Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Cep290'

480899

Institutional Source

Beutler Lab

Gene Symbol

Cep290

Ensembl Gene

ENSMUSG00000019971

Gene Name

centrosomal protein 290

Synonyms

b2b1454Clo, Nphp6, b2b1752Clo

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100487558-100574840 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100543321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 55 (A55V)

Ref Sequence

ENSEMBL: ENSMUSP00000151414 (fasta)

Gene Model

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

AlphaFold

Q6A078

Predicted Effect

probably benign
Transcript: ENSMUST00000164751
AA Change: A1632V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130899
Gene: ENSMUSG00000019971
AA Change: A1632V

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

possibly damaging
Transcript: ENSMUST00000219408
AA Change: A55V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219643

Predicted Effect

probably benign
Transcript: ENSMUST00000219765
AA Change: A1625V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000220346
AA Change: A1632V

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623 (GRCm38)	L188*	probably null	Het
Acod1	C	T	14: 103,055,035 (GRCm38)	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335 (GRCm38)	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696 (GRCm38)		probably benign	Het
Aff4	A	G	11: 53,373,010 (GRCm38)	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651 (GRCm38)		probably null	Het
Aqr	A	T	2: 114,143,049 (GRCm38)	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956 (GRCm38)		probably benign	Het
Arpp21	T	A	9: 112,143,485 (GRCm38)	R259*	probably null	Het
Chsy3	GT	G	18: 59,176,166 (GRCm38)	163	probably null	Het
Clcn2	T	C	16: 20,713,654 (GRCm38)	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389 (GRCm38)	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053 (GRCm38)	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576 (GRCm38)	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581 (GRCm38)	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341 (GRCm38)	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451 (GRCm38)	S893R	unknown	Het
Dtl	A	T	1: 191,568,572 (GRCm38)		probably null	Het
F2rl1	T	A	13: 95,514,270 (GRCm38)	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534 (GRCm38)	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508 (GRCm38)	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592 (GRCm38)	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851 (GRCm38)	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421 (GRCm38)	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792 (GRCm38)	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916 (GRCm38)	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470 (GRCm38)		probably null	Het
Lrsam1	T	C	2: 32,955,222 (GRCm38)	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585 (GRCm38)	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291 (GRCm38)	M1I	probably null	Het
March7	C	A	2: 60,245,220 (GRCm38)	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295 (GRCm38)	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069 (GRCm38)	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418 (GRCm38)	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747 (GRCm38)	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453 (GRCm38)	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524 (GRCm38)	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507 (GRCm38)	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573 (GRCm38)		probably null	Het
Olfr1231	T	A	2: 89,303,359 (GRCm38)	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879 (GRCm38)	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009 (GRCm38)	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449 (GRCm38)	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993 (GRCm38)	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326 (GRCm38)	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787 (GRCm38)		probably null	Het
Poldip3	A	T	15: 83,129,229 (GRCm38)	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947 (GRCm38)	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830 (GRCm38)	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769 (GRCm38)	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998 (GRCm38)		probably benign	Het
Rb1cc1	A	G	1: 6,233,996 (GRCm38)	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703 (GRCm38)	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250 (GRCm38)	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637 (GRCm38)	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543 (GRCm38)	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456 (GRCm38)	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996 (GRCm38)	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904 (GRCm38)	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534 (GRCm38)	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553 (GRCm38)	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196 (GRCm38)	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814 (GRCm38)	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935 (GRCm38)	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184 (GRCm38)	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391 (GRCm38)	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485 (GRCm38)	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647 (GRCm38)	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449 (GRCm38)		probably null	Het
Zfp608	G	A	18: 54,899,248 (GRCm38)	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816 (GRCm38)	R208Q	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
R1775:Cep290	UTSW	10	100,496,810 (GRCm38)	missense	probably damaging	0.98
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
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'- TGCTCATAACCGTGCATTGC -3'
(R):5'- CAGCAGGTACAAGCTTTATCATAGC -3'

Sequencing Primer
(F):5'- TGCATTGCACTTAGACACTGAC -3'
(R):5'- ACAAGCTTTATCATAGCATAACTTCC -3'

Posted On

2017-06-26