Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Cep290'

647890

Institutional Source

Beutler Lab

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

Kiaa, Nphp6, b2b1752Clo, b2b1454Clo

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100323410-100409527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100376231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1447 (S1447G)

Ref Sequence

ENSEMBL: ENSMUSP00000130899 (fasta)

Gene Model

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

AlphaFold

Q6A078

Predicted Effect

probably benign
Transcript: ENSMUST00000164751
AA Change: S1447G

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: S1447G

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 benign
Transcript: ENSMUST00000219408

Predicted Effect

probably benign
Transcript: ENSMUST00000219765
AA Change: S1440G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000220346
AA Change: S1447G

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,070,792 (GRCm39)	P638T	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,319,674 (GRCm39)	I1404N	probably damaging	Het
Cdc42se1	A	G	3: 95,139,908 (GRCm39)	N35D	probably damaging	Het
Chd6	T	A	2: 160,867,863 (GRCm39)	H436L	probably benign	Het
Cnbd2	T	C	2: 156,217,326 (GRCm39)	V605A	probably benign	Het
Col22a1	T	A	15: 71,845,700 (GRCm39)	D354V	probably damaging	Het
Col25a1	T	A	3: 130,316,128 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,514,734 (GRCm39)	M1L	possibly damaging	Het
Cux1	A	T	5: 136,514,593 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,335 (GRCm39)	S226T	unknown	Het
Cyp4b1	T	C	4: 115,499,162 (GRCm39)	D68G	probably benign	Het
Dicer1	A	C	12: 104,671,429 (GRCm39)	L947R	probably damaging	Het
Dmp1	T	C	5: 104,359,590 (GRCm39)	S89P	probably damaging	Het
Dpf1	A	G	7: 29,011,032 (GRCm39)	K144E	possibly damaging	Het
Emc1	T	A	4: 139,082,181 (GRCm39)	H94Q	probably benign	Het
Ep300	C	T	15: 81,470,594 (GRCm39)		probably benign	Het
Epha10	T	C	4: 124,796,440 (GRCm39)	I383T		Het
Epo	T	A	5: 137,483,438 (GRCm39)	E5D	probably benign	Het
Esp15	G	A	17: 39,955,624 (GRCm39)	V64I	possibly damaging	Het
Fbxl18	A	T	5: 142,871,504 (GRCm39)	V577E	probably damaging	Het
Fhl4	A	T	10: 84,934,113 (GRCm39)	C223S	probably damaging	Het
Fhl4	A	T	10: 84,934,379 (GRCm39)	I134N	probably benign	Het
Frmpd2	G	T	14: 33,264,895 (GRCm39)	M891I	probably benign	Het
Gk2	T	C	5: 97,604,257 (GRCm39)	I194V	probably benign	Het
Glt8d2	A	C	10: 82,498,122 (GRCm39)		probably null	Het
Gm12886	G	C	4: 121,273,876 (GRCm39)	H113Q	possibly damaging	Het
Hycc1	A	G	5: 24,120,494 (GRCm39)	S345P	probably damaging	Het
Ighv1-36	A	T	12: 114,843,646 (GRCm39)	Y71*	probably null	Het
Il18bp	A	G	7: 101,666,029 (GRCm39)	W50R	probably damaging	Het
Jmjd1c	T	A	10: 67,054,195 (GRCm39)	I33K	probably benign	Het
Lama5	C	T	2: 179,822,654 (GRCm39)	A2833T	probably damaging	Het
Manea	T	G	4: 26,340,758 (GRCm39)	N68T	probably benign	Het
Map1a	T	C	2: 121,130,201 (GRCm39)	L339P	probably damaging	Het
Mblac1	A	C	5: 138,192,919 (GRCm39)	D87A	probably damaging	Het
Mmp24	C	T	2: 155,640,096 (GRCm39)	T142I	probably damaging	Het
Mpp2	T	A	11: 101,950,261 (GRCm39)	H531L	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mx1	T	A	16: 97,249,521 (GRCm39)	I339F	unknown	Het
Naip2	G	A	13: 100,296,877 (GRCm39)	T1053I	probably benign	Het
Nckap1l	A	G	15: 103,371,248 (GRCm39)		probably null	Het
Or51f23c-ps1	A	G	7: 102,431,529 (GRCm39)	Y282C	possibly damaging	Het
Or5an1b	T	C	19: 12,299,841 (GRCm39)	T117A	probably benign	Het
Otud7b	T	C	3: 96,063,280 (GRCm39)	F840L	probably damaging	Het
Pdzd8	T	C	19: 59,333,373 (GRCm39)	Y216C	probably damaging	Het
Pkd1l1	T	A	11: 8,915,142 (GRCm39)	I133F		Het
Plaur	A	G	7: 24,173,692 (GRCm39)	N221S	possibly damaging	Het
Plin4	T	C	17: 56,410,828 (GRCm39)	T1068A	probably benign	Het
Plxnd1	T	C	6: 115,936,755 (GRCm39)	D1659G	probably damaging	Het
Prpf8	T	A	11: 75,391,022 (GRCm39)	M1357K	probably benign	Het
Prr36	G	T	8: 4,263,989 (GRCm39)	T559N	unknown	Het
Prss46	A	G	9: 110,678,622 (GRCm39)	M2V	probably benign	Het
Rbpms	T	A	8: 34,354,391 (GRCm39)	E51D	probably damaging	Het
Rere	C	T	4: 150,701,555 (GRCm39)	R328W		Het
Retnla	T	A	16: 48,663,176 (GRCm39)	N26K	probably benign	Het
Rubcnl	G	A	14: 75,269,404 (GRCm39)	V21I	probably benign	Het
Safb	T	A	17: 56,908,504 (GRCm39)	S598R	unknown	Het
Sertad4	A	G	1: 192,529,175 (GRCm39)	S214P	possibly damaging	Het
Sin3a	C	T	9: 57,017,938 (GRCm39)	Q786*	probably null	Het
Slc8a3	A	C	12: 81,361,247 (GRCm39)	L524W	probably damaging	Het
Sp3	T	C	2: 72,801,573 (GRCm39)	T191A	probably benign	Het
Sp9	T	C	2: 73,103,724 (GRCm39)	S93P	probably damaging	Het
Tbrg1	A	C	9: 37,560,771 (GRCm39)	H368Q	probably benign	Het
Tinagl1	T	G	4: 130,061,832 (GRCm39)	Q198H	probably benign	Het
Usp19	C	T	9: 108,373,371 (GRCm39)	R648*	probably null	Het
Vmn2r124	A	G	17: 18,293,985 (GRCm39)	M691V	probably benign	Het
Vmn2r2	T	A	3: 64,024,536 (GRCm39)	M682L	possibly damaging	Het
Vps13d	T	A	4: 144,811,975 (GRCm39)	H3344L		Het
Vwa3a	G	A	7: 120,351,841 (GRCm39)	G35E	probably damaging	Het
Zfhx3	A	G	8: 109,677,754 (GRCm39)	S2935G	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp758	C	A	17: 22,594,646 (GRCm39)	Y377*	probably null	Het
Zfp952	A	G	17: 33,220,983 (GRCm39)	K67R	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
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
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'- GCTTTGTACCATGGCTTAAAGC -3'
(R):5'- AGAGGAATTAGCAAAACTCTGCCAC -3'

Sequencing Primer
(F):5'- AGGATGTATGCTTTATGTGAATTGTC -3'
(R):5'- CTCTTCTAGTGACTTGCAAG -3'

Posted On

2020-09-02