Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Cep192'

675901

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

4631422C13Rik, D430014P18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67800107-67885170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67834632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 729 (V729A)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: V729A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: V729A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly 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
R5869:Cep192	UTSW	18	67815864	missense	probably benign	0.01
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
R8935:Cep192	UTSW	18	67862472	missense	probably damaging	1.00
R9453:Cep192	UTSW	18	67856283	nonsense	probably null
R9571:Cep192	UTSW	18	67819038	missense	probably damaging	0.98
R9581:Cep192	UTSW	18	67847394	missense	probably damaging	1.00
R9599:Cep192	UTSW	18	67835454	missense	probably benign	0.19
R9779:Cep192	UTSW	18	67835277	missense	probably damaging	1.00
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'- ACATGTCCTTGTATGTAGAGTGAG -3'
(R):5'- TCAGATGTGCCTGCTCTTG -3'

Sequencing Primer
(F):5'- ACACTGTCTGGTGGTGAA -3'
(R):5'- CAGATGTGCCTGCTCTTGAAAGG -3'

Posted On

2021-07-15