Mutagenetix > Incidental Mutation

Incidental Mutation 'R2307:Cep192'

244662

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

040306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67946970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 215 (Y215C)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: Y215C

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: Y215C

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

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	C	12: 84,122,375 (GRCm39)	F320L	possibly damaging	Het
Alox12e	T	C	11: 70,212,087 (GRCm39)	K170R	probably damaging	Het
Ano2	T	C	6: 125,969,849 (GRCm39)	S722P	probably benign	Het
Ces2g	A	G	8: 105,695,044 (GRCm39)	N555S	probably benign	Het
Cfap58	C	T	19: 47,950,925 (GRCm39)	Q429*	probably null	Het
Clcnkb	A	G	4: 141,139,640 (GRCm39)	S121P	probably damaging	Het
Cltb	T	A	13: 54,746,564 (GRCm39)	E67D	probably damaging	Het
Ddhd1	A	T	14: 45,846,447 (GRCm39)	L581Q	probably damaging	Het
Dnajc3	T	C	14: 119,190,633 (GRCm39)		probably null	Het
Fgf14	T	A	14: 124,221,234 (GRCm39)	N190I	probably damaging	Het
Galnt17	T	G	5: 130,929,460 (GRCm39)	Y449S	probably damaging	Het
Grin3a	C	T	4: 49,793,033 (GRCm39)		probably null	Het
Gxylt2	A	G	6: 100,764,173 (GRCm39)	N286S	probably damaging	Het
H2-K2	A	G	17: 34,216,113 (GRCm39)	V120A	probably benign	Het
Inpp5f	T	C	7: 128,296,034 (GRCm39)	V168A	probably damaging	Het
Kif1a	G	T	1: 93,006,491 (GRCm39)	H59N	probably damaging	Het
Krt24	T	C	11: 99,175,456 (GRCm39)	Q193R	possibly damaging	Het
Krtap5-4	C	A	7: 141,857,351 (GRCm39)	S7*	probably null	Het
Ltn1	A	G	16: 87,229,312 (GRCm39)		probably null	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mep1b	A	T	18: 21,221,632 (GRCm39)	D194V	probably damaging	Het
Mettl25b	A	T	3: 87,834,162 (GRCm39)	M171K	possibly damaging	Het
Orc3	C	T	4: 34,586,503 (GRCm39)	V382M	probably damaging	Het
Pclo	T	A	5: 14,728,665 (GRCm39)		probably benign	Het
Pcolce	T	C	5: 137,607,356 (GRCm39)	H45R	probably damaging	Het
Prf1	T	C	10: 61,138,942 (GRCm39)	V300A	possibly damaging	Het
Prorp	T	C	12: 55,351,101 (GRCm39)	F137L	probably damaging	Het
Prss53	T	C	7: 127,490,037 (GRCm39)	I18V	probably benign	Het
Rnase2b	A	G	14: 51,400,188 (GRCm39)	T90A	probably benign	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec16b	G	A	1: 157,363,062 (GRCm39)	V298I	probably damaging	Het
Smarcd3	C	T	5: 24,800,746 (GRCm39)	R156Q	probably damaging	Het
St6galnac2	C	T	11: 116,572,731 (GRCm39)	A242T	probably damaging	Het
Syce1l	T	C	8: 114,369,937 (GRCm39)		probably null	Het
Tcam1	T	C	11: 106,174,940 (GRCm39)	C132R	probably damaging	Het
Trpa1	T	C	1: 14,982,605 (GRCm39)	I84V	probably benign	Het
Ttn	G	A	2: 76,717,342 (GRCm39)	R455*	probably null	Het
Ubl5	T	A	9: 20,557,876 (GRCm39)		probably benign	Het
Ubr2	T	A	17: 47,277,141 (GRCm39)	K779*	probably null	Het
Ugt1a10	A	G	1: 87,983,669 (GRCm39)	I156V	probably benign	Het
Unc13b	A	G	4: 43,239,854 (GRCm39)	T3513A	probably damaging	Het
Vmn1r20	C	T	6: 57,409,121 (GRCm39)	T149I	probably benign	Het
Zfp804a	T	A	2: 82,087,201 (GRCm39)	D343E	probably benign	Het

Other mutations in Cep192

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Cep192	APN	18	67,953,407 (GRCm39)	missense	probably damaging	1.00
IGL00163:Cep192	APN	18	68,013,871 (GRCm39)	missense	possibly damaging	0.61
IGL00509:Cep192	APN	18	67,991,939 (GRCm39)	missense	possibly damaging	0.78
IGL01012:Cep192	APN	18	67,945,477 (GRCm39)	missense	possibly damaging	0.95
IGL01143:Cep192	APN	18	67,937,445 (GRCm39)	missense	probably damaging	0.97
IGL01302:Cep192	APN	18	67,991,974 (GRCm39)	missense	probably benign	0.03
IGL01653:Cep192	APN	18	67,986,043 (GRCm39)	missense	possibly damaging	0.57
IGL02202:Cep192	APN	18	67,936,207 (GRCm39)	missense	possibly damaging	0.83
IGL02448:Cep192	APN	18	68,002,518 (GRCm39)	missense	probably benign	0.25
IGL02494:Cep192	APN	18	67,937,453 (GRCm39)	missense	probably benign	0.00
IGL02574:Cep192	APN	18	67,974,350 (GRCm39)	missense	probably damaging	0.99
IGL02624:Cep192	APN	18	68,013,866 (GRCm39)	missense	probably benign	0.20
IGL02646:Cep192	APN	18	67,995,548 (GRCm39)	missense	probably damaging	1.00
IGL02652:Cep192	APN	18	67,991,921 (GRCm39)	splice site	probably benign
IGL02684:Cep192	APN	18	67,967,634 (GRCm39)	missense	probably damaging	0.99
IGL02977:Cep192	APN	18	67,985,976 (GRCm39)	missense	probably damaging	0.97
IGL03000:Cep192	APN	18	67,985,115 (GRCm39)	missense	probably damaging	1.00
IGL03133:Cep192	APN	18	67,943,176 (GRCm39)	missense	probably benign	0.00
IGL03139:Cep192	APN	18	67,961,547 (GRCm39)	critical splice donor site	probably null
IGL03213:Cep192	APN	18	67,998,708 (GRCm39)	missense	probably damaging	1.00
IGL03250:Cep192	APN	18	67,940,426 (GRCm39)	missense	probably benign	0.01
IGL03259:Cep192	APN	18	67,953,483 (GRCm39)	missense	probably damaging	1.00
R0117:Cep192	UTSW	18	67,983,808 (GRCm39)	critical splice donor site	probably null
R0180:Cep192	UTSW	18	67,968,559 (GRCm39)	missense	probably damaging	1.00
R0281:Cep192	UTSW	18	67,961,553 (GRCm39)	splice site	probably benign
R0374:Cep192	UTSW	18	67,951,954 (GRCm39)	nonsense	probably null
R0420:Cep192	UTSW	18	67,946,964 (GRCm39)	missense	possibly damaging	0.91
R0479:Cep192	UTSW	18	67,991,089 (GRCm39)	missense	probably damaging	1.00
R0652:Cep192	UTSW	18	67,940,336 (GRCm39)	missense	probably benign	0.04
R1024:Cep192	UTSW	18	67,971,125 (GRCm39)	missense	probably benign	0.37
R1382:Cep192	UTSW	18	67,989,370 (GRCm39)	missense	possibly damaging	0.74
R1394:Cep192	UTSW	18	67,991,992 (GRCm39)	missense	probably damaging	1.00
R1395:Cep192	UTSW	18	67,991,992 (GRCm39)	missense	probably damaging	1.00
R1641:Cep192	UTSW	18	67,980,504 (GRCm39)	missense	probably damaging	1.00
R1704:Cep192	UTSW	18	67,989,327 (GRCm39)	missense	probably damaging	1.00
R1793:Cep192	UTSW	18	67,984,838 (GRCm39)	missense	possibly damaging	0.74
R1835:Cep192	UTSW	18	67,937,494 (GRCm39)	missense	possibly damaging	0.95
R1978:Cep192	UTSW	18	67,936,228 (GRCm39)	critical splice donor site	probably null
R2164:Cep192	UTSW	18	67,953,431 (GRCm39)	missense	probably damaging	0.99
R2180:Cep192	UTSW	18	67,957,813 (GRCm39)	missense	possibly damaging	0.82
R2442:Cep192	UTSW	18	67,957,759 (GRCm39)	missense	possibly damaging	0.89
R2897:Cep192	UTSW	18	67,988,341 (GRCm39)	splice site	probably null
R2898:Cep192	UTSW	18	67,988,341 (GRCm39)	splice site	probably null
R2901:Cep192	UTSW	18	68,002,512 (GRCm39)	missense	possibly damaging	0.94
R3433:Cep192	UTSW	18	67,967,963 (GRCm39)	missense	probably benign	0.08
R3620:Cep192	UTSW	18	67,962,928 (GRCm39)	missense	probably benign	0.00
R3621:Cep192	UTSW	18	67,962,928 (GRCm39)	missense	probably benign	0.00
R3712:Cep192	UTSW	18	67,953,400 (GRCm39)	missense	probably benign	0.00
R4559:Cep192	UTSW	18	68,004,584 (GRCm39)	missense	probably damaging	1.00
R4590:Cep192	UTSW	18	67,949,862 (GRCm39)	nonsense	probably null
R4591:Cep192	UTSW	18	67,968,039 (GRCm39)	missense	probably damaging	0.99
R4604:Cep192	UTSW	18	67,948,993 (GRCm39)	missense	possibly damaging	0.64
R4627:Cep192	UTSW	18	67,945,440 (GRCm39)	missense	probably benign	0.03
R4725:Cep192	UTSW	18	67,949,837 (GRCm39)	missense	probably benign
R4738:Cep192	UTSW	18	68,017,901 (GRCm39)	nonsense	probably null
R4739:Cep192	UTSW	18	67,984,803 (GRCm39)	missense	probably benign	0.02
R4927:Cep192	UTSW	18	67,968,195 (GRCm39)	missense	probably benign	0.16
R4948:Cep192	UTSW	18	67,949,875 (GRCm39)	missense	probably benign	0.00
R5090:Cep192	UTSW	18	67,993,617 (GRCm39)	missense	possibly damaging	0.60
R5105:Cep192	UTSW	18	67,999,612 (GRCm39)	missense	probably benign	0.08
R5154:Cep192	UTSW	18	67,983,755 (GRCm39)	missense	probably damaging	1.00
R5192:Cep192	UTSW	18	67,968,075 (GRCm39)	missense	probably benign	0.03
R5735:Cep192	UTSW	18	68,013,866 (GRCm39)	missense	probably benign	0.20
R5812:Cep192	UTSW	18	67,984,808 (GRCm39)	missense	possibly damaging	0.49
R5869:Cep192	UTSW	18	67,948,935 (GRCm39)	missense	probably benign	0.01
R5981:Cep192	UTSW	18	67,993,661 (GRCm39)	missense	probably damaging	1.00
R6131:Cep192	UTSW	18	67,971,068 (GRCm39)	missense	possibly damaging	0.65
R6335:Cep192	UTSW	18	67,967,784 (GRCm39)	missense	probably damaging	1.00
R6849:Cep192	UTSW	18	67,945,506 (GRCm39)	missense	probably benign	0.00
R6861:Cep192	UTSW	18	67,974,699 (GRCm39)	missense	probably benign	0.43
R7192:Cep192	UTSW	18	67,983,599 (GRCm39)	missense	probably damaging	0.99
R7264:Cep192	UTSW	18	67,953,426 (GRCm39)	missense	probably damaging	1.00
R7397:Cep192	UTSW	18	67,989,268 (GRCm39)	missense	probably damaging	1.00
R7409:Cep192	UTSW	18	67,967,874 (GRCm39)	missense	possibly damaging	0.76
R7696:Cep192	UTSW	18	67,953,434 (GRCm39)	missense	probably damaging	1.00
R7756:Cep192	UTSW	18	67,989,384 (GRCm39)	missense	possibly damaging	0.92
R7758:Cep192	UTSW	18	67,989,384 (GRCm39)	missense	possibly damaging	0.92
R8247:Cep192	UTSW	18	67,974,188 (GRCm39)	missense	probably benign	0.02
R8695:Cep192	UTSW	18	67,951,958 (GRCm39)	nonsense	probably null
R8865:Cep192	UTSW	18	67,967,703 (GRCm39)	missense	probably benign	0.01
R8935:Cep192	UTSW	18	67,995,543 (GRCm39)	missense	probably damaging	1.00
R9453:Cep192	UTSW	18	67,989,354 (GRCm39)	nonsense	probably null
R9571:Cep192	UTSW	18	67,952,109 (GRCm39)	missense	probably damaging	0.98
R9581:Cep192	UTSW	18	67,980,465 (GRCm39)	missense	probably damaging	1.00
R9599:Cep192	UTSW	18	67,968,525 (GRCm39)	missense	probably benign	0.19
R9779:Cep192	UTSW	18	67,968,348 (GRCm39)	missense	probably damaging	1.00
RF003:Cep192	UTSW	18	67,971,027 (GRCm39)	missense	probably benign	0.44
X0066:Cep192	UTSW	18	67,945,520 (GRCm39)	splice site	probably null
Z1176:Cep192	UTSW	18	68,014,359 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTATACCTCTTCTGGCTTTATG -3'
(R):5'- GTCCACAGGAAAGCCATAGACTTAAG -3'

Sequencing Primer
(F):5'- CCTCTTCTGGCTTTATGATAGTTTTC -3'
(R):5'- TCATCCTAGCAACTGGGGAGAC -3'

Posted On

2014-10-30