Mutagenetix > Incidental Mutation

Incidental Mutation 'R0117:Cep192'

177859

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

038403-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0117 (G1)

Quality Score

196

Status

Validated (trace)

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 67983808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably null
Transcript: ENSMUST00000025425

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542

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: ENSMUST00000223571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224921

Predicted Effect

probably benign
Transcript: ENSMUST00000225303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225677

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.1%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	A	T	17: 33,999,776 (GRCm39)	I141K	probably damaging	Het
Bbs10	T	A	10: 111,135,194 (GRCm39)	D102E	possibly damaging	Het
Btaf1	A	G	19: 36,947,368 (GRCm39)	T486A	probably benign	Het
Casp8ap2	A	G	4: 32,640,817 (GRCm39)	T624A	probably benign	Het
Cep76	T	C	18: 67,759,744 (GRCm39)	Y323C	possibly damaging	Het
CK137956	T	A	4: 127,840,585 (GRCm39)	T374S	possibly damaging	Het
Cyp2b23	A	T	7: 26,372,539 (GRCm39)	F359I	probably benign	Het
Cyp4f13	G	T	17: 33,149,580 (GRCm39)	H194Q	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eps15	T	A	4: 109,240,016 (GRCm39)	D667E	probably damaging	Het
Fig4	G	A	10: 41,106,037 (GRCm39)	R716*	probably null	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Gmpr	T	A	13: 45,670,560 (GRCm39)		probably null	Het
Gsta5	C	T	9: 78,211,700 (GRCm39)	T154I	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc2	C	A	7: 55,863,359 (GRCm39)		probably benign	Het
Htr2a	G	A	14: 74,882,533 (GRCm39)	R173H	probably damaging	Het
Impg2	A	G	16: 56,082,005 (GRCm39)	N979S	probably damaging	Het
Kcna2	A	G	3: 107,012,670 (GRCm39)	Y417C	probably damaging	Het
Lmf1	G	T	17: 25,874,965 (GRCm39)		probably benign	Het
Lmntd2	G	A	7: 140,790,036 (GRCm39)	R659C	possibly damaging	Het
Mcm9	A	G	10: 53,413,832 (GRCm39)	V416A	possibly damaging	Het
Mgarp	G	T	3: 51,304,133 (GRCm39)		probably benign	Het
Mpp3	G	A	11: 101,891,399 (GRCm39)	P580S	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Ninl	G	A	2: 150,779,593 (GRCm39)	R269W	probably damaging	Het
Or7e170	T	C	9: 19,795,595 (GRCm39)	E2G	probably damaging	Het
Or8g19	T	A	9: 39,056,146 (GRCm39)	I250N	probably damaging	Het
Or8h8	T	A	2: 86,753,214 (GRCm39)	I221F	probably damaging	Het
Pcnt	A	T	10: 76,244,561 (GRCm39)	L1173*	probably null	Het
Pde6c	A	G	19: 38,139,979 (GRCm39)	E314G	probably damaging	Het
Peds1	A	G	2: 167,486,678 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,623,003 (GRCm39)	M1V	probably null	Het
Pkdrej	T	A	15: 85,700,300 (GRCm39)		probably null	Het
Plch2	T	A	4: 155,069,815 (GRCm39)		probably benign	Het
Pld2	G	A	11: 70,448,214 (GRCm39)	R887Q	probably benign	Het
Plxnb1	A	G	9: 108,934,286 (GRCm39)	D838G	possibly damaging	Het
Postn	C	T	3: 54,290,902 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,473 (GRCm39)	I172F	probably damaging	Het
Psmc4	A	T	7: 27,742,165 (GRCm39)		probably benign	Het
Rabgap1	T	A	2: 37,451,897 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 78,986,484 (GRCm39)	S1017P	probably benign	Het
Rbak	G	T	5: 143,159,387 (GRCm39)	Y555*	probably null	Het
Serpina1c	T	G	12: 103,861,271 (GRCm39)	*414C	probably null	Het
Sntb1	A	G	15: 55,769,749 (GRCm39)	V80A	probably benign	Het
Sorl1	A	G	9: 41,944,873 (GRCm39)	V884A	probably benign	Het
Stmnd1	C	A	13: 46,438,962 (GRCm39)	Q65K	possibly damaging	Het
Tgm5	C	T	2: 120,905,583 (GRCm39)		probably null	Het
Tubb1	T	C	2: 174,299,577 (GRCm39)	S420P	probably benign	Het
Tvp23b	T	C	11: 62,770,430 (GRCm39)		probably benign	Het
Xirp2	C	T	2: 67,347,464 (GRCm39)	A3235V	possibly damaging	Het
Zc3h15	T	C	2: 83,488,427 (GRCm39)	S122P	possibly 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
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
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'- TAGCAGCCCCGTCCGTAGTC -3'
(R):5'- AGGTTTGACCCAAAATATCATGCCATCT -3'

Sequencing Primer
(F):5'- TGATGCCTGCCAGTTACGAC -3'
(R):5'- ATCTTCCCCATTTTCCAAACAAC -3'

Posted On

2014-04-30