Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Cep290'

204344

Institutional Source

Beutler Lab

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

b2b1454Clo, Nphp6, b2b1752Clo

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100487558-100574840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100496810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 257 (V257E)

Ref Sequence

ENSEMBL: ENSMUSP00000151712 (fasta)

Gene Model

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

AlphaFold

Q6A078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164751
AA Change: V264E

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: V264E

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

probably damaging
Transcript: ENSMUST00000219765
AA Change: V257E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220231

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220346
AA Change: V264E

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2087

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142 (GRCm38)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318 (GRCm38)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558 (GRCm38)		probably null	Het
4933427I04Rik	A	G	4: 123,860,493 (GRCm38)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419 (GRCm38)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422 (GRCm38)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900 (GRCm38)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547 (GRCm38)	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081 (GRCm38)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743 (GRCm38)	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589 (GRCm38)	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286 (GRCm38)	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432 (GRCm38)	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659 (GRCm38)	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304 (GRCm38)		probably benign	Het
Cntrob	T	C	11: 69,320,867 (GRCm38)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336 (GRCm38)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739 (GRCm38)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437 (GRCm38)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367 (GRCm38)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704 (GRCm38)		probably null	Het
Evpl	T	C	11: 116,223,660 (GRCm38)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660 (GRCm38)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725 (GRCm38)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018 (GRCm38)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558 (GRCm38)	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338 (GRCm38)	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191 (GRCm38)		probably benign	Het
Hgfac	T	C	5: 35,042,850 (GRCm38)		probably benign	Het
Hspg2	C	T	4: 137,520,156 (GRCm38)	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355 (GRCm38)	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416 (GRCm38)	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043 (GRCm38)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644 (GRCm38)	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341 (GRCm38)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560 (GRCm38)	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533 (GRCm38)	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941 (GRCm38)	P23L	unknown	Het
Lct	A	G	1: 128,300,301 (GRCm38)	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074 (GRCm38)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962 (GRCm38)	V187A	probably benign	Het
Net1	A	G	13: 3,887,642 (GRCm38)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437 (GRCm38)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821 (GRCm38)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041 (GRCm38)	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937 (GRCm38)	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760 (GRCm38)	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868 (GRCm38)	M191L	probably benign	Het
Olfr1447	C	A	19: 12,901,235 (GRCm38)	V182F	probably benign	Het
Olfr215	T	C	6: 116,582,964 (GRCm38)		probably benign	Het
Olfr657	G	A	7: 104,636,159 (GRCm38)	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166 (GRCm38)	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460 (GRCm38)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515 (GRCm38)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348 (GRCm38)		probably null	Het
Rexo5	T	C	7: 119,845,411 (GRCm38)	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278 (GRCm38)	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817 (GRCm38)	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244 (GRCm38)	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547 (GRCm38)	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342 (GRCm38)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955 (GRCm38)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517 (GRCm38)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242 (GRCm38)		probably null	Het
Sema5b	A	G	16: 35,660,324 (GRCm38)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647 (GRCm38)	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231 (GRCm38)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107 (GRCm38)		probably null	Het
Slc9a8	T	C	2: 167,457,358 (GRCm38)	S217P	probably benign	Het
Smc6	A	G	12: 11,309,269 (GRCm38)	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032 (GRCm38)	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600 (GRCm38)	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612 (GRCm38)	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085 (GRCm38)	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218 (GRCm38)	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722 (GRCm38)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532 (GRCm38)	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412 (GRCm38)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253 (GRCm38)	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456 (GRCm38)		probably benign	Het
Trim15	T	A	17: 36,865,169 (GRCm38)	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811 (GRCm38)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214 (GRCm38)	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046 (GRCm38)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm38)	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808 (GRCm38)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170 (GRCm38)	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447 (GRCm38)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340 (GRCm38)		probably benign	Het
Xpo1	A	G	11: 23,271,193 (GRCm38)	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672 (GRCm38)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606 (GRCm38)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704 (GRCm38)	C83F	probably damaging	Het

Other mutations in Cep290

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cep290	APN	10	100,508,724 (GRCm38)	missense	probably benign	0.00
IGL00499:Cep290	APN	10	100,543,327 (GRCm38)	missense	probably damaging	1.00
IGL00547:Cep290	APN	10	100,510,708 (GRCm38)	missense	probably damaging	0.99
IGL00573:Cep290	APN	10	100,540,361 (GRCm38)	missense	probably damaging	1.00
IGL00646:Cep290	APN	10	100,501,154 (GRCm38)	missense	probably benign	0.15
IGL00755:Cep290	APN	10	100,531,104 (GRCm38)	missense	probably damaging	1.00
IGL00835:Cep290	APN	10	100,563,380 (GRCm38)	nonsense	probably null
IGL00846:Cep290	APN	10	100,540,333 (GRCm38)	splice site	probably benign
IGL00985:Cep290	APN	10	100,567,161 (GRCm38)	splice site	probably benign
IGL01687:Cep290	APN	10	100,500,205 (GRCm38)	missense	probably damaging	1.00
IGL01782:Cep290	APN	10	100,545,125 (GRCm38)	nonsense	probably null
IGL02010:Cep290	APN	10	100,561,345 (GRCm38)	missense	probably benign	0.00
IGL02010:Cep290	APN	10	100,508,707 (GRCm38)	missense	probably benign	0.39
IGL02036:Cep290	APN	10	100,558,100 (GRCm38)	nonsense	probably null
IGL02039:Cep290	APN	10	100,514,602 (GRCm38)	critical splice donor site	probably null
IGL02532:Cep290	APN	10	100,545,065 (GRCm38)	missense	probably benign	0.04
IGL02950:Cep290	APN	10	100,540,329 (GRCm38)	splice site	probably benign
IGL03105:Cep290	APN	10	100,551,824 (GRCm38)	missense	possibly damaging	0.66
IGL03179:Cep290	APN	10	100,568,088 (GRCm38)	missense	possibly damaging	0.60
IGL03271:Cep290	APN	10	100,537,801 (GRCm38)	missense	probably benign	0.09
IGL03401:Cep290	APN	10	100,500,265 (GRCm38)	missense	probably benign	0.27
PIT4687001:Cep290	UTSW	10	100,537,591 (GRCm38)	missense	probably benign	0.28
R0025:Cep290	UTSW	10	100,537,831 (GRCm38)	missense	probably damaging	1.00
R0127:Cep290	UTSW	10	100,536,925 (GRCm38)	splice site	probably benign
R0254:Cep290	UTSW	10	100,514,574 (GRCm38)	missense	probably benign	0.31
R0295:Cep290	UTSW	10	100,537,821 (GRCm38)	missense	probably damaging	0.99
R0371:Cep290	UTSW	10	100,518,564 (GRCm38)	splice site	probably benign
R0390:Cep290	UTSW	10	100,508,758 (GRCm38)	missense	probably benign	0.09
R0399:Cep290	UTSW	10	100,554,400 (GRCm38)	splice site	probably benign
R0413:Cep290	UTSW	10	100,523,314 (GRCm38)	nonsense	probably null
R0427:Cep290	UTSW	10	100,516,179 (GRCm38)	missense	probably benign	0.01
R0472:Cep290	UTSW	10	100,551,455 (GRCm38)	missense	probably benign	0.19
R0485:Cep290	UTSW	10	100,549,344 (GRCm38)	missense	possibly damaging	0.94
R0635:Cep290	UTSW	10	100,492,676 (GRCm38)	missense	probably damaging	1.00
R0675:Cep290	UTSW	10	100,568,813 (GRCm38)	critical splice acceptor site	probably null
R0972:Cep290	UTSW	10	100,518,762 (GRCm38)	missense	probably benign	0.08
R1238:Cep290	UTSW	10	100,517,863 (GRCm38)	missense	probably damaging	1.00
R1297:Cep290	UTSW	10	100,539,100 (GRCm38)	splice site	probably benign
R1368:Cep290	UTSW	10	100,494,966 (GRCm38)	splice site	probably benign
R1394:Cep290	UTSW	10	100,537,529 (GRCm38)	missense	possibly damaging	0.66
R1437:Cep290	UTSW	10	100,572,101 (GRCm38)	missense	probably benign	0.00
R1493:Cep290	UTSW	10	100,562,181 (GRCm38)	missense	probably benign	0.21
R1496:Cep290	UTSW	10	100,538,966 (GRCm38)	missense	probably damaging	1.00
R1539:Cep290	UTSW	10	100,496,828 (GRCm38)	missense	probably benign	0.06
R1598:Cep290	UTSW	10	100,549,329 (GRCm38)	missense	probably damaging	1.00
R1616:Cep290	UTSW	10	100,568,836 (GRCm38)	missense	probably benign
R1712:Cep290	UTSW	10	100,554,499 (GRCm38)	missense	probably benign	0.02
R1753:Cep290	UTSW	10	100,513,981 (GRCm38)	missense	probably benign
R1773:Cep290	UTSW	10	100,510,573 (GRCm38)	missense	probably benign
R1799:Cep290	UTSW	10	100,516,196 (GRCm38)	missense	probably benign	0.00
R1937:Cep290	UTSW	10	100,497,953 (GRCm38)	missense	possibly damaging	0.71
R1991:Cep290	UTSW	10	100,531,184 (GRCm38)	missense	possibly damaging	0.80
R2031:Cep290	UTSW	10	100,512,400 (GRCm38)	critical splice donor site	probably null
R2164:Cep290	UTSW	10	100,518,795 (GRCm38)	missense	probably damaging	0.96
R2393:Cep290	UTSW	10	100,561,238 (GRCm38)	critical splice acceptor site	probably null
R2403:Cep290	UTSW	10	100,537,437 (GRCm38)	missense	probably benign	0.19
R3612:Cep290	UTSW	10	100,541,581 (GRCm38)	nonsense	probably null
R3800:Cep290	UTSW	10	100,572,941 (GRCm38)	missense	probably damaging	0.97
R4005:Cep290	UTSW	10	100,539,008 (GRCm38)	missense	probably damaging	1.00
R4039:Cep290	UTSW	10	100,512,401 (GRCm38)	critical splice donor site	probably null
R4259:Cep290	UTSW	10	100,514,492 (GRCm38)	missense	probably damaging	1.00
R4260:Cep290	UTSW	10	100,514,492 (GRCm38)	missense	probably damaging	1.00
R4319:Cep290	UTSW	10	100,539,047 (GRCm38)	missense	probably benign	0.09
R4329:Cep290	UTSW	10	100,537,668 (GRCm38)	missense	probably damaging	0.98
R4573:Cep290	UTSW	10	100,518,850 (GRCm38)	missense	probably benign
R4614:Cep290	UTSW	10	100,559,687 (GRCm38)	missense	possibly damaging	0.93
R4614:Cep290	UTSW	10	100,508,740 (GRCm38)	missense	probably benign
R4708:Cep290	UTSW	10	100,523,264 (GRCm38)	missense	probably benign	0.02
R4727:Cep290	UTSW	10	100,563,270 (GRCm38)	missense	probably benign	0.05
R4825:Cep290	UTSW	10	100,488,348 (GRCm38)	missense	probably damaging	0.96
R4839:Cep290	UTSW	10	100,508,786 (GRCm38)	missense	probably damaging	0.99
R4858:Cep290	UTSW	10	100,494,911 (GRCm38)	missense	probably benign	0.31
R4871:Cep290	UTSW	10	100,548,914 (GRCm38)	missense	probably benign	0.22
R5094:Cep290	UTSW	10	100,567,030 (GRCm38)	missense	probably damaging	0.97
R5103:Cep290	UTSW	10	100,539,020 (GRCm38)	missense	probably damaging	1.00
R5499:Cep290	UTSW	10	100,537,653 (GRCm38)	missense	probably damaging	0.99
R5505:Cep290	UTSW	10	100,499,186 (GRCm38)	critical splice donor site	probably null
R5615:Cep290	UTSW	10	100,531,150 (GRCm38)	missense	probably damaging	1.00
R5815:Cep290	UTSW	10	100,558,108 (GRCm38)	missense	possibly damaging	0.80
R5883:Cep290	UTSW	10	100,523,399 (GRCm38)	missense	probably benign	0.44
R5889:Cep290	UTSW	10	100,499,074 (GRCm38)	missense	possibly damaging	0.95
R5928:Cep290	UTSW	10	100,551,830 (GRCm38)	missense	probably damaging	0.99
R5992:Cep290	UTSW	10	100,543,321 (GRCm38)	missense	possibly damaging	0.73
R6000:Cep290	UTSW	10	100,541,787 (GRCm38)	missense	probably damaging	1.00
R6213:Cep290	UTSW	10	100,523,360 (GRCm38)	missense	probably benign	0.06
R6274:Cep290	UTSW	10	100,530,207 (GRCm38)	missense	probably damaging	1.00
R6285:Cep290	UTSW	10	100,523,329 (GRCm38)	missense	probably benign	0.17
R6306:Cep290	UTSW	10	100,531,166 (GRCm38)	missense	possibly damaging	0.89
R6593:Cep290	UTSW	10	100,508,776 (GRCm38)	missense	probably benign	0.01
R6649:Cep290	UTSW	10	100,518,531 (GRCm38)	missense	probably benign	0.28
R6692:Cep290	UTSW	10	100,569,144 (GRCm38)	splice site	probably null
R6788:Cep290	UTSW	10	100,488,628 (GRCm38)	missense	probably damaging	1.00
R6847:Cep290	UTSW	10	100,563,419 (GRCm38)	missense	probably damaging	1.00
R6947:Cep290	UTSW	10	100,530,056 (GRCm38)	missense	probably damaging	1.00
R7035:Cep290	UTSW	10	100,499,071 (GRCm38)	missense	probably benign	0.07
R7073:Cep290	UTSW	10	100,539,003 (GRCm38)	missense	possibly damaging	0.90
R7114:Cep290	UTSW	10	100,543,358 (GRCm38)	missense	probably damaging	0.98
R7256:Cep290	UTSW	10	100,546,498 (GRCm38)	missense	probably damaging	1.00
R7258:Cep290	UTSW	10	100,499,108 (GRCm38)	missense	probably benign	0.01
R7311:Cep290	UTSW	10	100,537,718 (GRCm38)	missense	probably damaging	0.98
R7505:Cep290	UTSW	10	100,516,265 (GRCm38)	missense	probably benign	0.01
R7615:Cep290	UTSW	10	100,492,681 (GRCm38)	missense	probably benign	0.03
R7643:Cep290	UTSW	10	100,537,553 (GRCm38)	missense	probably benign
R7662:Cep290	UTSW	10	100,537,803 (GRCm38)	missense	probably benign	0.21
R7663:Cep290	UTSW	10	100,554,536 (GRCm38)	critical splice donor site	probably null
R7685:Cep290	UTSW	10	100,540,057 (GRCm38)	missense	probably benign	0.19
R7699:Cep290	UTSW	10	100,540,369 (GRCm38)	missense	probably benign	0.33
R7717:Cep290	UTSW	10	100,492,681 (GRCm38)	missense	probably benign	0.03
R7747:Cep290	UTSW	10	100,558,176 (GRCm38)	nonsense	probably null
R7757:Cep290	UTSW	10	100,563,434 (GRCm38)	missense	probably benign
R7843:Cep290	UTSW	10	100,516,188 (GRCm38)	missense	possibly damaging	0.49
R7905:Cep290	UTSW	10	100,554,490 (GRCm38)	missense	probably benign
R8078:Cep290	UTSW	10	100,572,887 (GRCm38)	missense	probably benign	0.04
R8081:Cep290	UTSW	10	100,558,176 (GRCm38)	nonsense	probably null
R8094:Cep290	UTSW	10	100,544,931 (GRCm38)	missense	possibly damaging	0.95
R8266:Cep290	UTSW	10	100,559,671 (GRCm38)	missense	probably benign	0.08
R8305:Cep290	UTSW	10	100,544,934 (GRCm38)	missense	probably benign	0.09
R8325:Cep290	UTSW	10	100,517,808 (GRCm38)	missense	probably benign	0.03
R8372:Cep290	UTSW	10	100,549,341 (GRCm38)	missense	probably benign	0.00
R8443:Cep290	UTSW	10	100,495,844 (GRCm38)	missense	possibly damaging	0.80
R8497:Cep290	UTSW	10	100,551,458 (GRCm38)	missense	probably damaging	1.00
R8778:Cep290	UTSW	10	100,514,512 (GRCm38)	nonsense	probably null
R8975:Cep290	UTSW	10	100,513,920 (GRCm38)	missense	possibly damaging	0.54
R9146:Cep290	UTSW	10	100,541,803 (GRCm38)	missense	probably benign	0.44
R9264:Cep290	UTSW	10	100,498,016 (GRCm38)	missense	possibly damaging	0.86
R9374:Cep290	UTSW	10	100,536,867 (GRCm38)	missense	probably damaging	0.98
R9448:Cep290	UTSW	10	100,559,684 (GRCm38)	missense	probably benign	0.32
R9499:Cep290	UTSW	10	100,536,867 (GRCm38)	missense	probably damaging	0.98
R9507:Cep290	UTSW	10	100,494,923 (GRCm38)	missense	possibly damaging	0.81
R9539:Cep290	UTSW	10	100,568,851 (GRCm38)	missense	probably damaging	1.00
R9547:Cep290	UTSW	10	100,544,979 (GRCm38)	missense	probably benign	0.00
R9551:Cep290	UTSW	10	100,536,867 (GRCm38)	missense	probably damaging	0.98
R9657:Cep290	UTSW	10	100,515,141 (GRCm38)	missense	possibly damaging	0.93
R9731:Cep290	UTSW	10	100,510,542 (GRCm38)	missense	probably damaging	0.98
R9756:Cep290	UTSW	10	100,516,172 (GRCm38)	missense	probably damaging	0.97
R9777:Cep290	UTSW	10	100,518,667 (GRCm38)	missense	probably benign	0.01
Z1176:Cep290	UTSW	10	100,549,374 (GRCm38)	critical splice donor site	probably benign
Z1177:Cep290	UTSW	10	100,538,997 (GRCm38)	missense	possibly damaging	0.89
Z1177:Cep290	UTSW	10	100,497,944 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACCCTATGGCTCTATTTAATTGTAG -3'
(R):5'- TGCACGTGAAGAGCCCTTTG -3'

Sequencing Primer
(F):5'- GAGAAGATTGAAGTTCAGAACC -3'
(R):5'- GAAGAGCCCTTTGGACAAGTATGTC -3'

Posted On

2014-06-23