Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03105:Cep290'

418913

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: 0.953) question?

Stock #

IGL03105

Quality Score

Status

Chromosome

Chromosomal Location

100323410-100409527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100387686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1956 (K1956E)

Ref Sequence

ENSEMBL: ENSMUSP00000151388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164751] [ENSMUST00000219408] [ENSMUST00000219765] [ENSMUST00000220346]

AlphaFold

Q6A078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164751
AA Change: K1956E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: K1956E

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

probably benign
Transcript: ENSMUST00000219408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219643

Predicted Effect

probably benign
Transcript: ENSMUST00000219765
AA Change: K1949E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220346
AA Change: K1956E

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,155 (GRCm39)	I129V	probably benign	Het
Ankrd35	A	G	3: 96,591,373 (GRCm39)	H553R	probably benign	Het
Brca2	A	G	5: 150,483,950 (GRCm39)	K2923R	probably benign	Het
Cadm3	A	T	1: 173,172,583 (GRCm39)	L174M	probably damaging	Het
Car10	T	C	11: 92,991,101 (GRCm39)	V17A	probably benign	Het
Cfhr1	T	A	1: 139,475,565 (GRCm39)		probably benign	Het
Crim1	A	T	17: 78,623,179 (GRCm39)		probably benign	Het
Dedd	G	A	1: 171,168,486 (GRCm39)	R224H	probably damaging	Het
F7	A	T	8: 13,084,001 (GRCm39)	I229L	probably null	Het
Igkv17-121	A	T	6: 68,014,284 (GRCm39)	Q112L	probably damaging	Het
Kcnk13	G	A	12: 100,027,369 (GRCm39)	R148Q	probably damaging	Het
Klk13	T	C	7: 43,370,904 (GRCm39)	L51P	probably benign	Het
Ldb2	A	G	5: 44,956,715 (GRCm39)	S41P	possibly damaging	Het
Magi2	A	G	5: 20,748,616 (GRCm39)	D767G	probably damaging	Het
Mical3	T	C	6: 121,019,199 (GRCm39)	T8A	probably benign	Het
Mkln1	G	T	6: 31,435,994 (GRCm39)	E318*	probably null	Het
Mx1	C	T	16: 97,257,554 (GRCm39)	V68I	possibly damaging	Het
Mylk2	T	C	2: 152,759,279 (GRCm39)	V350A	possibly damaging	Het
Nav2	T	A	7: 49,114,627 (GRCm39)	S870R	probably damaging	Het
Onecut2	A	T	18: 64,474,579 (GRCm39)	K358*	probably null	Het
Or51b4	A	G	7: 103,531,339 (GRCm39)	I37T	possibly damaging	Het
Or52n2c	A	T	7: 104,574,971 (GRCm39)		probably benign	Het
Or7a40	T	C	16: 16,491,390 (GRCm39)	T152A	probably benign	Het
Or7g16	T	C	9: 18,726,685 (GRCm39)	R302G	probably benign	Het
Orai3	A	G	7: 127,372,725 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,615,569 (GRCm39)	N859S	probably benign	Het
Saxo4	A	G	19: 10,454,384 (GRCm39)		probably benign	Het
Sec23b	C	T	2: 144,423,940 (GRCm39)	R530W	probably damaging	Het
Slc25a35	T	C	11: 68,859,496 (GRCm39)	F3S	probably damaging	Het
Slc7a11	A	T	3: 50,326,788 (GRCm39)	I491K	possibly damaging	Het
Srrt	A	T	5: 137,298,106 (GRCm39)	N317K	possibly damaging	Het
Sspo	T	C	6: 48,450,592 (GRCm39)		probably benign	Het
Taf2	A	C	15: 54,909,195 (GRCm39)	D683E	probably benign	Het
Tasor	T	A	14: 27,164,509 (GRCm39)	C272S	probably damaging	Het
Tcerg1l	G	T	7: 137,850,173 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,586,955 (GRCm39)	V1578F	probably benign	Het
Tmem43	G	A	6: 91,457,682 (GRCm39)	G188D	probably damaging	Het
Tnfrsf8	T	C	4: 145,025,354 (GRCm39)	Y73C	probably damaging	Het
Ttc21a	A	G	9: 119,771,642 (GRCm39)	Y147C	probably benign	Het
Ttn	T	C	2: 76,608,394 (GRCm39)	D17843G	probably damaging	Het
Ttn	T	A	2: 76,642,521 (GRCm39)	D11592V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,329 (GRCm39)	I842N	probably damaging	Het
Unc80	A	T	1: 66,511,258 (GRCm39)	T89S	probably damaging	Het
Usp28	T	C	9: 48,950,355 (GRCm39)	M928T	probably damaging	Het
Usp43	A	G	11: 67,770,802 (GRCm39)	S611P	possibly damaging	Het
Utp20	A	G	10: 88,626,958 (GRCm39)	V1000A	probably benign	Het
Zfp263	T	C	16: 3,566,824 (GRCm39)	C380R	probably damaging	Het
Zfyve1	A	C	12: 83,605,413 (GRCm39)	C14G	probably 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
IGL03179:Cep290	APN	10	100,403,950 (GRCm39)	missense	possibly damaging	0.60
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