Mutagenetix > Incidental Mutation

Incidental Mutation 'R4380:Cep162'

325301

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

041678-MU

Accession Numbers

Essential gene?

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

Stock #

R4380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87071630-87137589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87082056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1283 (R1283L)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000093802
AA Change: R1283L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: R1283L

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

0.2851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	T	C	7: 44,326,580 (GRCm39)		noncoding transcript	Het
Casc3	C	A	11: 98,713,857 (GRCm39)	P363Q	possibly damaging	Het
Clk3	C	A	9: 57,659,075 (GRCm39)	W562L	probably damaging	Het
Col17a1	G	A	19: 47,645,529 (GRCm39)	T844M	possibly damaging	Het
Dntt	G	C	19: 41,041,672 (GRCm39)	G452A	probably damaging	Het
Dop1b	G	A	16: 93,513,120 (GRCm39)	V20I	possibly damaging	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
Dync1li2	A	T	8: 105,154,798 (GRCm39)	I270N	probably damaging	Het
Egflam	A	T	15: 7,273,350 (GRCm39)	I575N	possibly damaging	Het
Gldc	G	T	19: 30,138,168 (GRCm39)		probably benign	Het
Gm17067	C	A	7: 42,357,462 (GRCm39)	V347L	probably benign	Het
Gmds	T	A	13: 32,101,679 (GRCm39)	N304I	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Igfn1	T	C	1: 135,895,509 (GRCm39)	T1686A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamb3	A	T	1: 193,013,683 (GRCm39)	Q519L	probably benign	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Macf1	A	G	4: 123,248,285 (GRCm39)		probably benign	Het
Mcfd2	C	G	17: 87,565,387 (GRCm39)	G39R	possibly damaging	Het
Mecom	T	C	3: 30,041,219 (GRCm39)	H125R	probably damaging	Het
Nme7	A	G	1: 164,172,807 (GRCm39)	T173A	probably benign	Het
Or4s2b	A	G	2: 88,508,615 (GRCm39)	T132A	possibly damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Pde1c	T	A	6: 56,049,263 (GRCm39)	R683S	probably null	Het
Pkn2	A	T	3: 142,536,217 (GRCm39)		probably benign	Het
Plppr4	T	G	3: 117,116,046 (GRCm39)	T604P	probably benign	Het
Pramel23	T	A	4: 143,424,856 (GRCm39)	I196F	probably benign	Het
Slc34a2	C	T	5: 53,226,628 (GRCm39)	P584S	probably damaging	Het
Slco5a1	A	T	1: 13,009,392 (GRCm39)	M361K	probably damaging	Het
Snx4	T	A	16: 33,084,666 (GRCm39)	I60N	probably damaging	Het
Sp6	T	C	11: 96,912,572 (GRCm39)	L95P	probably damaging	Het
Stat5b	A	G	11: 100,678,175 (GRCm39)	F646S	probably damaging	Het
Tbc1d1	T	C	5: 64,490,891 (GRCm39)	M785T	probably benign	Het
Tbc1d22a	T	A	15: 86,235,935 (GRCm39)	C365S	probably damaging	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Tnfsf8	A	T	4: 63,779,264 (GRCm39)	C11*	probably null	Het
Ttn	A	T	2: 76,748,485 (GRCm39)	V4188E	probably damaging	Het
Ugt2b5	T	A	5: 87,275,753 (GRCm39)	H366L	probably damaging	Het
Wdr17	T	C	8: 55,101,442 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,683,022 (GRCm39)	Y3487C	unknown	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	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
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'- CATATGGTGGTTACTGTGTAAGCC -3'
(R):5'- TCTACGTAGTATTCAAGGAGGAGC -3'

Sequencing Primer
(F):5'- AGCCATATTAAAACAGGTTTGGG -3'
(R):5'- GAGGAGCCTTATTAGCCAAATAATTC -3'

Posted On

2015-07-06