Incidental Mutation 'R4812:Cplane1'
ID |
369591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cplane1
|
Ensembl Gene |
ENSMUSG00000039801 |
Gene Name |
ciliogenesis and planar polarity effector 1 |
Synonyms |
Hug, 2410089E03Rik, b2b012Clo, Jbts17 |
MMRRC Submission |
042431-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4812 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
8198590-8300642 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 8230607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106247
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110617]
[ENSMUST00000110617]
[ENSMUST00000110617]
[ENSMUST00000110617]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000110617
|
SMART Domains |
Protein: ENSMUSP00000106247 Gene: ENSMUSG00000039801
Domain | Start | End | E-Value | Type |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
868 |
883 |
N/A |
INTRINSIC |
low complexity region
|
949 |
962 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1827 |
1838 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1930 |
N/A |
INTRINSIC |
low complexity region
|
2130 |
2145 |
N/A |
INTRINSIC |
coiled coil region
|
2750 |
2782 |
N/A |
INTRINSIC |
low complexity region
|
2838 |
2850 |
N/A |
INTRINSIC |
Pfam:Joubert
|
2894 |
3207 |
1.9e-136 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110617
|
SMART Domains |
Protein: ENSMUSP00000106247 Gene: ENSMUSG00000039801
Domain | Start | End | E-Value | Type |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
868 |
883 |
N/A |
INTRINSIC |
low complexity region
|
949 |
962 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1827 |
1838 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1930 |
N/A |
INTRINSIC |
low complexity region
|
2130 |
2145 |
N/A |
INTRINSIC |
coiled coil region
|
2750 |
2782 |
N/A |
INTRINSIC |
low complexity region
|
2838 |
2850 |
N/A |
INTRINSIC |
Pfam:Joubert
|
2894 |
3207 |
1.9e-136 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110617
|
SMART Domains |
Protein: ENSMUSP00000106247 Gene: ENSMUSG00000039801
Domain | Start | End | E-Value | Type |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
868 |
883 |
N/A |
INTRINSIC |
low complexity region
|
949 |
962 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1827 |
1838 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1930 |
N/A |
INTRINSIC |
low complexity region
|
2130 |
2145 |
N/A |
INTRINSIC |
coiled coil region
|
2750 |
2782 |
N/A |
INTRINSIC |
low complexity region
|
2838 |
2850 |
N/A |
INTRINSIC |
Pfam:Joubert
|
2894 |
3207 |
1.9e-136 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110617
|
SMART Domains |
Protein: ENSMUSP00000106247 Gene: ENSMUSG00000039801
Domain | Start | End | E-Value | Type |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
868 |
883 |
N/A |
INTRINSIC |
low complexity region
|
949 |
962 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1827 |
1838 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1930 |
N/A |
INTRINSIC |
low complexity region
|
2130 |
2145 |
N/A |
INTRINSIC |
coiled coil region
|
2750 |
2782 |
N/A |
INTRINSIC |
low complexity region
|
2838 |
2850 |
N/A |
INTRINSIC |
Pfam:Joubert
|
2894 |
3207 |
1.9e-136 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130748
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
93% (124/133) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] PHENOTYPE: Homozygotes exhibit double outlet right ventricle {SDD}, pulmonary atresia/hypolastic pulmonary artery, atrioventricular septal defect, and right aortic arch. Non-cardiovascular defects include cleft palate, polydactyly, transparent chest wall (sternal bone hypoplasia) and hypoplastic lungs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 128 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
C |
T |
3: 40,575,633 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
T |
C |
11: 110,192,647 (GRCm39) |
D681G |
probably damaging |
Het |
Actl11 |
T |
C |
9: 107,808,329 (GRCm39) |
V884A |
probably damaging |
Het |
Akr1c14 |
G |
A |
13: 4,129,165 (GRCm39) |
V187M |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,232 (GRCm39) |
N126K |
probably damaging |
Het |
Bmt2 |
G |
T |
6: 13,677,799 (GRCm39) |
R12S |
unknown |
Het |
Btrc |
G |
A |
19: 45,411,603 (GRCm39) |
C9Y |
possibly damaging |
Het |
C5ar1 |
A |
C |
7: 15,982,258 (GRCm39) |
|
probably null |
Het |
C8a |
C |
T |
4: 104,719,788 (GRCm39) |
|
probably null |
Het |
Cabin1 |
A |
G |
10: 75,482,428 (GRCm39) |
S2172P |
possibly damaging |
Het |
Calcoco2 |
T |
C |
11: 95,998,276 (GRCm39) |
D49G |
probably damaging |
Het |
Camta1 |
C |
T |
4: 151,215,999 (GRCm39) |
D974N |
probably null |
Het |
Car6 |
T |
C |
4: 150,281,872 (GRCm39) |
E47G |
probably damaging |
Het |
Ccnd3 |
G |
A |
17: 47,908,505 (GRCm39) |
|
probably null |
Het |
Celf5 |
A |
T |
10: 81,306,573 (GRCm39) |
V30E |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,425,368 (GRCm39) |
V776I |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,215,916 (GRCm39) |
D1513V |
probably damaging |
Het |
Cinp |
T |
C |
12: 110,846,174 (GRCm39) |
Y84C |
probably damaging |
Het |
Cnih1 |
A |
G |
14: 47,014,001 (GRCm39) |
I154T |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,262,479 (GRCm39) |
P511L |
possibly damaging |
Het |
Col4a4 |
C |
T |
1: 82,439,874 (GRCm39) |
V1364M |
unknown |
Het |
Crtam |
A |
G |
9: 40,895,621 (GRCm39) |
L38P |
probably damaging |
Het |
Ctnna1 |
T |
A |
18: 35,372,530 (GRCm39) |
V495D |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,463,887 (GRCm39) |
Y606C |
probably damaging |
Het |
Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
Dctn1 |
A |
T |
6: 83,166,919 (GRCm39) |
M160L |
probably benign |
Het |
Dip2c |
T |
A |
13: 9,687,166 (GRCm39) |
C366* |
probably null |
Het |
Dnajc2 |
G |
A |
5: 21,968,484 (GRCm39) |
S401L |
probably benign |
Het |
Dnmt3l |
A |
G |
10: 77,893,128 (GRCm39) |
I302V |
probably benign |
Het |
Dvl2 |
T |
C |
11: 69,902,119 (GRCm39) |
|
probably benign |
Het |
Edn1 |
T |
G |
13: 42,457,116 (GRCm39) |
S50A |
probably benign |
Het |
Efhc1 |
A |
T |
1: 21,060,871 (GRCm39) |
R636W |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,022,399 (GRCm39) |
H1047Q |
probably benign |
Het |
Etv1 |
T |
G |
12: 38,911,287 (GRCm39) |
V371G |
probably damaging |
Het |
Fap |
T |
A |
2: 62,349,365 (GRCm39) |
I475F |
probably damaging |
Het |
Fbxw15 |
T |
C |
9: 109,388,990 (GRCm39) |
I140V |
probably benign |
Het |
Fer |
A |
G |
17: 64,241,292 (GRCm39) |
T311A |
probably benign |
Het |
Fh1 |
A |
G |
1: 175,429,025 (GRCm39) |
W497R |
probably damaging |
Het |
Flot2 |
T |
A |
11: 77,944,191 (GRCm39) |
L45Q |
probably damaging |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,089,390 (GRCm39) |
|
probably benign |
Het |
Garin5b |
G |
A |
7: 4,762,071 (GRCm39) |
T295M |
probably damaging |
Het |
Ggta1 |
C |
T |
2: 35,292,735 (GRCm39) |
V203I |
probably benign |
Het |
Gm19345 |
C |
T |
7: 19,591,798 (GRCm39) |
V204M |
probably damaging |
Het |
Gm4204 |
T |
A |
1: 135,160,227 (GRCm39) |
|
noncoding transcript |
Het |
Gm6124 |
C |
G |
7: 38,872,319 (GRCm39) |
|
noncoding transcript |
Het |
Gprin3 |
T |
A |
6: 59,330,350 (GRCm39) |
K652N |
possibly damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,653,346 (GRCm39) |
|
probably null |
Het |
Hace1 |
C |
A |
10: 45,562,699 (GRCm39) |
A738E |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
Hnrnpdl |
T |
C |
5: 100,184,331 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
C |
9: 44,298,418 (GRCm39) |
|
probably benign |
Het |
Ifi44l |
G |
A |
3: 151,465,336 (GRCm39) |
A138V |
probably benign |
Het |
Igkv16-104 |
A |
T |
6: 68,402,829 (GRCm39) |
I41F |
possibly damaging |
Het |
Ints7 |
T |
A |
1: 191,326,542 (GRCm39) |
D171E |
possibly damaging |
Het |
Irag2 |
G |
A |
6: 145,093,737 (GRCm39) |
G120S |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,742,651 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
T |
C |
5: 23,707,585 (GRCm39) |
V1716A |
possibly damaging |
Het |
Krtap5-1 |
G |
A |
7: 141,850,628 (GRCm39) |
S60F |
unknown |
Het |
Lama4 |
G |
A |
10: 38,948,765 (GRCm39) |
V843I |
probably benign |
Het |
Laptm5 |
A |
G |
4: 130,640,749 (GRCm39) |
|
probably null |
Het |
Lbhd1 |
G |
A |
19: 8,866,538 (GRCm39) |
A193T |
probably damaging |
Het |
Lce3f |
C |
T |
3: 92,900,247 (GRCm39) |
P23S |
unknown |
Het |
Mecom |
A |
C |
3: 30,194,517 (GRCm39) |
M1R |
probably null |
Het |
Mindy4 |
A |
C |
6: 55,256,088 (GRCm39) |
T531P |
possibly damaging |
Het |
Mrpl3 |
A |
G |
9: 104,951,023 (GRCm39) |
N263S |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,957,584 (GRCm39) |
K1460E |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,905,007 (GRCm39) |
Y852H |
probably damaging |
Het |
Nefl |
T |
G |
14: 68,321,734 (GRCm39) |
V108G |
probably damaging |
Het |
Nid1 |
T |
A |
13: 13,681,053 (GRCm39) |
L1061* |
probably null |
Het |
Nim1k |
T |
A |
13: 120,173,920 (GRCm39) |
M325L |
probably benign |
Het |
Nlrp1c-ps |
T |
C |
11: 71,143,131 (GRCm39) |
|
noncoding transcript |
Het |
Npsr1 |
C |
T |
9: 24,201,252 (GRCm39) |
T59I |
probably damaging |
Het |
Nr2c1 |
A |
G |
10: 94,024,114 (GRCm39) |
T440A |
probably benign |
Het |
Nup160 |
C |
T |
2: 90,556,035 (GRCm39) |
T1245I |
probably damaging |
Het |
Nup88 |
T |
A |
11: 70,856,552 (GRCm39) |
T194S |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,899,212 (GRCm39) |
|
probably benign |
Het |
Odad2 |
T |
G |
18: 7,288,634 (GRCm39) |
T78P |
possibly damaging |
Het |
Opn1sw |
A |
T |
6: 29,378,038 (GRCm39) |
M252K |
probably damaging |
Het |
Oprm1 |
T |
G |
10: 6,782,698 (GRCm39) |
|
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,406,087 (GRCm39) |
I220V |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,284 (GRCm39) |
I103K |
possibly damaging |
Het |
Or4x13 |
T |
A |
2: 90,231,440 (GRCm39) |
M145K |
probably benign |
Het |
Pcdha2 |
T |
A |
18: 37,072,861 (GRCm39) |
V164E |
probably benign |
Het |
Pclo |
A |
G |
5: 14,590,039 (GRCm39) |
T780A |
unknown |
Het |
Pcnx2 |
T |
A |
8: 126,592,678 (GRCm39) |
Q762L |
probably benign |
Het |
Pcyt2 |
A |
T |
11: 120,505,251 (GRCm39) |
|
probably benign |
Het |
Pdpr |
A |
G |
8: 111,843,349 (GRCm39) |
N294D |
probably benign |
Het |
Perm1 |
T |
A |
4: 156,303,193 (GRCm39) |
V579E |
possibly damaging |
Het |
Pgk2 |
T |
A |
17: 40,518,281 (GRCm39) |
K382N |
possibly damaging |
Het |
Plcb4 |
T |
A |
2: 135,849,801 (GRCm39) |
L205Q |
probably damaging |
Het |
Plekha3 |
C |
T |
2: 76,516,975 (GRCm39) |
T109I |
probably damaging |
Het |
Pnn |
T |
A |
12: 59,118,404 (GRCm39) |
V329E |
possibly damaging |
Het |
Ptpn13 |
A |
G |
5: 103,671,481 (GRCm39) |
I469M |
probably benign |
Het |
Rapgef3 |
A |
G |
15: 97,651,684 (GRCm39) |
V603A |
probably benign |
Het |
Rbms1 |
C |
T |
2: 60,623,113 (GRCm39) |
V75I |
possibly damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,731 (GRCm39) |
D226E |
probably damaging |
Het |
Robo2 |
A |
T |
16: 73,713,176 (GRCm39) |
N1189K |
probably benign |
Het |
Rragd |
A |
G |
4: 33,018,766 (GRCm39) |
T270A |
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,557,889 (GRCm39) |
T530S |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,742,581 (GRCm39) |
E479G |
probably damaging |
Het |
Scd2 |
A |
T |
19: 44,289,841 (GRCm39) |
I279F |
probably damaging |
Het |
Sh3d19 |
A |
T |
3: 86,031,074 (GRCm39) |
D746V |
probably damaging |
Het |
Shroom4 |
A |
G |
X: 6,536,180 (GRCm39) |
K1133E |
probably benign |
Het |
Sirpb1c |
A |
G |
3: 15,887,386 (GRCm39) |
V151A |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,335,093 (GRCm39) |
I120N |
probably damaging |
Het |
Slco1a1 |
A |
G |
6: 141,864,319 (GRCm39) |
S494P |
probably damaging |
Het |
Srebf2 |
A |
T |
15: 82,088,026 (GRCm39) |
T1061S |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,467,444 (GRCm39) |
L4202P |
probably benign |
Het |
Synj2 |
G |
A |
17: 6,060,939 (GRCm39) |
G215E |
probably damaging |
Het |
Tbc1d19 |
T |
C |
5: 53,967,148 (GRCm39) |
V16A |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,585,050 (GRCm39) |
H262R |
probably benign |
Het |
Tiparp |
T |
C |
3: 65,460,190 (GRCm39) |
I495T |
possibly damaging |
Het |
Tipin |
A |
G |
9: 64,211,694 (GRCm39) |
H260R |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,063,591 (GRCm39) |
S221P |
probably damaging |
Het |
Tmem94 |
T |
A |
11: 115,686,938 (GRCm39) |
L1101* |
probably null |
Het |
Trim43b |
C |
T |
9: 88,973,533 (GRCm39) |
D67N |
probably benign |
Het |
Ubn2 |
T |
A |
6: 38,440,661 (GRCm39) |
C178S |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,307 (GRCm39) |
F74L |
probably benign |
Het |
Vmn2r24 |
A |
G |
6: 123,756,144 (GRCm39) |
H72R |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,929,732 (GRCm39) |
V850I |
probably benign |
Het |
Zan |
T |
G |
5: 137,454,547 (GRCm39) |
Y1419S |
unknown |
Het |
Zbtb14 |
T |
A |
17: 69,694,577 (GRCm39) |
Y92N |
probably damaging |
Het |
Zfand5 |
A |
G |
19: 21,255,101 (GRCm39) |
K116E |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,674,593 (GRCm39) |
E1881G |
possibly damaging |
Het |
Zfp280b |
A |
G |
10: 75,874,924 (GRCm39) |
K268E |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,813,035 (GRCm39) |
I563V |
probably benign |
Het |
Zfy2 |
T |
A |
Y: 2,106,334 (GRCm39) |
I767L |
probably benign |
Het |
|
Other mutations in Cplane1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00756:Cplane1
|
APN |
15 |
8,293,931 (GRCm39) |
splice site |
probably benign |
|
IGL00766:Cplane1
|
APN |
15 |
8,281,648 (GRCm39) |
missense |
unknown |
|
IGL01483:Cplane1
|
APN |
15 |
8,216,591 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01520:Cplane1
|
APN |
15 |
8,251,395 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01578:Cplane1
|
APN |
15 |
8,300,194 (GRCm39) |
missense |
unknown |
|
IGL01701:Cplane1
|
APN |
15 |
8,232,741 (GRCm39) |
splice site |
probably benign |
|
IGL01892:Cplane1
|
APN |
15 |
8,271,749 (GRCm39) |
splice site |
probably benign |
|
IGL01895:Cplane1
|
APN |
15 |
8,258,591 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01922:Cplane1
|
APN |
15 |
8,300,305 (GRCm39) |
missense |
unknown |
|
IGL01978:Cplane1
|
APN |
15 |
8,248,866 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02031:Cplane1
|
APN |
15 |
8,209,253 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02318:Cplane1
|
APN |
15 |
8,204,509 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02321:Cplane1
|
APN |
15 |
8,246,056 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02363:Cplane1
|
APN |
15 |
8,247,921 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02404:Cplane1
|
APN |
15 |
8,216,768 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02535:Cplane1
|
APN |
15 |
8,204,322 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Cplane1
|
APN |
15 |
8,209,375 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02895:Cplane1
|
APN |
15 |
8,261,591 (GRCm39) |
splice site |
probably benign |
|
IGL02903:Cplane1
|
APN |
15 |
8,299,262 (GRCm39) |
missense |
unknown |
|
IGL02903:Cplane1
|
APN |
15 |
8,299,263 (GRCm39) |
missense |
unknown |
|
IGL02979:Cplane1
|
APN |
15 |
8,248,038 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03077:Cplane1
|
APN |
15 |
8,242,279 (GRCm39) |
splice site |
probably benign |
|
IGL03196:Cplane1
|
APN |
15 |
8,230,826 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03344:Cplane1
|
APN |
15 |
8,216,942 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03368:Cplane1
|
APN |
15 |
8,251,857 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03403:Cplane1
|
APN |
15 |
8,230,826 (GRCm39) |
missense |
probably damaging |
0.98 |
agnes
|
UTSW |
15 |
8,276,422 (GRCm39) |
nonsense |
probably null |
|
dei
|
UTSW |
15 |
8,215,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Cplane1
|
UTSW |
15 |
8,215,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Cplane1
|
UTSW |
15 |
8,215,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R0101:Cplane1
|
UTSW |
15 |
8,250,444 (GRCm39) |
missense |
probably benign |
0.00 |
R0105:Cplane1
|
UTSW |
15 |
8,216,876 (GRCm39) |
missense |
probably benign |
|
R0105:Cplane1
|
UTSW |
15 |
8,216,876 (GRCm39) |
missense |
probably benign |
|
R0165:Cplane1
|
UTSW |
15 |
8,245,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0306:Cplane1
|
UTSW |
15 |
8,209,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Cplane1
|
UTSW |
15 |
8,246,046 (GRCm39) |
missense |
probably benign |
0.00 |
R0491:Cplane1
|
UTSW |
15 |
8,211,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Cplane1
|
UTSW |
15 |
8,223,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Cplane1
|
UTSW |
15 |
8,289,277 (GRCm39) |
missense |
unknown |
|
R0679:Cplane1
|
UTSW |
15 |
8,252,606 (GRCm39) |
missense |
probably benign |
0.39 |
R0704:Cplane1
|
UTSW |
15 |
8,239,567 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0707:Cplane1
|
UTSW |
15 |
8,287,805 (GRCm39) |
missense |
unknown |
|
R0715:Cplane1
|
UTSW |
15 |
8,252,576 (GRCm39) |
missense |
probably benign |
0.14 |
R0762:Cplane1
|
UTSW |
15 |
8,247,900 (GRCm39) |
unclassified |
probably benign |
|
R0830:Cplane1
|
UTSW |
15 |
8,276,669 (GRCm39) |
missense |
unknown |
|
R0924:Cplane1
|
UTSW |
15 |
8,280,554 (GRCm39) |
splice site |
probably benign |
|
R1071:Cplane1
|
UTSW |
15 |
8,247,910 (GRCm39) |
missense |
probably benign |
0.20 |
R1184:Cplane1
|
UTSW |
15 |
8,245,971 (GRCm39) |
missense |
probably benign |
|
R1224:Cplane1
|
UTSW |
15 |
8,207,869 (GRCm39) |
missense |
probably benign |
0.06 |
R1416:Cplane1
|
UTSW |
15 |
8,276,422 (GRCm39) |
nonsense |
probably null |
|
R1428:Cplane1
|
UTSW |
15 |
8,248,853 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1487:Cplane1
|
UTSW |
15 |
8,215,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R1641:Cplane1
|
UTSW |
15 |
8,258,443 (GRCm39) |
missense |
probably benign |
0.41 |
R1652:Cplane1
|
UTSW |
15 |
8,230,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Cplane1
|
UTSW |
15 |
8,258,093 (GRCm39) |
missense |
probably benign |
0.00 |
R1715:Cplane1
|
UTSW |
15 |
8,256,384 (GRCm39) |
splice site |
probably null |
|
R1820:Cplane1
|
UTSW |
15 |
8,299,129 (GRCm39) |
missense |
unknown |
|
R1863:Cplane1
|
UTSW |
15 |
8,258,077 (GRCm39) |
missense |
probably benign |
0.00 |
R1940:Cplane1
|
UTSW |
15 |
8,263,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R1967:Cplane1
|
UTSW |
15 |
8,232,904 (GRCm39) |
missense |
probably benign |
0.09 |
R2064:Cplane1
|
UTSW |
15 |
8,215,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R2076:Cplane1
|
UTSW |
15 |
8,248,741 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2163:Cplane1
|
UTSW |
15 |
8,232,735 (GRCm39) |
splice site |
probably null |
|
R2208:Cplane1
|
UTSW |
15 |
8,223,887 (GRCm39) |
missense |
probably benign |
0.33 |
R2504:Cplane1
|
UTSW |
15 |
8,248,700 (GRCm39) |
missense |
probably damaging |
0.99 |
R2568:Cplane1
|
UTSW |
15 |
8,230,753 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2845:Cplane1
|
UTSW |
15 |
8,245,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2913:Cplane1
|
UTSW |
15 |
8,300,169 (GRCm39) |
missense |
unknown |
|
R3056:Cplane1
|
UTSW |
15 |
8,280,491 (GRCm39) |
missense |
unknown |
|
R3706:Cplane1
|
UTSW |
15 |
8,289,300 (GRCm39) |
missense |
unknown |
|
R3707:Cplane1
|
UTSW |
15 |
8,289,300 (GRCm39) |
missense |
unknown |
|
R3870:Cplane1
|
UTSW |
15 |
8,247,948 (GRCm39) |
missense |
probably damaging |
0.98 |
R3877:Cplane1
|
UTSW |
15 |
8,251,427 (GRCm39) |
missense |
probably benign |
|
R3886:Cplane1
|
UTSW |
15 |
8,201,289 (GRCm39) |
missense |
probably damaging |
0.98 |
R4057:Cplane1
|
UTSW |
15 |
8,248,509 (GRCm39) |
missense |
probably benign |
0.08 |
R4090:Cplane1
|
UTSW |
15 |
8,241,842 (GRCm39) |
splice site |
probably null |
|
R4362:Cplane1
|
UTSW |
15 |
8,300,229 (GRCm39) |
missense |
unknown |
|
R4363:Cplane1
|
UTSW |
15 |
8,300,229 (GRCm39) |
missense |
unknown |
|
R4445:Cplane1
|
UTSW |
15 |
8,281,672 (GRCm39) |
missense |
unknown |
|
R4581:Cplane1
|
UTSW |
15 |
8,201,282 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4587:Cplane1
|
UTSW |
15 |
8,230,636 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4659:Cplane1
|
UTSW |
15 |
8,245,760 (GRCm39) |
intron |
probably benign |
|
R4663:Cplane1
|
UTSW |
15 |
8,247,939 (GRCm39) |
missense |
probably benign |
0.31 |
R4779:Cplane1
|
UTSW |
15 |
8,248,322 (GRCm39) |
missense |
probably benign |
0.04 |
R4850:Cplane1
|
UTSW |
15 |
8,292,422 (GRCm39) |
missense |
unknown |
|
R4896:Cplane1
|
UTSW |
15 |
8,251,421 (GRCm39) |
missense |
probably benign |
0.00 |
R5273:Cplane1
|
UTSW |
15 |
8,292,422 (GRCm39) |
missense |
unknown |
|
R5273:Cplane1
|
UTSW |
15 |
8,273,825 (GRCm39) |
missense |
probably damaging |
0.98 |
R5303:Cplane1
|
UTSW |
15 |
8,290,174 (GRCm39) |
splice site |
probably null |
|
R5307:Cplane1
|
UTSW |
15 |
8,290,174 (GRCm39) |
splice site |
probably null |
|
R5308:Cplane1
|
UTSW |
15 |
8,290,174 (GRCm39) |
splice site |
probably null |
|
R5373:Cplane1
|
UTSW |
15 |
8,300,287 (GRCm39) |
missense |
unknown |
|
R5374:Cplane1
|
UTSW |
15 |
8,300,287 (GRCm39) |
missense |
unknown |
|
R5386:Cplane1
|
UTSW |
15 |
8,223,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Cplane1
|
UTSW |
15 |
8,258,319 (GRCm39) |
missense |
probably benign |
0.06 |
R5720:Cplane1
|
UTSW |
15 |
8,233,171 (GRCm39) |
missense |
probably benign |
0.35 |
R5891:Cplane1
|
UTSW |
15 |
8,218,073 (GRCm39) |
missense |
probably benign |
0.00 |
R5932:Cplane1
|
UTSW |
15 |
8,274,079 (GRCm39) |
splice site |
probably null |
|
R6053:Cplane1
|
UTSW |
15 |
8,217,945 (GRCm39) |
missense |
probably benign |
0.35 |
R6166:Cplane1
|
UTSW |
15 |
8,216,044 (GRCm39) |
missense |
probably benign |
0.00 |
R6245:Cplane1
|
UTSW |
15 |
8,207,902 (GRCm39) |
missense |
probably benign |
0.01 |
R6246:Cplane1
|
UTSW |
15 |
8,239,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R6541:Cplane1
|
UTSW |
15 |
8,248,779 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6622:Cplane1
|
UTSW |
15 |
8,273,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R6707:Cplane1
|
UTSW |
15 |
8,252,606 (GRCm39) |
missense |
probably benign |
0.39 |
R6729:Cplane1
|
UTSW |
15 |
8,218,085 (GRCm39) |
splice site |
probably null |
|
R6805:Cplane1
|
UTSW |
15 |
8,273,790 (GRCm39) |
missense |
probably benign |
0.07 |
R6806:Cplane1
|
UTSW |
15 |
8,216,342 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6813:Cplane1
|
UTSW |
15 |
8,258,766 (GRCm39) |
missense |
probably benign |
|
R6830:Cplane1
|
UTSW |
15 |
8,205,668 (GRCm39) |
missense |
probably benign |
0.04 |
R6845:Cplane1
|
UTSW |
15 |
8,251,388 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6894:Cplane1
|
UTSW |
15 |
8,216,852 (GRCm39) |
missense |
probably damaging |
0.99 |
R6970:Cplane1
|
UTSW |
15 |
8,217,032 (GRCm39) |
missense |
probably benign |
0.01 |
R6991:Cplane1
|
UTSW |
15 |
8,281,690 (GRCm39) |
missense |
unknown |
|
R7003:Cplane1
|
UTSW |
15 |
8,258,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R7088:Cplane1
|
UTSW |
15 |
8,248,431 (GRCm39) |
missense |
probably benign |
0.16 |
R7104:Cplane1
|
UTSW |
15 |
8,223,928 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7311:Cplane1
|
UTSW |
15 |
8,210,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R7374:Cplane1
|
UTSW |
15 |
8,276,731 (GRCm39) |
missense |
unknown |
|
R7446:Cplane1
|
UTSW |
15 |
8,261,564 (GRCm39) |
missense |
probably damaging |
0.98 |
R7539:Cplane1
|
UTSW |
15 |
8,230,728 (GRCm39) |
missense |
probably benign |
0.19 |
R7543:Cplane1
|
UTSW |
15 |
8,254,876 (GRCm39) |
missense |
unknown |
|
R7558:Cplane1
|
UTSW |
15 |
8,254,851 (GRCm39) |
missense |
unknown |
|
R7629:Cplane1
|
UTSW |
15 |
8,256,551 (GRCm39) |
nonsense |
probably null |
|
R7635:Cplane1
|
UTSW |
15 |
8,256,404 (GRCm39) |
missense |
probably benign |
0.01 |
R7644:Cplane1
|
UTSW |
15 |
8,252,611 (GRCm39) |
missense |
probably benign |
0.00 |
R7705:Cplane1
|
UTSW |
15 |
8,211,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R7752:Cplane1
|
UTSW |
15 |
8,299,190 (GRCm39) |
missense |
unknown |
|
R7754:Cplane1
|
UTSW |
15 |
8,273,310 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7757:Cplane1
|
UTSW |
15 |
8,281,711 (GRCm39) |
missense |
unknown |
|
R7836:Cplane1
|
UTSW |
15 |
8,233,241 (GRCm39) |
missense |
probably damaging |
0.97 |
R7875:Cplane1
|
UTSW |
15 |
8,239,446 (GRCm39) |
missense |
probably benign |
0.18 |
R7901:Cplane1
|
UTSW |
15 |
8,299,190 (GRCm39) |
missense |
unknown |
|
R7983:Cplane1
|
UTSW |
15 |
8,251,299 (GRCm39) |
missense |
probably benign |
0.01 |
R8030:Cplane1
|
UTSW |
15 |
8,259,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R8088:Cplane1
|
UTSW |
15 |
8,215,802 (GRCm39) |
missense |
probably benign |
0.00 |
R8231:Cplane1
|
UTSW |
15 |
8,248,511 (GRCm39) |
missense |
probably benign |
0.16 |
R8443:Cplane1
|
UTSW |
15 |
8,230,635 (GRCm39) |
missense |
probably benign |
0.03 |
R8480:Cplane1
|
UTSW |
15 |
8,216,942 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8693:Cplane1
|
UTSW |
15 |
8,258,492 (GRCm39) |
missense |
probably benign |
0.15 |
R8785:Cplane1
|
UTSW |
15 |
8,204,244 (GRCm39) |
missense |
probably benign |
0.39 |
R8791:Cplane1
|
UTSW |
15 |
8,216,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Cplane1
|
UTSW |
15 |
8,201,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R8831:Cplane1
|
UTSW |
15 |
8,211,620 (GRCm39) |
missense |
probably benign |
0.09 |
R8932:Cplane1
|
UTSW |
15 |
8,223,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Cplane1
|
UTSW |
15 |
8,230,765 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8973:Cplane1
|
UTSW |
15 |
8,233,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Cplane1
|
UTSW |
15 |
8,252,622 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9134:Cplane1
|
UTSW |
15 |
8,228,716 (GRCm39) |
missense |
probably damaging |
0.99 |
R9197:Cplane1
|
UTSW |
15 |
8,280,536 (GRCm39) |
missense |
unknown |
|
R9259:Cplane1
|
UTSW |
15 |
8,232,787 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9269:Cplane1
|
UTSW |
15 |
8,248,500 (GRCm39) |
missense |
probably damaging |
0.97 |
R9294:Cplane1
|
UTSW |
15 |
8,232,811 (GRCm39) |
missense |
probably benign |
0.00 |
R9328:Cplane1
|
UTSW |
15 |
8,215,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9563:Cplane1
|
UTSW |
15 |
8,216,563 (GRCm39) |
missense |
probably benign |
0.20 |
R9680:Cplane1
|
UTSW |
15 |
8,231,785 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9721:Cplane1
|
UTSW |
15 |
8,254,893 (GRCm39) |
missense |
unknown |
|
R9779:Cplane1
|
UTSW |
15 |
8,230,786 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9780:Cplane1
|
UTSW |
15 |
8,258,123 (GRCm39) |
missense |
probably benign |
0.00 |
U24488:Cplane1
|
UTSW |
15 |
8,211,694 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Cplane1
|
UTSW |
15 |
8,276,515 (GRCm39) |
missense |
unknown |
|
Z1177:Cplane1
|
UTSW |
15 |
8,239,473 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Cplane1
|
UTSW |
15 |
8,204,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCATTAAGCAGTAGTCACCCTG -3'
(R):5'- CCAAGTTTATGTGCCATCCAC -3'
Sequencing Primer
(F):5'- AGCAGTAGTCACCCTGATTTTTG -3'
(R):5'- CACAGCCTCTGGAATCAGG -3'
|
Posted On |
2016-02-04 |