Incidental Mutation 'R1848:Rp1'
| ID |
207839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rp1
|
| Ensembl Gene |
ENSMUSG00000025900 |
| Gene Name |
retinitis pigmentosa 1 (human) |
| Synonyms |
Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h |
| MMRRC Submission |
039873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1848 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
3999557-4409241 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4347232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1219
(Y1219F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027032]
[ENSMUST00000194992]
[ENSMUST00000208660]
|
| AlphaFold |
P56716 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027032
AA Change: Y1219F
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027032
Gene: ENSMUSG00000025900
AA Change: Y1219F
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
30 |
117 |
4.37e-39 |
SMART |
|
low complexity region
|
120 |
133 |
N/A |
INTRINSIC |
|
DCX
|
152 |
236 |
7.17e-35 |
SMART |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1123 |
N/A |
INTRINSIC |
|
low complexity region
|
1396 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1434 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194992
|
| SMART Domains |
Protein: ENSMUSP00000142146
Gene: ENSMUSG00000025900
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
40 |
127 |
4.37e-39 |
SMART |
|
low complexity region
|
130 |
143 |
N/A |
INTRINSIC |
|
DCX
|
162 |
246 |
7.17e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208793
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
98% (120/123) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
C |
A |
8: 87,568,493 (GRCm38) |
Y86* |
probably null |
Het |
| Aadac |
A |
G |
3: 60,039,697 (GRCm38) |
E272G |
probably damaging |
Het |
| Abcc8 |
A |
T |
7: 46,166,902 (GRCm38) |
D271E |
probably benign |
Het |
| Acan |
T |
C |
7: 79,099,035 (GRCm38) |
F1185L |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,519,620 (GRCm38) |
C537S |
probably damaging |
Het |
| Ago2 |
A |
G |
15: 73,123,965 (GRCm38) |
V395A |
probably benign |
Het |
| Alox15 |
A |
G |
11: 70,350,752 (GRCm38) |
V101A |
probably damaging |
Het |
| Ankra2 |
T |
C |
13: 98,271,124 (GRCm38) |
I194T |
probably damaging |
Het |
| Apobec4 |
C |
A |
1: 152,756,230 (GRCm38) |
P3H |
probably damaging |
Het |
| Arid3b |
G |
T |
9: 57,796,677 (GRCm38) |
Y329* |
probably null |
Het |
| Atm |
A |
T |
9: 53,468,012 (GRCm38) |
S1993T |
probably benign |
Het |
| Bpgm |
T |
G |
6: 34,487,734 (GRCm38) |
S129A |
probably benign |
Het |
| Brat1 |
A |
G |
5: 140,718,509 (GRCm38) |
D839G |
possibly damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,342,570 (GRCm38) |
S128T |
probably benign |
Het |
| Cd300lg |
A |
T |
11: 102,046,206 (GRCm38) |
|
probably benign |
Het |
| Cdc34b |
C |
A |
11: 94,742,477 (GRCm38) |
Q168K |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,401,310 (GRCm38) |
V1767E |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,953,651 (GRCm38) |
D169G |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,969,565 (GRCm38) |
D1762V |
possibly damaging |
Het |
| Coro7 |
A |
G |
16: 4,630,434 (GRCm38) |
L724P |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,237,012 (GRCm38) |
I1125F |
probably damaging |
Het |
| Ctif |
T |
A |
18: 75,519,941 (GRCm38) |
D415V |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
| Dhrs2 |
A |
G |
14: 55,240,841 (GRCm38) |
D237G |
probably benign |
Het |
| Dhx9 |
T |
C |
1: 153,465,753 (GRCm38) |
Q582R |
probably damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,219,713 (GRCm38) |
R443Q |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,505,681 (GRCm38) |
R837W |
possibly damaging |
Het |
| Dpf2 |
C |
A |
19: 5,906,615 (GRCm38) |
Q70H |
probably damaging |
Het |
| Dqx1 |
T |
A |
6: 83,066,107 (GRCm38) |
D608E |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,049,166 (GRCm38) |
T3245S |
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,200,033 (GRCm38) |
L35P |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,103,306 (GRCm38) |
L1285Q |
probably damaging |
Het |
| Eif4g1 |
G |
C |
16: 20,681,867 (GRCm38) |
R697P |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,600,821 (GRCm38) |
E753V |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,558,419 (GRCm38) |
I227M |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,089,998 (GRCm38) |
V103E |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,912,010 (GRCm38) |
D337G |
probably benign |
Het |
| Fam129c |
T |
C |
8: 71,603,769 (GRCm38) |
M371T |
possibly damaging |
Het |
| Fam83e |
A |
T |
7: 45,728,769 (GRCm38) |
K406* |
probably null |
Het |
| Fam83e |
A |
T |
7: 45,728,770 (GRCm38) |
K406M |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,311,558 (GRCm38) |
I230T |
probably damaging |
Het |
| Fbxl16 |
A |
G |
17: 25,816,446 (GRCm38) |
I6V |
probably benign |
Het |
| Fgf23 |
T |
C |
6: 127,073,193 (GRCm38) |
I55T |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,821,549 (GRCm38) |
D288V |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,892,113 (GRCm38) |
I594T |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,739,823 (GRCm38) |
E449G |
probably benign |
Het |
| Gbf1 |
T |
G |
19: 46,272,037 (GRCm38) |
S1130A |
possibly damaging |
Het |
| Gipc3 |
T |
C |
10: 81,341,265 (GRCm38) |
E157G |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 55,940,907 (GRCm38) |
A18S |
probably benign |
Het |
| Gm6625 |
A |
C |
8: 89,146,834 (GRCm38) |
|
noncoding transcript |
Het |
| Gpx4 |
A |
G |
10: 80,056,036 (GRCm38) |
|
probably benign |
Het |
| Grb10 |
A |
G |
11: 11,946,029 (GRCm38) |
F264L |
possibly damaging |
Het |
| Grik3 |
T |
C |
4: 125,694,138 (GRCm38) |
Y684H |
probably damaging |
Het |
| Gstp1 |
C |
T |
19: 4,036,795 (GRCm38) |
|
probably benign |
Het |
| Haus8 |
G |
A |
8: 71,256,123 (GRCm38) |
|
probably benign |
Het |
| Hip1 |
G |
A |
5: 135,435,141 (GRCm38) |
|
probably null |
Het |
| Hist3h2ba |
A |
T |
11: 58,949,102 (GRCm38) |
I55F |
possibly damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,818,764 (GRCm38) |
|
probably null |
Het |
| Htr2b |
T |
A |
1: 86,099,429 (GRCm38) |
I452F |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 110,569,808 (GRCm38) |
H3656Q |
probably benign |
Het |
| Klb |
T |
A |
5: 65,348,837 (GRCm38) |
D142E |
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,334,616 (GRCm38) |
T777S |
possibly damaging |
Het |
| Lins1 |
C |
A |
7: 66,714,322 (GRCm38) |
T650K |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,281,971 (GRCm38) |
K5R |
possibly damaging |
Het |
| Lpp |
G |
A |
16: 24,761,655 (GRCm38) |
M40I |
probably damaging |
Het |
| Mia2 |
A |
T |
12: 59,170,251 (GRCm38) |
|
probably benign |
Het |
| Miip |
A |
C |
4: 147,863,092 (GRCm38) |
F204V |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,677,153 (GRCm38) |
R323G |
probably benign |
Het |
| Mta3 |
T |
A |
17: 83,755,551 (GRCm38) |
|
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,213,630 (GRCm38) |
K1004R |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,632,429 (GRCm38) |
I810F |
probably damaging |
Het |
| Nbas |
A |
C |
12: 13,413,597 (GRCm38) |
D1295A |
probably damaging |
Het |
| Npr2 |
T |
G |
4: 43,632,384 (GRCm38) |
V67G |
probably benign |
Het |
| Oas1f |
C |
A |
5: 120,855,429 (GRCm38) |
Q235K |
probably damaging |
Het |
| Olfr109 |
T |
A |
17: 37,467,047 (GRCm38) |
S280R |
probably damaging |
Het |
| Olfr59 |
G |
T |
11: 74,289,213 (GRCm38) |
C189F |
probably damaging |
Het |
| Olfr60 |
T |
A |
7: 140,345,987 (GRCm38) |
M1L |
probably benign |
Het |
| Olfr629 |
T |
C |
7: 103,741,174 (GRCm38) |
N22S |
probably benign |
Het |
| Olfr857 |
C |
T |
9: 19,713,090 (GRCm38) |
H88Y |
probably benign |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,425,541 (GRCm38) |
|
probably null |
Het |
| Pde1b |
A |
G |
15: 103,525,340 (GRCm38) |
|
probably null |
Het |
| Pdilt |
T |
C |
7: 119,489,384 (GRCm38) |
T465A |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,966,546 (GRCm38) |
H1233R |
probably damaging |
Het |
| Ppm1b |
T |
A |
17: 84,994,124 (GRCm38) |
M144K |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,808,058 (GRCm38) |
L3316S |
probably benign |
Het |
| Prm2 |
T |
A |
16: 10,791,591 (GRCm38) |
|
probably benign |
Het |
| Prmt7 |
T |
C |
8: 106,237,008 (GRCm38) |
V240A |
probably benign |
Het |
| Prx |
C |
A |
7: 27,518,888 (GRCm38) |
A938E |
possibly damaging |
Het |
| Rbm7 |
A |
G |
9: 48,490,894 (GRCm38) |
V131A |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,600,813 (GRCm38) |
|
probably null |
Het |
| Rnf150 |
A |
T |
8: 82,864,010 (GRCm38) |
M1L |
possibly damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,628 (GRCm38) |
R298W |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,684,013 (GRCm38) |
|
probably null |
Het |
| Sdad1 |
A |
G |
5: 92,292,651 (GRCm38) |
|
probably null |
Het |
| Sept9 |
T |
C |
11: 117,353,083 (GRCm38) |
|
probably benign |
Het |
| Serinc3 |
T |
C |
2: 163,645,489 (GRCm38) |
|
probably benign |
Het |
| Shc3 |
C |
T |
13: 51,461,388 (GRCm38) |
G178R |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,316,606 (GRCm38) |
K1090M |
probably damaging |
Het |
| Slco1a1 |
T |
C |
6: 141,923,111 (GRCm38) |
I376V |
probably benign |
Het |
| Slmap |
A |
T |
14: 26,422,574 (GRCm38) |
F719L |
probably benign |
Het |
| Smgc |
A |
G |
15: 91,859,758 (GRCm38) |
N573D |
possibly damaging |
Het |
| Spx |
G |
A |
6: 142,414,079 (GRCm38) |
|
probably null |
Het |
| Srrt |
C |
G |
5: 137,296,945 (GRCm38) |
E308Q |
probably damaging |
Het |
| Tas2r130 |
T |
A |
6: 131,630,597 (GRCm38) |
R78S |
probably benign |
Het |
| Tchhl1 |
A |
G |
3: 93,471,101 (GRCm38) |
R371G |
probably damaging |
Het |
| Teddm2 |
C |
T |
1: 153,850,448 (GRCm38) |
A174T |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,512,347 (GRCm38) |
V186M |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,324,640 (GRCm38) |
|
probably benign |
Het |
| Tspan31 |
A |
G |
10: 127,069,458 (GRCm38) |
V40A |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,945,227 (GRCm38) |
|
probably benign |
Het |
| Vcl |
G |
T |
14: 21,008,995 (GRCm38) |
A560S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,816,224 (GRCm38) |
C837S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,428,107 (GRCm38) |
V212M |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,936,340 (GRCm38) |
T1968A |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,500,567 (GRCm38) |
R269G |
probably damaging |
Het |
| Wdcp |
G |
A |
12: 4,850,245 (GRCm38) |
V34I |
possibly damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,752,832 (GRCm38) |
D152G |
possibly damaging |
Het |
| Zfp189 |
C |
T |
4: 49,529,266 (GRCm38) |
P123L |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,406,055 (GRCm38) |
S1038P |
possibly damaging |
Het |
| Zfp873 |
A |
G |
10: 82,060,572 (GRCm38) |
D416G |
probably benign |
Het |
|
| Other mutations in Rp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Rp1
|
APN |
1 |
4,346,746 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00593:Rp1
|
APN |
1 |
4,345,403 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL00956:Rp1
|
APN |
1 |
4,352,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01070:Rp1
|
APN |
1 |
4,345,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01531:Rp1
|
APN |
1 |
4,348,945 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01668:Rp1
|
APN |
1 |
4,345,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01907:Rp1
|
APN |
1 |
4,348,507 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02055:Rp1
|
APN |
1 |
4,352,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02071:Rp1
|
APN |
1 |
4,345,310 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02128:Rp1
|
APN |
1 |
4,347,385 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02244:Rp1
|
APN |
1 |
4,348,780 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02381:Rp1
|
APN |
1 |
4,352,390 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02499:Rp1
|
APN |
1 |
4,349,048 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02619:Rp1
|
APN |
1 |
4,348,450 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02832:Rp1
|
APN |
1 |
4,349,713 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02861:Rp1
|
APN |
1 |
4,346,152 (GRCm38) |
nonsense |
probably null |
|
|
IGL03288:Rp1
|
APN |
1 |
4,349,524 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03290:Rp1
|
APN |
1 |
4,350,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03303:Rp1
|
APN |
1 |
4,344,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0041:Rp1
|
UTSW |
1 |
4,344,628 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0111:Rp1
|
UTSW |
1 |
4,344,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0363:Rp1
|
UTSW |
1 |
4,347,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0440:Rp1
|
UTSW |
1 |
4,345,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0442:Rp1
|
UTSW |
1 |
4,346,747 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0528:Rp1
|
UTSW |
1 |
4,344,865 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0586:Rp1
|
UTSW |
1 |
4,347,837 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0639:Rp1
|
UTSW |
1 |
4,346,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0856:Rp1
|
UTSW |
1 |
4,344,655 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0908:Rp1
|
UTSW |
1 |
4,344,655 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0968:Rp1
|
UTSW |
1 |
4,345,352 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1099:Rp1
|
UTSW |
1 |
4,352,290 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R1242:Rp1
|
UTSW |
1 |
4,344,962 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1301:Rp1
|
UTSW |
1 |
4,345,936 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1327:Rp1
|
UTSW |
1 |
4,347,970 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1403:Rp1
|
UTSW |
1 |
4,346,297 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1403:Rp1
|
UTSW |
1 |
4,346,297 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1406:Rp1
|
UTSW |
1 |
4,351,921 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1406:Rp1
|
UTSW |
1 |
4,351,921 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1440:Rp1
|
UTSW |
1 |
4,347,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1509:Rp1
|
UTSW |
1 |
4,348,537 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1509:Rp1
|
UTSW |
1 |
4,347,694 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1538:Rp1
|
UTSW |
1 |
4,345,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1609:Rp1
|
UTSW |
1 |
4,349,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1666:Rp1
|
UTSW |
1 |
4,349,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1703:Rp1
|
UTSW |
1 |
4,345,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1782:Rp1
|
UTSW |
1 |
4,349,089 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1799:Rp1
|
UTSW |
1 |
4,348,832 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1908:Rp1
|
UTSW |
1 |
4,348,720 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1919:Rp1
|
UTSW |
1 |
4,352,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2087:Rp1
|
UTSW |
1 |
4,348,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2211:Rp1
|
UTSW |
1 |
4,348,139 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2278:Rp1
|
UTSW |
1 |
4,348,027 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2287:Rp1
|
UTSW |
1 |
4,345,959 (GRCm38) |
nonsense |
probably null |
|
|
R2316:Rp1
|
UTSW |
1 |
4,345,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2346:Rp1
|
UTSW |
1 |
4,348,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2878:Rp1
|
UTSW |
1 |
4,348,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3023:Rp1
|
UTSW |
1 |
4,352,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3025:Rp1
|
UTSW |
1 |
4,352,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Rp1
|
UTSW |
1 |
4,349,765 (GRCm38) |
missense |
probably benign |
0.38 |
|
R3814:Rp1
|
UTSW |
1 |
4,349,708 (GRCm38) |
missense |
probably benign |
|
|
R3929:Rp1
|
UTSW |
1 |
4,352,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4064:Rp1
|
UTSW |
1 |
4,345,400 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4426:Rp1
|
UTSW |
1 |
4,347,924 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4557:Rp1
|
UTSW |
1 |
4,344,663 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4764:Rp1
|
UTSW |
1 |
4,345,878 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4845:Rp1
|
UTSW |
1 |
4,349,228 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4850:Rp1
|
UTSW |
1 |
4,348,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Rp1
|
UTSW |
1 |
4,352,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Rp1
|
UTSW |
1 |
4,352,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5159:Rp1
|
UTSW |
1 |
4,346,203 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5226:Rp1
|
UTSW |
1 |
4,348,033 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5327:Rp1
|
UTSW |
1 |
4,349,360 (GRCm38) |
splice site |
probably null |
|
|
R5352:Rp1
|
UTSW |
1 |
4,347,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5504:Rp1
|
UTSW |
1 |
4,349,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5527:Rp1
|
UTSW |
1 |
4,346,393 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5529:Rp1
|
UTSW |
1 |
4,345,832 (GRCm38) |
missense |
probably benign |
0.42 |
|
R5569:Rp1
|
UTSW |
1 |
4,345,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5622:Rp1
|
UTSW |
1 |
4,347,837 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5970:Rp1
|
UTSW |
1 |
4,348,462 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5992:Rp1
|
UTSW |
1 |
4,148,703 (GRCm38) |
missense |
unknown |
|
|
R6004:Rp1
|
UTSW |
1 |
4,197,585 (GRCm38) |
missense |
unknown |
|
|
R6018:Rp1
|
UTSW |
1 |
4,352,836 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6074:Rp1
|
UTSW |
1 |
4,345,379 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6127:Rp1
|
UTSW |
1 |
4,349,311 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6187:Rp1
|
UTSW |
1 |
4,349,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6301:Rp1
|
UTSW |
1 |
4,347,254 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6317:Rp1
|
UTSW |
1 |
4,041,989 (GRCm38) |
missense |
unknown |
|
|
R6405:Rp1
|
UTSW |
1 |
4,345,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6445:Rp1
|
UTSW |
1 |
4,226,617 (GRCm38) |
missense |
unknown |
|
|
R6466:Rp1
|
UTSW |
1 |
4,347,886 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6501:Rp1
|
UTSW |
1 |
4,311,280 (GRCm38) |
intron |
probably benign |
|
|
R6547:Rp1
|
UTSW |
1 |
4,170,305 (GRCm38) |
missense |
unknown |
|
|
R6604:Rp1
|
UTSW |
1 |
4,019,128 (GRCm38) |
missense |
unknown |
|
|
R6700:Rp1
|
UTSW |
1 |
4,349,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6706:Rp1
|
UTSW |
1 |
4,142,664 (GRCm38) |
missense |
unknown |
|
|
R6831:Rp1
|
UTSW |
1 |
4,349,864 (GRCm38) |
splice site |
probably null |
|
|
R6918:Rp1
|
UTSW |
1 |
3,999,608 (GRCm38) |
missense |
unknown |
|
|
R6973:Rp1
|
UTSW |
1 |
4,351,994 (GRCm38) |
nonsense |
probably null |
|
|
R6981:Rp1
|
UTSW |
1 |
4,345,655 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7009:Rp1
|
UTSW |
1 |
4,042,068 (GRCm38) |
missense |
unknown |
|
|
R7078:Rp1
|
UTSW |
1 |
4,206,791 (GRCm38) |
missense |
unknown |
|
|
R7112:Rp1
|
UTSW |
1 |
4,349,018 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7135:Rp1
|
UTSW |
1 |
4,348,168 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7165:Rp1
|
UTSW |
1 |
4,349,917 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7199:Rp1
|
UTSW |
1 |
4,347,290 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7232:Rp1
|
UTSW |
1 |
4,228,601 (GRCm38) |
missense |
unknown |
|
|
R7367:Rp1
|
UTSW |
1 |
4,347,998 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7484:Rp1
|
UTSW |
1 |
4,345,481 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7500:Rp1
|
UTSW |
1 |
4,311,278 (GRCm38) |
missense |
unknown |
|
|
R7569:Rp1
|
UTSW |
1 |
4,284,840 (GRCm38) |
missense |
unknown |
|
|
R7642:Rp1
|
UTSW |
1 |
4,147,831 (GRCm38) |
missense |
unknown |
|
|
R7693:Rp1
|
UTSW |
1 |
4,347,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7742:Rp1
|
UTSW |
1 |
4,170,234 (GRCm38) |
missense |
unknown |
|
|
R7759:Rp1
|
UTSW |
1 |
4,344,884 (GRCm38) |
missense |
probably benign |
|
|
R7784:Rp1
|
UTSW |
1 |
4,142,658 (GRCm38) |
missense |
unknown |
|
|
R7816:Rp1
|
UTSW |
1 |
4,347,703 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7866:Rp1
|
UTSW |
1 |
4,347,701 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8215:Rp1
|
UTSW |
1 |
4,245,095 (GRCm38) |
missense |
unknown |
|
|
R8281:Rp1
|
UTSW |
1 |
4,347,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8294:Rp1
|
UTSW |
1 |
4,345,997 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8309:Rp1
|
UTSW |
1 |
4,347,089 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8311:Rp1
|
UTSW |
1 |
4,348,349 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8500:Rp1
|
UTSW |
1 |
4,346,590 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8559:Rp1
|
UTSW |
1 |
4,349,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8672:Rp1
|
UTSW |
1 |
4,348,784 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8688:Rp1
|
UTSW |
1 |
4,346,405 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8792:Rp1
|
UTSW |
1 |
4,024,868 (GRCm38) |
missense |
unknown |
|
|
R8859:Rp1
|
UTSW |
1 |
4,349,960 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8945:Rp1
|
UTSW |
1 |
4,349,594 (GRCm38) |
missense |
probably benign |
0.42 |
|
R8959:Rp1
|
UTSW |
1 |
4,349,427 (GRCm38) |
intron |
probably benign |
|
|
R8979:Rp1
|
UTSW |
1 |
4,148,714 (GRCm38) |
missense |
unknown |
|
|
R9126:Rp1
|
UTSW |
1 |
4,346,913 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9156:Rp1
|
UTSW |
1 |
4,163,938 (GRCm38) |
missense |
unknown |
|
|
R9160:Rp1
|
UTSW |
1 |
4,346,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9221:Rp1
|
UTSW |
1 |
4,245,043 (GRCm38) |
missense |
unknown |
|
|
R9263:Rp1
|
UTSW |
1 |
4,348,937 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9263:Rp1
|
UTSW |
1 |
4,348,452 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9302:Rp1
|
UTSW |
1 |
4,346,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9318:Rp1
|
UTSW |
1 |
4,348,265 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9414:Rp1
|
UTSW |
1 |
4,243,618 (GRCm38) |
missense |
unknown |
|
|
R9474:Rp1
|
UTSW |
1 |
4,092,615 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9478:Rp1
|
UTSW |
1 |
4,347,322 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9529:Rp1
|
UTSW |
1 |
4,346,224 (GRCm38) |
missense |
probably benign |
|
|
R9572:Rp1
|
UTSW |
1 |
4,348,439 (GRCm38) |
missense |
probably benign |
|
|
R9673:Rp1
|
UTSW |
1 |
4,267,569 (GRCm38) |
missense |
unknown |
|
|
R9709:Rp1
|
UTSW |
1 |
4,042,032 (GRCm38) |
missense |
unknown |
|
|
R9716:Rp1
|
UTSW |
1 |
4,142,610 (GRCm38) |
critical splice donor site |
probably null |
|
|
RF003:Rp1
|
UTSW |
1 |
4,344,694 (GRCm38) |
missense |
probably damaging |
0.99 |
|
V1662:Rp1
|
UTSW |
1 |
4,349,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0012:Rp1
|
UTSW |
1 |
4,347,695 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGCACAAGCCTCATGG -3'
(R):5'- ATCACAGAGGAAGCTGATGACTTG -3'
Sequencing Primer
(F):5'- GGGAATACACCCCATCTGTAAGG -3'
(R):5'- AGCTGATGACTTGAAGGCTGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation