Mutagenetix > Incidental Mutation

Incidental Mutation 'R3433:Cep192'

266320

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

040651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67967963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 816 (R816G)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: R816G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: R816G

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,893,455 (GRCm39)	W1302R	probably damaging	Het
Abcf1	A	G	17: 36,269,109 (GRCm39)	Y689H	probably benign	Het
Adamtsl5	T	C	10: 80,178,725 (GRCm39)	T218A	probably benign	Het
Ahnak	G	T	19: 8,987,358 (GRCm39)	V2881L	probably benign	Het
Atp6v1b1	C	A	6: 83,720,074 (GRCm39)	T3K	possibly damaging	Het
Atp8b5	A	T	4: 43,372,697 (GRCm39)	R1112S	probably benign	Het
Carmil3	A	G	14: 55,745,151 (GRCm39)	D1331G	probably benign	Het
Catsperg2	A	G	7: 29,400,643 (GRCm39)	F696S	possibly damaging	Het
Cd33	T	C	7: 43,179,331 (GRCm39)	T273A	probably benign	Het
Cenpf	C	T	1: 189,392,146 (GRCm39)	C562Y	probably damaging	Het
Cnot11	G	A	1: 39,584,268 (GRCm39)		probably null	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Dnah9	T	C	11: 65,965,938 (GRCm39)	M1693V	possibly damaging	Het
Fbxo41	A	G	6: 85,454,613 (GRCm39)	I701T	probably damaging	Het
Figla	G	T	6: 85,994,411 (GRCm39)	R62L	probably damaging	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10845	C	T	14: 80,100,851 (GRCm39)		noncoding transcript	Het
Gm5114	T	C	7: 39,058,621 (GRCm39)	K333E	probably benign	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Il6st	A	G	13: 112,640,365 (GRCm39)	K653E	probably damaging	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Leng8	C	A	7: 4,145,131 (GRCm39)	T177K	probably benign	Het
Lrrtm2	A	C	18: 35,346,950 (GRCm39)	S117R	probably damaging	Het
Megf8	G	T	7: 25,059,549 (GRCm39)	A2285S	probably benign	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,708,870 (GRCm39)		probably null	Het
Nars1	A	T	18: 64,642,374 (GRCm39)	M156K	probably damaging	Het
Ndor1	A	G	2: 25,137,823 (GRCm39)	S499P	possibly damaging	Het
Or2a57	A	T	6: 43,212,607 (GRCm39)	I22F	probably damaging	Het
Or2r11	G	A	6: 42,437,888 (GRCm39)	H22Y	probably benign	Het
Or4a78	T	C	2: 89,497,577 (GRCm39)	I218V	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Ros1	A	G	10: 51,967,204 (GRCm39)	Y1668H	probably benign	Het
Rrbp1	A	G	2: 143,794,200 (GRCm39)		probably benign	Het
Rtn4rl2	T	C	2: 84,702,444 (GRCm39)	Y376C	probably damaging	Het
Seh1l	A	C	18: 67,926,222 (GRCm39)	K358T	probably benign	Het
Sema3e	A	T	5: 14,302,728 (GRCm39)	Y751F	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spred2	G	T	11: 19,948,277 (GRCm39)	E91*	probably null	Het
Sspo	A	T	6: 48,452,885 (GRCm39)		probably null	Het
Tcaf1	A	G	6: 42,663,508 (GRCm39)	V124A	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,360 (GRCm39)		probably benign	Het
Txndc11	T	C	16: 10,906,052 (GRCm39)	T493A	probably benign	Het
Usp17lb	T	A	7: 104,490,855 (GRCm39)	Q23L	possibly damaging	Het
Vgf	T	C	5: 137,059,873 (GRCm39)	F12L	probably benign	Het
Zfp13	G	A	17: 23,795,602 (GRCm39)	T323I	probably damaging	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
R2307:Cep192	UTSW	18	67,946,970 (GRCm39)	missense	probably benign	0.07
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
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'- AGAGGACTGTCCAAACATCTC -3'
(R):5'- CCGCACATCCAGTAAAGTGTC -3'

Sequencing Primer
(F):5'- GAGGACTGTCCAAACATCTCTCATG -3'
(R):5'- TGTCAACAGAGGGTGGCATCC -3'

Posted On

2015-02-18