Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Cep162'

355932

Institutional Source

Beutler Lab

Gene Symbol

Cep162

Ensembl Gene

ENSMUSG00000056919

Gene Name

centrosomal protein 162

Synonyms

4922501C03Rik

MMRRC Submission

041948-MU

Accession Numbers

Essential gene?

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

Stock #

R4700 (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 87088915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 989 (Q989R)

Ref Sequence

ENSEMBL: ENSMUSP00000091319 (fasta)

Gene Model

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

AlphaFold

Q6ZQ06

Predicted Effect

probably damaging
Transcript: ENSMUST00000093802
AA Change: Q989R

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

SMART Domains

Protein: ENSMUSP00000091319
Gene: ENSMUSG00000056919
AA Change: Q989R

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

0.1285

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,742,795 (GRCm39)		probably benign	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abca14	T	A	7: 119,911,928 (GRCm39)		probably null	Het
Abca8a	A	C	11: 109,961,308 (GRCm39)	V538G	probably damaging	Het
Acy1	C	T	9: 106,310,782 (GRCm39)	G329R	probably benign	Het
Adamts17	T	C	7: 66,691,636 (GRCm39)	C607R	probably damaging	Het
Adamts20	A	T	15: 94,292,503 (GRCm39)	C202*	probably null	Het
Adcy5	A	G	16: 35,099,586 (GRCm39)	N712S	possibly damaging	Het
Ahnak	A	G	19: 8,982,045 (GRCm39)	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127 (GRCm39)	H578L	possibly damaging	Het
Appl1	C	A	14: 26,647,928 (GRCm39)	L626F	probably benign	Het
Arl1	A	G	10: 88,566,499 (GRCm39)		probably benign	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Carm1	A	G	9: 21,498,480 (GRCm39)	N466S	probably benign	Het
Cbl	A	G	9: 44,084,677 (GRCm39)	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,839,027 (GRCm39)		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc7	T	C	5: 107,121,707 (GRCm39)	F207L	probably benign	Het
Celsr2	T	C	3: 108,304,547 (GRCm39)	R2271G	probably benign	Het
Cep89	A	G	7: 35,137,862 (GRCm39)	T749A	probably benign	Het
Clcn5	T	C	X: 7,032,591 (GRCm39)		probably null	Het
Clu	A	T	14: 66,217,313 (GRCm39)	Y382F	probably benign	Het
Cnih4	A	G	1: 180,993,808 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,126,509 (GRCm39)	L1340P	probably damaging	Het
Ddx4	T	C	13: 112,750,269 (GRCm39)	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,520,405 (GRCm39)	E484G	probably benign	Het
Dsg4	G	T	18: 20,589,965 (GRCm39)	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,704,191 (GRCm39)	D21G	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,935,560 (GRCm39)		probably null	Het
F10	G	T	8: 13,089,621 (GRCm39)	V67F	possibly damaging	Het
Fat3	A	G	9: 15,942,469 (GRCm39)	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Flt4	C	A	11: 49,517,271 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,990,312 (GRCm39)	T1128I	unknown	Het
Fos	T	C	12: 85,522,936 (GRCm39)	S283P	probably benign	Het
Fryl	T	C	5: 73,222,881 (GRCm39)	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,817,373 (GRCm39)	Q4369K	probably benign	Het
Gad2	A	T	2: 22,563,982 (GRCm39)	H395L	probably damaging	Het
Grm2	T	A	9: 106,531,130 (GRCm39)	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,227,751 (GRCm39)	I1974N	probably damaging	Het
Il23r	T	C	6: 67,450,834 (GRCm39)	N215S	probably damaging	Het
Jph1	T	A	1: 17,161,928 (GRCm39)	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,127,908 (GRCm39)	G83R	probably damaging	Het
Map2	A	G	1: 66,449,796 (GRCm39)	E173G	probably damaging	Het
Med29	T	A	7: 28,086,352 (GRCm39)	D152V	possibly damaging	Het
Megf8	A	G	7: 25,062,940 (GRCm39)	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,025,978 (GRCm39)		probably benign	Het
Myh7	A	G	14: 55,225,778 (GRCm39)	I521T	possibly damaging	Het
Mylk	G	T	16: 34,742,805 (GRCm39)	V1106L	probably benign	Het
Myo15b	A	T	11: 115,752,761 (GRCm39)	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,466,785 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,359,922 (GRCm39)	V438A	possibly damaging	Het
Nav3	A	G	10: 109,600,796 (GRCm39)	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841 (GRCm38)	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809 (GRCm38)	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944 (GRCm39)	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,480,085 (GRCm39)	V487E	probably damaging	Het
Oc90	T	A	15: 65,753,354 (GRCm39)	R322W	possibly damaging	Het
Or1q1	C	A	2: 36,887,515 (GRCm39)	A231D	probably benign	Het
Or4f60	A	G	2: 111,902,097 (GRCm39)	V277A	possibly damaging	Het
Or52e4	A	T	7: 104,705,483 (GRCm39)	H10L	possibly damaging	Het
Or8b4	A	G	9: 37,830,217 (GRCm39)	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,662,160 (GRCm39)	H231R	probably damaging	Het
Pate6	A	T	9: 35,701,021 (GRCm39)	C22S	probably damaging	Het
Pdzph1	T	C	17: 59,281,541 (GRCm39)	H247R	probably damaging	Het
Pidd1	T	C	7: 141,022,162 (GRCm39)	N209S	probably damaging	Het
Pknox1	C	T	17: 31,822,286 (GRCm39)	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,935,576 (GRCm39)	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,519,976 (GRCm39)	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,631,224 (GRCm39)	D21G	possibly damaging	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,318,908 (GRCm39)		noncoding transcript	Het
Sdc1	A	G	12: 8,840,541 (GRCm39)	E106G	possibly damaging	Het
Slc10a5	T	G	3: 10,400,360 (GRCm39)	Q100P	probably damaging	Het
Slc10a5	C	A	3: 10,400,359 (GRCm39)	Q100H	probably damaging	Het
Slc5a9	A	T	4: 111,748,134 (GRCm39)	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,012,475 (GRCm39)	V197A	probably benign	Het
Spire1	T	C	18: 67,645,935 (GRCm39)	M244V	probably benign	Het
St3gal3	C	T	4: 117,817,232 (GRCm39)	V141I	probably benign	Het
St6galnac4	G	T	2: 32,477,172 (GRCm39)		probably benign	Het
Svep1	T	C	4: 58,097,323 (GRCm39)	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,100,745 (GRCm39)	C78R	probably damaging	Het
Tcstv5	T	C	13: 120,411,378 (GRCm39)	Y76C	probably benign	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869 (GRCm39)	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,806,519 (GRCm39)	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,029,692 (GRCm39)	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,030,245 (GRCm39)	R184L	probably damaging	Het
Trpv1	A	T	11: 73,142,110 (GRCm39)	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,755,533 (GRCm39)	S132T	probably benign	Het
Ttc28	T	C	5: 111,424,909 (GRCm39)	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,240,100 (GRCm39)		probably null	Het
Tubal3	T	A	13: 3,983,514 (GRCm39)	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,240,301 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,903,190 (GRCm39)	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,149,586 (GRCm39)	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,149,587 (GRCm39)	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,694,942 (GRCm39)	G474E	probably damaging	Het
Vps26b	T	C	9: 26,926,511 (GRCm39)	K163E	probably damaging	Het
Zfp142	A	G	1: 74,609,431 (GRCm39)	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,603,844 (GRCm39)	E52K	possibly damaging	Het
Zfp423	T	A	8: 88,508,338 (GRCm39)		probably null	Het
Zfp493	T	C	13: 67,934,736 (GRCm39)	F230L	probably damaging	Het
Zfp760	T	C	17: 21,941,388 (GRCm39)	C188R	probably benign	Het
Zfyve28	G	T	5: 34,375,189 (GRCm39)	T275K	probably damaging	Het
Znhit3	T	C	11: 84,807,155 (GRCm39)	N5D	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
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
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'- CAACAGGGGTATCTTGTGCTTG -3'
(R):5'- GGGATTCTGAAGAGAAGGTATCCC -3'

Sequencing Primer
(F):5'- TGACTAGCCTGTCTGGAACAC -3'
(R):5'- GAGAAGGTATCCCAACTCTTTGC -3'

Posted On

2015-10-21