Mutagenetix > Incidental Mutations

Incidental Mutation 'R5869:Cep192'

454361

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

4631422C13Rik, D430014P18Rik

MMRRC Submission

044077-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67800107-67885170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67815864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025425]

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: D252G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: D252G

Domain	Start	End	E-Value	Type
low complexity region	70	84	N/A	INTRINSIC
low complexity region	195	217	N/A	INTRINSIC
low complexity region	975	991	N/A	INTRINSIC
low complexity region	1189	1204	N/A	INTRINSIC
low complexity region	2051	2069	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225077

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,616		probably benign	Het
Arsk	T	C	13: 76,091,784	E100G	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Aspscr1	T	C	11: 120,688,920	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,940		probably benign	Het
Calm5	T	A	13: 3,854,321		probably benign	Het
Car5a	G	A	8: 121,916,380	T295I	probably benign	Het
Ccdc174	T	A	6: 91,885,418		probably benign	Het
Celsr2	G	A	3: 108,413,909	A529V	probably damaging	Het
Clcnka	A	G	4: 141,394,965	F217L	probably benign	Het
Cnot3	A	T	7: 3,644,930		probably benign	Het
Coro1c	A	G	5: 113,850,846		probably benign	Het
Cstf3	A	G	2: 104,659,240		probably null	Het
Dcdc2a	C	T	13: 25,107,730	P233S	probably benign	Het
Ddx55	A	G	5: 124,568,682	T581A	probably benign	Het
Exo1	T	C	1: 175,901,283	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,029,430	E616G	possibly damaging	Het
Fignl2	T	C	15: 101,053,280	S374G	unknown	Het
Gm4799	A	T	10: 82,954,449		noncoding transcript	Het
Hectd4	T	C	5: 121,343,225		probably null	Het
Ighv1-76	T	C	12: 115,848,038	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,323,235	H465Q	probably benign	Het
Itga9	A	G	9: 118,663,889	D284G	probably damaging	Het
Itpr1	T	C	6: 108,473,529	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,188,071	S185P	probably benign	Het
Kif20a	G	A	18: 34,632,415	A822T	probably benign	Het
Krt1	A	T	15: 101,850,131	F199L	probably damaging	Het
Lpin2	A	G	17: 71,232,276		probably benign	Het
Lrp1b	A	C	2: 41,004,603	D2204E	probably damaging	Het
Mier3	T	A	13: 111,714,850	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446		probably benign	Het
Mroh3	T	A	1: 136,186,123	M643L	probably benign	Het
Myh11	A	G	16: 14,230,800	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,808,523	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,548,134	R179Q	probably damaging	Het
Nup88	T	C	11: 70,969,671	E94G	probably benign	Het
Pias1	A	T	9: 62,912,766	D306E	probably benign	Het
Pick1	A	G	15: 79,248,895	D385G	probably benign	Het
Pitx3	A	T	19: 46,137,296		probably benign	Het
Plpp3	T	A	4: 105,194,962		probably null	Het
Prlhr	C	A	19: 60,467,621	R169L	probably damaging	Het
Ptprf	A	C	4: 118,210,382	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,601,940	D35G	probably benign	Het
Rnf130	A	G	11: 50,085,815		probably null	Het
Rnf17	A	C	14: 56,505,988	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,851,882	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,498,117	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,684,459	V855G	probably benign	Het
Slc5a5	C	A	8: 70,892,330	R111L	probably damaging	Het
Spg20	A	T	3: 55,135,510	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,687	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,266,562	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 154,926,598		probably null	Het
Tnfrsf19	C	T	14: 60,971,178	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,958,792	K809E	probably benign	Het
Ttn	G	A	2: 76,750,209	P23447S	probably damaging	Het
Uap1	T	A	1: 170,151,138		probably null	Het
Wdr82	A	G	9: 106,185,304	Q252R	probably benign	Het
Zfp523	T	C	17: 28,194,993	I34T	probably benign	Het
Zfp808	T	A	13: 62,171,255	H99Q	probably damaging	Het

Other mutations in Cep192

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cep192	APN	18	67820336	missense	probably damaging	1.00
IGL00163:Cep192	APN	18	67880800	missense	possibly damaging	0.61
IGL00509:Cep192	APN	18	67858868	missense	possibly damaging	0.78
IGL01012:Cep192	APN	18	67812406	missense	possibly damaging	0.95
IGL01143:Cep192	APN	18	67804375	missense	probably damaging	0.97
IGL01302:Cep192	APN	18	67858903	missense	probably benign	0.03
IGL01653:Cep192	APN	18	67852972	missense	possibly damaging	0.57
IGL02202:Cep192	APN	18	67803137	missense	possibly damaging	0.83
IGL02448:Cep192	APN	18	67869447	missense	probably benign	0.25
IGL02494:Cep192	APN	18	67804383	missense	probably benign	0.00
IGL02574:Cep192	APN	18	67841279	missense	probably damaging	0.99
IGL02624:Cep192	APN	18	67880795	missense	probably benign	0.20
IGL02646:Cep192	APN	18	67862477	missense	probably damaging	1.00
IGL02652:Cep192	APN	18	67858850	splice site	probably benign
IGL02684:Cep192	APN	18	67834563	missense	probably damaging	0.99
IGL02977:Cep192	APN	18	67852905	missense	probably damaging	0.97
IGL03000:Cep192	APN	18	67852044	missense	probably damaging	1.00
IGL03133:Cep192	APN	18	67810105	missense	probably benign	0.00
IGL03139:Cep192	APN	18	67828476	critical splice donor site	probably null
IGL03213:Cep192	APN	18	67865637	missense	probably damaging	1.00
IGL03250:Cep192	APN	18	67807355	missense	probably benign	0.01
IGL03259:Cep192	APN	18	67820412	missense	probably damaging	1.00
R0117:Cep192	UTSW	18	67850737	critical splice donor site	probably null
R0180:Cep192	UTSW	18	67835488	missense	probably damaging	1.00
R0281:Cep192	UTSW	18	67828482	splice site	probably benign
R0374:Cep192	UTSW	18	67818883	nonsense	probably null
R0420:Cep192	UTSW	18	67813893	missense	possibly damaging	0.91
R0479:Cep192	UTSW	18	67858018	missense	probably damaging	1.00
R0652:Cep192	UTSW	18	67807265	missense	probably benign	0.04
R1024:Cep192	UTSW	18	67838054	missense	probably benign	0.37
R1382:Cep192	UTSW	18	67856299	missense	possibly damaging	0.74
R1394:Cep192	UTSW	18	67858921	missense	probably damaging	1.00
R1395:Cep192	UTSW	18	67858921	missense	probably damaging	1.00
R1641:Cep192	UTSW	18	67847433	missense	probably damaging	1.00
R1704:Cep192	UTSW	18	67856256	missense	probably damaging	1.00
R1793:Cep192	UTSW	18	67851767	missense	possibly damaging	0.74
R1835:Cep192	UTSW	18	67804424	missense	possibly damaging	0.95
R1978:Cep192	UTSW	18	67803158	critical splice donor site	probably null
R2164:Cep192	UTSW	18	67820360	missense	probably damaging	0.99
R2180:Cep192	UTSW	18	67824742	missense	possibly damaging	0.82
R2307:Cep192	UTSW	18	67813899	missense	probably benign	0.07
R2442:Cep192	UTSW	18	67824688	missense	possibly damaging	0.89
R2897:Cep192	UTSW	18	67855270	splice site	probably null
R2898:Cep192	UTSW	18	67855270	splice site	probably null
R2901:Cep192	UTSW	18	67869441	missense	possibly damaging	0.94
R3433:Cep192	UTSW	18	67834892	missense	probably benign	0.08
R3620:Cep192	UTSW	18	67829857	missense	probably benign	0.00
R3621:Cep192	UTSW	18	67829857	missense	probably benign	0.00
R3712:Cep192	UTSW	18	67820329	missense	probably benign	0.00
R4559:Cep192	UTSW	18	67871513	missense	probably damaging	1.00
R4590:Cep192	UTSW	18	67816791	nonsense	probably null
R4591:Cep192	UTSW	18	67834968	missense	probably damaging	0.99
R4604:Cep192	UTSW	18	67815922	missense	possibly damaging	0.64
R4627:Cep192	UTSW	18	67812369	missense	probably benign	0.03
R4725:Cep192	UTSW	18	67816766	missense	probably benign
R4738:Cep192	UTSW	18	67884830	nonsense	probably null
R4739:Cep192	UTSW	18	67851732	missense	probably benign	0.02
R4927:Cep192	UTSW	18	67835124	missense	probably benign	0.16
R4948:Cep192	UTSW	18	67816804	missense	probably benign	0.00
R5090:Cep192	UTSW	18	67860546	missense	possibly damaging	0.60
R5105:Cep192	UTSW	18	67866541	missense	probably benign	0.08
R5154:Cep192	UTSW	18	67850684	missense	probably damaging	1.00
R5192:Cep192	UTSW	18	67835004	missense	probably benign	0.03
R5735:Cep192	UTSW	18	67880795	missense	probably benign	0.20
R5812:Cep192	UTSW	18	67851737	missense	possibly damaging	0.49
R5981:Cep192	UTSW	18	67860590	missense	probably damaging	1.00
R6131:Cep192	UTSW	18	67837997	missense	possibly damaging	0.65
R6335:Cep192	UTSW	18	67834713	missense	probably damaging	1.00
R6849:Cep192	UTSW	18	67812435	missense	probably benign	0.00
R6861:Cep192	UTSW	18	67841628	missense	probably benign	0.43
R7192:Cep192	UTSW	18	67850528	missense	probably damaging	0.99
R7264:Cep192	UTSW	18	67820355	missense	probably damaging	1.00
R7397:Cep192	UTSW	18	67856197	missense	probably damaging	1.00
R7409:Cep192	UTSW	18	67834803	missense	possibly damaging	0.76
R7696:Cep192	UTSW	18	67820363	missense	probably damaging	1.00
R7756:Cep192	UTSW	18	67856313	missense	possibly damaging	0.92
R7758:Cep192	UTSW	18	67856313	missense	possibly damaging	0.92
R8247:Cep192	UTSW	18	67841117	missense	probably benign	0.02
R8695:Cep192	UTSW	18	67818887	nonsense	probably null
R8865:Cep192	UTSW	18	67834632	missense	probably benign	0.01
R8935:Cep192	UTSW	18	67862472	missense	probably damaging	1.00
R9453:Cep192	UTSW	18	67856283	nonsense	probably null
RF003:Cep192	UTSW	18	67837956	missense	probably benign	0.44
X0066:Cep192	UTSW	18	67812449	splice site	probably null
Z1176:Cep192	UTSW	18	67881288	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTACTGAAGCCTCTTGGAATC -3'
(R):5'- GGTTTTAGGCTAAAGATTCGAAAGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GCATGCATCATGAGGAAG -3'

Posted On

2017-02-10