Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Cep192'

454361

Institutional Source

Beutler Lab

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

MMRRC Submission

044077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5869 (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 67948935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: D252G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: D252G

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Itpr1	T	C	6: 108,450,490 (GRCm39)	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Pitx3	A	T	19: 46,125,735 (GRCm39)		probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,388,943 (GRCm39)	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Spart	A	T	3: 55,042,931 (GRCm39)	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp523	T	C	17: 28,413,967 (GRCm39)	I34T	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	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
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
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'- AGTTACTGAAGCCTCTTGGAATC -3'
(R):5'- GGTTTTAGGCTAAAGATTCGAAAGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GCATGCATCATGAGGAAG -3'

Posted On

2017-02-10