Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03179:Cep290'

412139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

Kiaa, Nphp6, b2b1752Clo, b2b1454Clo

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL03179

Quality Score

Status

Chromosome

Chromosomal Location

100323410-100409527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100403950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2317 (I2317N)

Ref Sequence

ENSEMBL: ENSMUSP00000151712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000164751] [ENSMUST00000219765] [ENSMUST00000220346]

AlphaFold

Q6A078

Predicted Effect

probably benign
Transcript: ENSMUST00000054471

Predicted Effect

probably benign
Transcript: ENSMUST00000164751
AA Change: I2324N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: I2324N

Domain	Start	End	E-Value	Type
coiled coil region	59	298	N/A	INTRINSIC
coiled coil region	319	566	N/A	INTRINSIC
coiled coil region	598	662	N/A	INTRINSIC
coiled coil region	697	754	N/A	INTRINSIC
coiled coil region	780	875	N/A	INTRINSIC
internal_repeat_2	884	894	1.1e-5	PROSPERO
coiled coil region	986	1028	N/A	INTRINSIC
internal_repeat_2	1057	1067	1.1e-5	PROSPERO
coiled coil region	1071	1109	N/A	INTRINSIC
low complexity region	1140	1156	N/A	INTRINSIC
internal_repeat_1	1176	1206	8.72e-8	PROSPERO
coiled coil region	1221	1250	N/A	INTRINSIC
Pfam:CEP209_CC5	1290	1417	3.8e-55	PFAM
low complexity region	1476	1493	N/A	INTRINSIC
internal_repeat_1	1498	1525	8.72e-8	PROSPERO
coiled coil region	1535	1595	N/A	INTRINSIC
coiled coil region	1624	1716	N/A	INTRINSIC
coiled coil region	1776	2328	N/A	INTRINSIC
low complexity region	2333	2347	N/A	INTRINSIC
coiled coil region	2377	2453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219643

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219765
AA Change: I2317N

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219889

Predicted Effect

probably benign
Transcript: ENSMUST00000220346
AA Change: I2324N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,745,180 (GRCm39)	H1736L	probably benign	Het
App	A	G	16: 84,879,735 (GRCm39)	C133R	probably damaging	Het
Atxn7l2	G	T	3: 108,110,963 (GRCm39)	C524*	probably null	Het
Cckbr	T	C	7: 105,084,130 (GRCm39)	V288A	probably benign	Het
Ccr1l1	T	C	9: 123,777,787 (GRCm39)	Y220C	probably damaging	Het
Cdc42se2	A	T	11: 54,614,417 (GRCm39)	F47I	possibly damaging	Het
Chrnd	T	C	1: 87,123,502 (GRCm39)	S347P	probably damaging	Het
Clcn5	T	A	X: 7,029,565 (GRCm39)		probably null	Het
D6Wsu163e	A	G	6: 126,927,074 (GRCm39)	D187G	probably damaging	Het
Dnajc13	T	A	9: 104,044,634 (GRCm39)	I1852F	probably benign	Het
Ecpas	C	T	4: 58,832,777 (GRCm39)	G861D	probably damaging	Het
Fcnb	A	G	2: 27,966,646 (GRCm39)	S296P	possibly damaging	Het
Fut2	C	T	7: 45,300,073 (GRCm39)	R233K	probably benign	Het
Gm21985	G	A	2: 112,188,900 (GRCm39)	V1078I	possibly damaging	Het
Gpc3	A	T	X: 51,486,090 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,280,044 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,781 (GRCm39)	E370G	probably damaging	Het
Myo5c	A	T	9: 75,163,148 (GRCm39)	I326F	possibly damaging	Het
Neb	A	T	2: 52,066,653 (GRCm39)	L5906Q	probably damaging	Het
Nrdc	A	T	4: 108,903,888 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,381,938 (GRCm39)	N17S	possibly damaging	Het
Or51f2	T	C	7: 102,527,279 (GRCm39)		probably benign	Het
Or6s1	T	C	14: 51,308,467 (GRCm39)	I128V	probably benign	Het
P2rx7	A	G	5: 122,811,763 (GRCm39)	Y358C	possibly damaging	Het
Pex10	A	C	4: 155,152,354 (GRCm39)	I61L	probably benign	Het
Phax	T	C	18: 56,713,364 (GRCm39)	F248L	probably damaging	Het
Phtf2	A	T	5: 20,987,397 (GRCm39)	D366E	probably damaging	Het
Pnpo	A	G	11: 96,830,085 (GRCm39)	Y205H	possibly damaging	Het
Pparg	T	A	6: 115,416,833 (GRCm39)	W9R	probably damaging	Het
Ppp4r3c2	G	A	X: 88,796,434 (GRCm39)	G89S	possibly damaging	Het
Prex1	C	T	2: 166,427,114 (GRCm39)	S867N	probably benign	Het
Pyroxd2	T	A	19: 42,736,001 (GRCm39)	N59I	possibly damaging	Het
Rnf135	T	A	11: 80,084,837 (GRCm39)	S203R	possibly damaging	Het
Sall1	T	A	8: 89,758,289 (GRCm39)	N605I	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Slc25a14	T	C	X: 47,726,317 (GRCm39)	S152P	probably benign	Het
Strip1	A	T	3: 107,527,571 (GRCm39)	F436I	probably damaging	Het
Tgfa	T	C	6: 86,248,403 (GRCm39)	L135P	probably benign	Het
Tgif1	T	C	17: 71,151,942 (GRCm39)	Q170R	possibly damaging	Het
Tmc2	G	A	2: 130,071,107 (GRCm39)	E279K	probably damaging	Het
Tnks	G	T	8: 35,315,824 (GRCm39)	N987K	probably benign	Het
Traf3ip3	T	C	1: 192,876,676 (GRCm39)	E209G	probably damaging	Het
Vmn2r73	T	A	7: 85,519,468 (GRCm39)	I497L	probably benign	Het
Wrn	C	A	8: 33,800,734 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,720,086 (GRCm39)	I193V	possibly damaging	Het

Other mutations in Cep290

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cep290	APN	10	100,344,586 (GRCm39)	missense	probably benign	0.00
IGL00499:Cep290	APN	10	100,379,189 (GRCm39)	missense	probably damaging	1.00
IGL00547:Cep290	APN	10	100,346,570 (GRCm39)	missense	probably damaging	0.99
IGL00573:Cep290	APN	10	100,376,223 (GRCm39)	missense	probably damaging	1.00
IGL00646:Cep290	APN	10	100,337,016 (GRCm39)	missense	probably benign	0.15
IGL00755:Cep290	APN	10	100,366,966 (GRCm39)	missense	probably damaging	1.00
IGL00835:Cep290	APN	10	100,399,242 (GRCm39)	nonsense	probably null
IGL00846:Cep290	APN	10	100,376,195 (GRCm39)	splice site	probably benign
IGL00985:Cep290	APN	10	100,403,023 (GRCm39)	splice site	probably benign
IGL01687:Cep290	APN	10	100,336,067 (GRCm39)	missense	probably damaging	1.00
IGL01782:Cep290	APN	10	100,380,987 (GRCm39)	nonsense	probably null
IGL02010:Cep290	APN	10	100,397,207 (GRCm39)	missense	probably benign	0.00
IGL02010:Cep290	APN	10	100,344,569 (GRCm39)	missense	probably benign	0.39
IGL02036:Cep290	APN	10	100,393,962 (GRCm39)	nonsense	probably null
IGL02039:Cep290	APN	10	100,350,464 (GRCm39)	critical splice donor site	probably null
IGL02532:Cep290	APN	10	100,380,927 (GRCm39)	missense	probably benign	0.04
IGL02950:Cep290	APN	10	100,376,191 (GRCm39)	splice site	probably benign
IGL03105:Cep290	APN	10	100,387,686 (GRCm39)	missense	possibly damaging	0.66
IGL03271:Cep290	APN	10	100,373,663 (GRCm39)	missense	probably benign	0.09
IGL03401:Cep290	APN	10	100,336,127 (GRCm39)	missense	probably benign	0.27
PIT4687001:Cep290	UTSW	10	100,373,453 (GRCm39)	missense	probably benign	0.28
R0025:Cep290	UTSW	10	100,373,693 (GRCm39)	missense	probably damaging	1.00
R0127:Cep290	UTSW	10	100,372,787 (GRCm39)	splice site	probably benign
R0254:Cep290	UTSW	10	100,350,436 (GRCm39)	missense	probably benign	0.31
R0295:Cep290	UTSW	10	100,373,683 (GRCm39)	missense	probably damaging	0.99
R0371:Cep290	UTSW	10	100,354,426 (GRCm39)	splice site	probably benign
R0390:Cep290	UTSW	10	100,344,620 (GRCm39)	missense	probably benign	0.09
R0399:Cep290	UTSW	10	100,390,262 (GRCm39)	splice site	probably benign
R0413:Cep290	UTSW	10	100,359,176 (GRCm39)	nonsense	probably null
R0427:Cep290	UTSW	10	100,352,041 (GRCm39)	missense	probably benign	0.01
R0472:Cep290	UTSW	10	100,387,317 (GRCm39)	missense	probably benign	0.19
R0485:Cep290	UTSW	10	100,385,206 (GRCm39)	missense	possibly damaging	0.94
R0635:Cep290	UTSW	10	100,328,538 (GRCm39)	missense	probably damaging	1.00
R0675:Cep290	UTSW	10	100,404,675 (GRCm39)	critical splice acceptor site	probably null
R0972:Cep290	UTSW	10	100,354,624 (GRCm39)	missense	probably benign	0.08
R1238:Cep290	UTSW	10	100,353,725 (GRCm39)	missense	probably damaging	1.00
R1297:Cep290	UTSW	10	100,374,962 (GRCm39)	splice site	probably benign
R1368:Cep290	UTSW	10	100,330,828 (GRCm39)	splice site	probably benign
R1394:Cep290	UTSW	10	100,373,391 (GRCm39)	missense	possibly damaging	0.66
R1437:Cep290	UTSW	10	100,407,963 (GRCm39)	missense	probably benign	0.00
R1493:Cep290	UTSW	10	100,398,043 (GRCm39)	missense	probably benign	0.21
R1496:Cep290	UTSW	10	100,374,828 (GRCm39)	missense	probably damaging	1.00
R1539:Cep290	UTSW	10	100,332,690 (GRCm39)	missense	probably benign	0.06
R1598:Cep290	UTSW	10	100,385,191 (GRCm39)	missense	probably damaging	1.00
R1616:Cep290	UTSW	10	100,404,698 (GRCm39)	missense	probably benign
R1712:Cep290	UTSW	10	100,390,361 (GRCm39)	missense	probably benign	0.02
R1753:Cep290	UTSW	10	100,349,843 (GRCm39)	missense	probably benign
R1773:Cep290	UTSW	10	100,346,435 (GRCm39)	missense	probably benign
R1775:Cep290	UTSW	10	100,332,672 (GRCm39)	missense	probably damaging	0.98
R1799:Cep290	UTSW	10	100,352,058 (GRCm39)	missense	probably benign	0.00
R1937:Cep290	UTSW	10	100,333,815 (GRCm39)	missense	possibly damaging	0.71
R1991:Cep290	UTSW	10	100,367,046 (GRCm39)	missense	possibly damaging	0.80
R2031:Cep290	UTSW	10	100,348,262 (GRCm39)	critical splice donor site	probably null
R2164:Cep290	UTSW	10	100,354,657 (GRCm39)	missense	probably damaging	0.96
R2393:Cep290	UTSW	10	100,397,100 (GRCm39)	critical splice acceptor site	probably null
R2403:Cep290	UTSW	10	100,373,299 (GRCm39)	missense	probably benign	0.19
R3612:Cep290	UTSW	10	100,377,443 (GRCm39)	nonsense	probably null
R3800:Cep290	UTSW	10	100,408,803 (GRCm39)	missense	probably damaging	0.97
R4005:Cep290	UTSW	10	100,374,870 (GRCm39)	missense	probably damaging	1.00
R4039:Cep290	UTSW	10	100,348,263 (GRCm39)	critical splice donor site	probably null
R4259:Cep290	UTSW	10	100,350,354 (GRCm39)	missense	probably damaging	1.00
R4260:Cep290	UTSW	10	100,350,354 (GRCm39)	missense	probably damaging	1.00
R4319:Cep290	UTSW	10	100,374,909 (GRCm39)	missense	probably benign	0.09
R4329:Cep290	UTSW	10	100,373,530 (GRCm39)	missense	probably damaging	0.98
R4573:Cep290	UTSW	10	100,354,712 (GRCm39)	missense	probably benign
R4614:Cep290	UTSW	10	100,395,549 (GRCm39)	missense	possibly damaging	0.93
R4614:Cep290	UTSW	10	100,344,602 (GRCm39)	missense	probably benign
R4708:Cep290	UTSW	10	100,359,126 (GRCm39)	missense	probably benign	0.02
R4727:Cep290	UTSW	10	100,399,132 (GRCm39)	missense	probably benign	0.05
R4825:Cep290	UTSW	10	100,324,210 (GRCm39)	missense	probably damaging	0.96
R4839:Cep290	UTSW	10	100,344,648 (GRCm39)	missense	probably damaging	0.99
R4858:Cep290	UTSW	10	100,330,773 (GRCm39)	missense	probably benign	0.31
R4871:Cep290	UTSW	10	100,384,776 (GRCm39)	missense	probably benign	0.22
R5094:Cep290	UTSW	10	100,402,892 (GRCm39)	missense	probably damaging	0.97
R5103:Cep290	UTSW	10	100,374,882 (GRCm39)	missense	probably damaging	1.00
R5499:Cep290	UTSW	10	100,373,515 (GRCm39)	missense	probably damaging	0.99
R5505:Cep290	UTSW	10	100,335,048 (GRCm39)	critical splice donor site	probably null
R5615:Cep290	UTSW	10	100,367,012 (GRCm39)	missense	probably damaging	1.00
R5815:Cep290	UTSW	10	100,393,970 (GRCm39)	missense	possibly damaging	0.80
R5883:Cep290	UTSW	10	100,359,261 (GRCm39)	missense	probably benign	0.44
R5889:Cep290	UTSW	10	100,334,936 (GRCm39)	missense	possibly damaging	0.95
R5928:Cep290	UTSW	10	100,387,692 (GRCm39)	missense	probably damaging	0.99
R5992:Cep290	UTSW	10	100,379,183 (GRCm39)	missense	possibly damaging	0.73
R6000:Cep290	UTSW	10	100,377,649 (GRCm39)	missense	probably damaging	1.00
R6213:Cep290	UTSW	10	100,359,222 (GRCm39)	missense	probably benign	0.06
R6274:Cep290	UTSW	10	100,366,069 (GRCm39)	missense	probably damaging	1.00
R6285:Cep290	UTSW	10	100,359,191 (GRCm39)	missense	probably benign	0.17
R6306:Cep290	UTSW	10	100,367,028 (GRCm39)	missense	possibly damaging	0.89
R6593:Cep290	UTSW	10	100,344,638 (GRCm39)	missense	probably benign	0.01
R6649:Cep290	UTSW	10	100,354,393 (GRCm39)	missense	probably benign	0.28
R6692:Cep290	UTSW	10	100,405,006 (GRCm39)	splice site	probably null
R6788:Cep290	UTSW	10	100,324,490 (GRCm39)	missense	probably damaging	1.00
R6847:Cep290	UTSW	10	100,399,281 (GRCm39)	missense	probably damaging	1.00
R6947:Cep290	UTSW	10	100,365,918 (GRCm39)	missense	probably damaging	1.00
R7035:Cep290	UTSW	10	100,334,933 (GRCm39)	missense	probably benign	0.07
R7073:Cep290	UTSW	10	100,374,865 (GRCm39)	missense	possibly damaging	0.90
R7114:Cep290	UTSW	10	100,379,220 (GRCm39)	missense	probably damaging	0.98
R7256:Cep290	UTSW	10	100,382,360 (GRCm39)	missense	probably damaging	1.00
R7258:Cep290	UTSW	10	100,334,970 (GRCm39)	missense	probably benign	0.01
R7311:Cep290	UTSW	10	100,373,580 (GRCm39)	missense	probably damaging	0.98
R7505:Cep290	UTSW	10	100,352,127 (GRCm39)	missense	probably benign	0.01
R7615:Cep290	UTSW	10	100,328,543 (GRCm39)	missense	probably benign	0.03
R7643:Cep290	UTSW	10	100,373,415 (GRCm39)	missense	probably benign
R7662:Cep290	UTSW	10	100,373,665 (GRCm39)	missense	probably benign	0.21
R7663:Cep290	UTSW	10	100,390,398 (GRCm39)	critical splice donor site	probably null
R7685:Cep290	UTSW	10	100,375,919 (GRCm39)	missense	probably benign	0.19
R7699:Cep290	UTSW	10	100,376,231 (GRCm39)	missense	probably benign	0.33
R7717:Cep290	UTSW	10	100,328,543 (GRCm39)	missense	probably benign	0.03
R7747:Cep290	UTSW	10	100,394,038 (GRCm39)	nonsense	probably null
R7757:Cep290	UTSW	10	100,399,296 (GRCm39)	missense	probably benign
R7843:Cep290	UTSW	10	100,352,050 (GRCm39)	missense	possibly damaging	0.49
R7905:Cep290	UTSW	10	100,390,352 (GRCm39)	missense	probably benign
R8078:Cep290	UTSW	10	100,408,749 (GRCm39)	missense	probably benign	0.04
R8081:Cep290	UTSW	10	100,394,038 (GRCm39)	nonsense	probably null
R8094:Cep290	UTSW	10	100,380,793 (GRCm39)	missense	possibly damaging	0.95
R8266:Cep290	UTSW	10	100,395,533 (GRCm39)	missense	probably benign	0.08
R8305:Cep290	UTSW	10	100,380,796 (GRCm39)	missense	probably benign	0.09
R8325:Cep290	UTSW	10	100,353,670 (GRCm39)	missense	probably benign	0.03
R8372:Cep290	UTSW	10	100,385,203 (GRCm39)	missense	probably benign	0.00
R8443:Cep290	UTSW	10	100,331,706 (GRCm39)	missense	possibly damaging	0.80
R8497:Cep290	UTSW	10	100,387,320 (GRCm39)	missense	probably damaging	1.00
R8778:Cep290	UTSW	10	100,350,374 (GRCm39)	nonsense	probably null
R8975:Cep290	UTSW	10	100,349,782 (GRCm39)	missense	possibly damaging	0.54
R9146:Cep290	UTSW	10	100,377,665 (GRCm39)	missense	probably benign	0.44
R9264:Cep290	UTSW	10	100,333,878 (GRCm39)	missense	possibly damaging	0.86
R9374:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9448:Cep290	UTSW	10	100,395,546 (GRCm39)	missense	probably benign	0.32
R9499:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9507:Cep290	UTSW	10	100,330,785 (GRCm39)	missense	possibly damaging	0.81
R9539:Cep290	UTSW	10	100,404,713 (GRCm39)	missense	probably damaging	1.00
R9547:Cep290	UTSW	10	100,380,841 (GRCm39)	missense	probably benign	0.00
R9551:Cep290	UTSW	10	100,372,729 (GRCm39)	missense	probably damaging	0.98
R9657:Cep290	UTSW	10	100,351,003 (GRCm39)	missense	possibly damaging	0.93
R9731:Cep290	UTSW	10	100,346,404 (GRCm39)	missense	probably damaging	0.98
R9756:Cep290	UTSW	10	100,352,034 (GRCm39)	missense	probably damaging	0.97
R9777:Cep290	UTSW	10	100,354,529 (GRCm39)	missense	probably benign	0.01
Z1176:Cep290	UTSW	10	100,385,236 (GRCm39)	critical splice donor site	probably benign
Z1177:Cep290	UTSW	10	100,374,859 (GRCm39)	missense	possibly damaging	0.89
Z1177:Cep290	UTSW	10	100,333,806 (GRCm39)	missense	probably benign

Posted On

2016-08-02