Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03139:Cep192'

410656

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 #

IGL03139

Quality Score

Status

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 67961547 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: ENSMUST00000225077

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,391,067 (GRCm39)	F97L	probably benign	Het
Acad10	T	C	5: 121,764,145 (GRCm39)	Y928C	probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Atxn7	T	C	14: 14,052,994 (GRCm38)	V144A	probably damaging	Het
Baiap2l2	T	A	15: 79,155,753 (GRCm39)	N107I	probably damaging	Het
Cd180	A	G	13: 102,842,924 (GRCm39)	K657E	probably damaging	Het
Cma2	A	G	14: 56,211,256 (GRCm39)	I183V	probably damaging	Het
Col18a1	C	A	10: 76,949,177 (GRCm39)	A112S	possibly damaging	Het
Ctu2	A	G	8: 123,205,446 (GRCm39)	D100G	possibly damaging	Het
Defb29	T	C	2: 152,380,812 (GRCm39)	K66E	probably damaging	Het
Dis3l	T	A	9: 64,219,232 (GRCm39)	D566V	probably damaging	Het
Dtx1	C	A	5: 120,832,955 (GRCm39)	R161L	probably damaging	Het
Efcab6	T	A	15: 83,836,422 (GRCm39)	L436F	probably benign	Het
Fip1l1	A	G	5: 74,731,776 (GRCm39)	I254V	possibly damaging	Het
Gid8	C	A	2: 180,356,501 (GRCm39)	A46E	probably damaging	Het
Grm8	G	T	6: 27,618,649 (GRCm39)	Q398K	probably damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Iigp1c	T	C	18: 60,379,221 (GRCm39)	V252A	probably benign	Het
Kcnt1	T	C	2: 25,784,480 (GRCm39)		probably benign	Het
Lrrc8a	T	C	2: 30,145,683 (GRCm39)	S166P	probably damaging	Het
Map2k6	A	T	11: 110,387,299 (GRCm39)		probably benign	Het
Mmab	A	G	5: 114,571,405 (GRCm39)	L157P	probably damaging	Het
Mmrn1	A	T	6: 60,953,324 (GRCm39)	E535V	probably damaging	Het
Mup4	T	C	4: 59,958,482 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,997,221 (GRCm39)	S820P	probably benign	Het
Or52b4	A	G	7: 102,184,517 (GRCm39)	K188E	possibly damaging	Het
Pik3cg	T	C	12: 32,242,222 (GRCm39)	I963V	probably damaging	Het
Plcg1	T	C	2: 160,590,049 (GRCm39)		probably null	Het
Plscr1	T	C	9: 92,148,438 (GRCm39)		probably benign	Het
Prss36	C	T	7: 127,532,783 (GRCm39)	G202E	probably damaging	Het
Psen2	A	T	1: 180,068,350 (GRCm39)	V101E	probably damaging	Het
Saxo1	T	C	4: 86,405,999 (GRCm39)	M67V	possibly damaging	Het
Sfrp4	G	A	13: 19,807,728 (GRCm39)	M42I	probably damaging	Het
Strn3	C	A	12: 51,699,633 (GRCm39)		probably benign	Het
Tgfb1i1	C	A	7: 127,848,476 (GRCm39)	P197Q	possibly damaging	Het
Thsd4	A	G	9: 59,904,456 (GRCm39)	V580A	probably benign	Het
Tjp1	C	A	7: 64,990,182 (GRCm39)		probably benign	Het
Tprn	C	T	2: 25,154,066 (GRCm39)	A456V	probably benign	Het
Ttc34	T	C	4: 154,945,727 (GRCm39)	Y763H	probably benign	Het
Ttn	T	C	2: 76,601,507 (GRCm39)	T18686A	probably benign	Het
Uggt2	T	A	14: 119,332,722 (GRCm39)	T71S	probably benign	Het
Vmn2r120	T	A	17: 57,831,742 (GRCm39)	Y349F	probably benign	Het
Zbtb41	A	G	1: 139,351,576 (GRCm39)	T230A	probably benign	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
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

2016-08-02