Incidental Mutation 'R5386:Cplane1'
| ID |
425281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cplane1
|
| Ensembl Gene |
ENSMUSG00000039801 |
| Gene Name |
ciliogenesis and planar polarity effector 1 |
| Synonyms |
Hug, 2410089E03Rik, b2b012Clo, Jbts17 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
8198590-8300642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8223897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 887
(G887R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110617]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110617
AA Change: G887R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106247
Gene: ENSMUSG00000039801
AA Change: G887R
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 134 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
G |
8: 87,244,118 (GRCm39) |
K1012Q |
possibly damaging |
Het |
| Afmid |
G |
A |
11: 117,718,968 (GRCm39) |
G33R |
probably benign |
Het |
| Agbl3 |
G |
T |
6: 34,776,131 (GRCm39) |
W207C |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,855 (GRCm39) |
Y459C |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,901,965 (GRCm39) |
S213P |
probably benign |
Het |
| Alk |
T |
A |
17: 72,182,007 (GRCm39) |
N1339Y |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,301,761 (GRCm39) |
S416G |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,775,582 (GRCm39) |
V854M |
probably benign |
Het |
| Ankrd61 |
G |
T |
5: 143,828,482 (GRCm39) |
N122K |
possibly damaging |
Het |
| Armc9 |
T |
A |
1: 86,126,011 (GRCm39) |
L34Q |
probably null |
Het |
| Aspg |
T |
A |
12: 112,089,466 (GRCm39) |
V418E |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,266,913 (GRCm39) |
R1241C |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,338 (GRCm39) |
V201A |
possibly damaging |
Het |
| C1ql3 |
A |
T |
2: 13,009,169 (GRCm39) |
D225E |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,279 (GRCm39) |
T417A |
possibly damaging |
Het |
| Card14 |
C |
T |
11: 119,208,115 (GRCm39) |
R62C |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,887,383 (GRCm39) |
N1271S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,920,326 (GRCm39) |
S647N |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,232,429 (GRCm39) |
K133R |
possibly damaging |
Het |
| Cep128 |
A |
C |
12: 90,966,345 (GRCm39) |
S1087R |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,163,128 (GRCm39) |
L325Q |
probably damaging |
Het |
| Chit1 |
T |
G |
1: 134,077,192 (GRCm39) |
F332V |
probably damaging |
Het |
| Chodl |
C |
A |
16: 78,743,585 (GRCm39) |
T219K |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,158,765 (GRCm39) |
L10P |
possibly damaging |
Het |
| Copg1 |
G |
T |
6: 87,867,189 (GRCm39) |
M87I |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,022,578 (GRCm39) |
Y28C |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,407,236 (GRCm39) |
V2119G |
probably damaging |
Het |
| Dedd |
T |
C |
1: 171,165,951 (GRCm39) |
L23P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,286,041 (GRCm39) |
S2715P |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,920,182 (GRCm39) |
N2237S |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,842,207 (GRCm39) |
I337V |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,125,617 (GRCm39) |
V330A |
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,924,587 (GRCm39) |
*322W |
probably null |
Het |
| Dusp8 |
T |
A |
7: 141,643,730 (GRCm39) |
Q61L |
possibly damaging |
Het |
| Ears2 |
G |
C |
7: 121,643,600 (GRCm39) |
T426S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,380 (GRCm39) |
Y646H |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,178,422 (GRCm39) |
I220K |
possibly damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam171a2 |
C |
A |
11: 102,328,693 (GRCm39) |
V689L |
possibly damaging |
Het |
| Fam91a1 |
G |
A |
15: 58,320,243 (GRCm39) |
S645N |
probably benign |
Het |
| Fancg |
G |
A |
4: 43,007,076 (GRCm39) |
Q234* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,941,813 (GRCm39) |
F120L |
probably damaging |
Het |
| Gid4 |
T |
A |
11: 60,323,268 (GRCm39) |
|
probably null |
Het |
| Gm7361 |
A |
C |
5: 26,463,903 (GRCm39) |
T53P |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,732,677 (GRCm39) |
C641* |
probably null |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,399,053 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,768,671 (GRCm39) |
V64E |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,908,089 (GRCm39) |
I243K |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,203,548 (GRCm39) |
A750V |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,092,967 (GRCm39) |
E590G |
possibly damaging |
Het |
| Herc3 |
T |
A |
6: 58,851,263 (GRCm39) |
M504K |
probably damaging |
Het |
| Hif1a |
A |
G |
12: 73,990,867 (GRCm39) |
E713G |
probably benign |
Het |
| Hmx3 |
A |
G |
7: 131,146,033 (GRCm39) |
D247G |
probably damaging |
Het |
| Hoxd11 |
G |
T |
2: 74,513,163 (GRCm39) |
E143* |
probably null |
Het |
| Ifitm3 |
T |
C |
7: 140,590,554 (GRCm39) |
N2S |
probably benign |
Het |
| Il17f |
T |
C |
1: 20,848,181 (GRCm39) |
Q99R |
probably benign |
Het |
| Itga6 |
T |
A |
2: 71,671,494 (GRCm39) |
S341R |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,707,152 (GRCm39) |
N661S |
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,937,464 (GRCm39) |
H303Q |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,033,023 (GRCm39) |
N103K |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,291,636 (GRCm39) |
|
probably benign |
Het |
| Keg1 |
A |
C |
19: 12,691,902 (GRCm39) |
N63T |
probably damaging |
Het |
| Klf12 |
T |
A |
14: 100,137,595 (GRCm39) |
H317L |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,427,983 (GRCm39) |
V530E |
probably damaging |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,629 (GRCm39) |
C190R |
probably damaging |
Het |
| Myo1a |
G |
T |
10: 127,541,766 (GRCm39) |
E102* |
probably null |
Het |
| Napa |
A |
T |
7: 15,850,397 (GRCm39) |
E265D |
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,476,174 (GRCm39) |
V305G |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,061,263 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
C |
T |
2: 87,082,827 (GRCm39) |
P182L |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
| Or4a70 |
G |
T |
2: 89,324,481 (GRCm39) |
Y58* |
probably null |
Het |
| Or4f52 |
T |
C |
2: 111,061,539 (GRCm39) |
T200A |
probably benign |
Het |
| Or52a20 |
T |
C |
7: 103,366,562 (GRCm39) |
F254L |
probably benign |
Het |
| Or5ak4 |
T |
C |
2: 85,161,979 (GRCm39) |
T88A |
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
| Or8c11 |
A |
T |
9: 38,289,281 (GRCm39) |
I29F |
probably benign |
Het |
| Or8g2b |
A |
G |
9: 39,751,126 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,188,790 (GRCm39) |
Q417R |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,580,320 (GRCm39) |
M11K |
probably damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pdcd7 |
G |
A |
9: 65,265,974 (GRCm39) |
W477* |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,078,954 (GRCm39) |
S5N |
probably damaging |
Het |
| Plag1 |
T |
A |
4: 3,904,075 (GRCm39) |
Q372L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,748,535 (GRCm39) |
N1755K |
probably damaging |
Het |
| Pld4 |
G |
T |
12: 112,730,422 (GRCm39) |
E102* |
probably null |
Het |
| Pnlip |
A |
G |
19: 58,668,039 (GRCm39) |
N345S |
probably benign |
Het |
| Ppm1e |
A |
T |
11: 87,249,377 (GRCm39) |
L118Q |
possibly damaging |
Het |
| Prkra |
T |
G |
2: 76,469,622 (GRCm39) |
T146P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,625 (GRCm39) |
D1038G |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
| Prxl2b |
T |
A |
4: 154,983,462 (GRCm39) |
M1L |
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,692,857 (GRCm39) |
Y181H |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,244,527 (GRCm39) |
V817A |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,818,985 (GRCm39) |
Q1403K |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,482,469 (GRCm39) |
I882F |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,242,185 (GRCm39) |
V618A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,816,841 (GRCm39) |
I65N |
probably damaging |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Serpine2 |
A |
T |
1: 79,799,004 (GRCm39) |
Y83* |
probably null |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,892,200 (GRCm39) |
V256A |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,523 (GRCm39) |
C894* |
probably null |
Het |
| Slc14a2 |
T |
A |
18: 78,229,055 (GRCm39) |
D306V |
possibly damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,353,259 (GRCm39) |
L480I |
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 62,120,402 (GRCm39) |
E843V |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,280,982 (GRCm39) |
C152S |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,552,952 (GRCm39) |
Y32H |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,968,580 (GRCm39) |
T558A |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,866,866 (GRCm39) |
C1338Y |
possibly damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,127 (GRCm39) |
I309K |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,531,111 (GRCm39) |
E2456G |
probably damaging |
Het |
| Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,881,887 (GRCm39) |
V152A |
probably damaging |
Het |
| Tedc1 |
T |
C |
12: 113,120,302 (GRCm39) |
V47A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,105,774 (GRCm39) |
L82Q |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,885,559 (GRCm39) |
Y367C |
probably damaging |
Het |
| Tle1 |
C |
T |
4: 72,060,081 (GRCm39) |
V258M |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
| Tmco2 |
A |
G |
4: 120,963,181 (GRCm39) |
L106P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,911,639 (GRCm39) |
C103S |
possibly damaging |
Het |
| Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
| Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
| Trmt6 |
C |
A |
2: 132,650,703 (GRCm39) |
A302S |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,133,985 (GRCm39) |
W1067R |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,286,568 (GRCm39) |
V1532D |
probably damaging |
Het |
| Ubqlnl |
T |
G |
7: 103,798,424 (GRCm39) |
I358L |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,498,023 (GRCm39) |
I108N |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,674 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,389,365 (GRCm39) |
K68E |
possibly damaging |
Het |
| Zfp746 |
G |
T |
6: 48,041,110 (GRCm39) |
H538N |
possibly damaging |
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 |
|
R4812:Cplane1
|
UTSW |
15 |
8,230,607 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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'- CCCGCATGTCATAATGGTATAACTTG -3'
(R):5'- AACTTAGCTACTGTAAAGGCAAGG -3'
Sequencing Primer
(F):5'- GATGAATTTGCACAAATATCACACAG -3'
(R):5'- CTATTAAGTCAGTGGGATGGCAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation