Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Cep290'

392497

Institutional Source

Beutler Lab

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

Kiaa, Nphp6, b2b1752Clo, b2b1454Clo

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100323410-100409527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100374882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 1376 (L1376W)

Ref Sequence

ENSEMBL: ENSMUSP00000151388 (fasta)

Gene Model

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

AlphaFold

Q6A078

Predicted Effect

probably damaging
Transcript: ENSMUST00000164751
AA Change: L1376W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: L1376W

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: ENSMUST00000218703

Predicted Effect

probably benign
Transcript: ENSMUST00000219408

Predicted Effect

probably damaging
Transcript: ENSMUST00000219765
AA Change: L1369W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220346
AA Change: L1376W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.0981

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	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
IGL03105:Cep290	APN	10	100,387,686 (GRCm39)	missense	possibly damaging	0.66
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAATGTTACTAGGCTATTCATTTCG -3'
(R):5'- TGTGTTCTAAATCAGCACTGACATCC -3'

Sequencing Primer
(F):5'- GCTTTGCCATTAATTTCGAT -3'
(R):5'- GCATGTTTGGGAATTTAAAAAGCAAG -3'

Posted On

2016-06-15