Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Cep192'

602667

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

4631422C13Rik, D430014P18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67800107-67885170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67837956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1009 (R1009S)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: R1009S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: R1009S

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

probably benign
Transcript: ENSMUST00000225303

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427		probably benign	Het
Arc	G	C	15: 74,672,131	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531		probably benign	Het
Clvs2	T	A	10: 33,622,925	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
Efhb	T	C	17: 53,400,891	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786		probably benign	Het
Fsip2	T	A	2: 82,991,521	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006		probably null	Het
Gnl2	T	A	4: 125,043,725		probably null	Het
Grip2	C	T	6: 91,783,593	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783		probably benign	Het
Lrrc8d	T	C	5: 105,812,641	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296		probably benign	Het
Map1b	G	T	13: 99,430,750	A1821E	unknown	Het
Maz	A	G	7: 127,025,497	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027		probably benign	Het
Mmp14	C	T	14: 54,439,014	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603		probably benign	Het
Olfr118	A	C	17: 37,672,858	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157		probably null	Het
Olfr461	T	C	6: 40,544,362	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305			Het
Olfr585	TTA	TTAGTA	7: 103,098,306		probably null	Het
Olfr710	T	A	7: 106,944,648	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016		probably benign	Het
Rp1	A	G	1: 4,344,694	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369		probably benign	Het
Sepsecs	G	A	5: 52,647,191	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Tfeb	C	T	17: 47,788,078	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352		probably null	Het
Tmem94	G	A	11: 115,796,132	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	Het
Zfp407	A	T	18: 84,209,563	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442	S254P	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
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
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
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
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'- GGCAACCTTTTCTTCAATGGTATC -3'
(R):5'- GTCAAGCATCACTACTTCCTTTGG -3'

Sequencing Primer
(F):5'- ATAGACAGGAGTGGCCTT -3'
(R):5'- GGTCTCAAAGCCTTATTAAAGAGAC -3'

Posted On

2019-12-04