013P	probably damaging	Het
Insl5	A	T	4: 102,883,846 (GRCm39)	L25*	probably null	Het
Ipo13	A	G	4: 117,761,815 (GRCm39)	S462P	probably benign	Het
Itgb1	G	A	8: 129,446,546 (GRCm39)	C401Y	probably damaging	Het
Kcnh7	G	T	2: 62,680,948 (GRCm39)	A213E	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Mesp2	T	C	7: 79,461,367 (GRCm39)	S231P	probably benign	Het
Nabp1	T	C	1: 51,510,511 (GRCm39)	N164D	possibly damaging	Het
Nop53	A	G	7: 15,679,890 (GRCm39)	V30A	probably benign	Het
Or1j17	T	G	2: 36,578,321 (GRCm39)	Y102*	probably null	Het
Or4a73	T	A	2: 89,421,040 (GRCm39)	I140L	possibly damaging	Het
Or4f54	T	A	2: 111,123,411 (GRCm39)	V266E	probably damaging	Het
Or4f62	T	A	2: 111,986,862 (GRCm39)	C189S	probably damaging	Het
Pcsk5	G	A	19: 17,492,620 (GRCm39)	R918C	probably damaging	Het
Pecam1	T	C	11: 106,571,905 (GRCm39)	D554G	probably benign	Het
Polr2a	T	C	11: 69,634,199 (GRCm39)	I744V	possibly damaging	Het
Pop1	C	A	15: 34,530,356 (GRCm39)	A918D	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prmt3	A	T	7: 49,476,467 (GRCm39)	I359F	possibly damaging	Het
Proz	G	A	8: 13,116,904 (GRCm39)	C152Y	probably damaging	Het
Ptgfr	A	C	3: 151,507,416 (GRCm39)	Y316D	probably benign	Het
Ralgapa2	G	T	2: 146,230,532 (GRCm39)	S1011Y	probably damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Slc17a6	G	A	7: 51,296,025 (GRCm39)		probably benign	Het
Slc25a19	A	T	11: 115,507,449 (GRCm39)	C224*	probably null	Het
Smarcd3	A	G	5: 24,799,874 (GRCm39)	S299P	possibly damaging	Het
Stard9	T	C	2: 120,528,156 (GRCm39)	F1471S	possibly damaging	Het
Strada	A	C	11: 106,059,145 (GRCm39)	V211G	probably damaging	Het
Tom1l1	T	C	11: 90,574,080 (GRCm39)	E68G	probably damaging	Het
Vmn2r27	T	G	6: 124,200,893 (GRCm39)	I355L	probably benign	Het
Vmn2r68	A	T	7: 84,870,946 (GRCm39)	M779K	possibly damaging	Het
Zbtb18	T	C	1: 177,274,736 (GRCm39)	L23P	probably damaging	Het
Zfp112	G	T	7: 23,826,024 (GRCm39)	C664F	probably damaging	Het
Zfp955a	A	T	17: 33,461,306 (GRCm39)	N275K	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
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'- GGCTACGACCACAGGCTTCTAAAC -3'
(R):5'- TGGGAAGACTGGACCCAACACTAC -3'

Sequencing Primer
(F):5'- ACTACAAGCTATGTTCAGGGTAAG -3'
(R):5'- CACTACAGGCTGTGGGAAGTTAC -3'

Posted On

2014-04-24