Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03213:Cep192'

413393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep192

Ensembl Gene

ENSMUSG00000024542

Gene Name

centrosomal protein 192

Synonyms

D430014P18Rik, 4631422C13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03213

Quality Score

Status

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67998708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2074 (V2074A)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025425
AA Change: V2074A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: V2074A

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: ENSMUST00000224921

Predicted Effect

unknown
Transcript: ENSMUST00000225303
AA Change: V1013A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225681

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	T	2: 22,831,971 (GRCm39)	D447E	probably damaging	Het
Aldh8a1	T	C	10: 21,260,616 (GRCm39)	V175A	probably damaging	Het
Aoc1l3	A	G	6: 48,965,279 (GRCm39)	D429G	possibly damaging	Het
Arap2	T	A	5: 62,906,438 (GRCm39)	T194S	probably benign	Het
Arih2	T	C	9: 108,484,546 (GRCm39)	T422A	probably damaging	Het
Arl5b	T	A	2: 15,074,676 (GRCm39)	N52K	probably damaging	Het
Atg13	G	A	2: 91,515,512 (GRCm39)	H227Y	probably damaging	Het
Ccdc178	T	C	18: 22,253,748 (GRCm39)	T164A	possibly damaging	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Chrm3	G	A	13: 9,928,220 (GRCm39)	T272I	probably benign	Het
Cln8	A	G	8: 14,944,845 (GRCm39)	Y53C	probably damaging	Het
Cwc27	T	A	13: 104,932,911 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,892,529 (GRCm39)		probably benign	Het
Dchs1	G	T	7: 105,404,279 (GRCm39)	N2754K	probably damaging	Het
Dclk1	A	T	3: 55,387,805 (GRCm39)	K84*	probably null	Het
Ednra	T	C	8: 78,446,848 (GRCm39)	T77A	probably benign	Het
Epn2	T	C	11: 61,410,510 (GRCm39)	N553D	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gm10784	T	A	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,242,525 (GRCm39)	F76L	probably damaging	Het
Hnrnpll	A	T	17: 80,341,527 (GRCm39)	V504E	probably damaging	Het
Ifitm2	A	G	7: 140,535,677 (GRCm39)	V51A	possibly damaging	Het
Il16	C	T	7: 83,295,708 (GRCm39)	E456K	probably damaging	Het
Lmod2	A	T	6: 24,603,615 (GRCm39)	I197F	possibly damaging	Het
Lrrc14	T	C	15: 76,597,983 (GRCm39)	S238P	possibly damaging	Het
Map3k1	A	G	13: 111,885,426 (GRCm39)		probably benign	Het
Phf11d	C	A	14: 59,586,797 (GRCm39)	R210S	probably benign	Het
Pigu	T	C	2: 155,177,291 (GRCm39)	N103S	probably damaging	Het
Rgsl1	A	G	1: 153,701,587 (GRCm39)	V289A	probably benign	Het
Rp1l1	T	A	14: 64,265,864 (GRCm39)	S483R	probably damaging	Het
Ryr2	A	T	13: 11,739,273 (GRCm39)		probably benign	Het
Sema3c	T	G	5: 17,899,637 (GRCm39)		probably benign	Het
Septin4	G	T	11: 87,458,184 (GRCm39)		probably null	Het
Sfmbt2	A	G	2: 10,409,385 (GRCm39)	Y110C	probably damaging	Het
Slc12a3	T	C	8: 95,061,933 (GRCm39)	V328A	possibly damaging	Het
Smarca2	G	A	19: 26,601,375 (GRCm39)	G31D	probably damaging	Het
Spmip1	G	A	6: 29,471,792 (GRCm39)	M89I	probably damaging	Het
Tenm2	T	G	11: 35,914,157 (GRCm39)	E2460A	probably benign	Het
Trim58	T	A	11: 58,541,993 (GRCm39)	W318R	probably benign	Het
Ube3a	C	T	7: 58,935,870 (GRCm39)	Q585*	probably null	Het
Vmn2r17	T	C	5: 109,582,256 (GRCm39)		probably null	Het
Zfp647	A	G	15: 76,796,177 (GRCm39)	V161A	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
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
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

Posted On

2016-08-02