Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Cep192'

73291

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 #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

67933177-68018241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67991974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1951 (P1951S)

Ref Sequence

ENSEMBL: ENSMUSP00000025425 (fasta)

Gene Model

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

AlphaFold

E9Q4Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000025425
AA Change: P1951S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025425
Gene: ENSMUSG00000024542
AA Change: P1951S

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: ENSMUST00000223715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224921

Predicted Effect

unknown
Transcript: ENSMUST00000225303
AA Change: P890S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225677

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Adss1	T	C	12: 112,601,170 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Endod1	A	T	9: 14,268,535 (GRCm39)	S317T	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fam222a	T	A	5: 114,732,514 (GRCm39)	L23Q	possibly damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Pramel7	T	A	2: 87,321,717 (GRCm39)	D106V	possibly damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Timp4	T	C	6: 115,223,269 (GRCm39)	Y218C	possibly damaging	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	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
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
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

2013-10-07