Incidental Mutation 'R2142:Cntrl'
| ID |
236329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
040145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R2142 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAGAG to CAG
at 35012818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028235
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028237
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113032
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
|
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123884
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
400 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156933
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,523,957 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,107,290 (GRCm39) |
P640T |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,030,695 (GRCm39) |
E202G |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,263,777 (GRCm39) |
V77I |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,764,156 (GRCm39) |
T129A |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,059,871 (GRCm39) |
K236* |
probably null |
Het |
| Baz1b |
G |
A |
5: 135,246,129 (GRCm39) |
R526H |
probably damaging |
Het |
| Bltp3b |
A |
G |
10: 89,647,910 (GRCm39) |
D207G |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
G |
T |
11: 49,061,453 (GRCm39) |
|
probably null |
Het |
| Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
| Cdh8 |
C |
A |
8: 99,838,325 (GRCm39) |
C505F |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,151 (GRCm39) |
E697G |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,857,468 (GRCm39) |
I38F |
probably benign |
Het |
| Cfhr2 |
T |
G |
1: 139,758,893 (GRCm39) |
R52S |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,108,594 (GRCm39) |
F145S |
possibly damaging |
Het |
| Cnksr1 |
A |
G |
4: 133,956,939 (GRCm39) |
Y488H |
probably damaging |
Het |
| Col25a1 |
A |
G |
3: 130,363,965 (GRCm39) |
H546R |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,037,780 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Dck |
T |
C |
5: 88,920,582 (GRCm39) |
C101R |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,596,490 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
| Efnb1 |
A |
G |
X: 98,191,123 (GRCm39) |
Y343C |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,163,861 (GRCm39) |
V496A |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,873 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
G |
2: 125,254,628 (GRCm39) |
T212P |
possibly damaging |
Het |
| Fuca2 |
A |
G |
10: 13,381,609 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,667,198 (GRCm39) |
T307A |
probably benign |
Het |
| Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
| Glyatl3 |
T |
C |
17: 41,221,975 (GRCm39) |
D93G |
probably benign |
Het |
| Gm266 |
C |
T |
12: 111,451,615 (GRCm39) |
R197K |
possibly damaging |
Het |
| Gns |
G |
A |
10: 121,228,683 (GRCm39) |
R498H |
probably damaging |
Het |
| Gprasp1 |
G |
A |
X: 134,702,791 (GRCm39) |
E995K |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,177 (GRCm39) |
W335R |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,173 (GRCm39) |
E2379G |
probably benign |
Het |
| Hmx2 |
A |
T |
7: 131,157,588 (GRCm39) |
D234V |
probably damaging |
Het |
| Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
| Ipo9 |
CCT |
CCTTCT |
1: 135,314,020 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
TCC |
TCCGCC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
| Itpkc |
A |
G |
7: 26,919,075 (GRCm39) |
V397A |
possibly damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
| Kctd16 |
A |
G |
18: 40,392,231 (GRCm39) |
E273G |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,129,083 (GRCm39) |
T188A |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,163,848 (GRCm39) |
N732K |
probably benign |
Het |
| Laptm4b |
G |
T |
15: 34,238,478 (GRCm39) |
M3I |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,811,094 (GRCm39) |
N338S |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,008,095 (GRCm39) |
|
probably null |
Het |
| Micall1 |
T |
C |
15: 79,014,995 (GRCm39) |
Y751H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,297,321 (GRCm39) |
I2571T |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,339,903 (GRCm39) |
E20K |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,080,158 (GRCm39) |
E1124G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,714,194 (GRCm39) |
E87G |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,561,648 (GRCm39) |
|
probably null |
Het |
| Nipa1 |
C |
A |
7: 55,647,259 (GRCm39) |
|
probably null |
Het |
| Nrbp1 |
A |
G |
5: 31,405,273 (GRCm39) |
E287G |
possibly damaging |
Het |
| Nup188 |
T |
A |
2: 30,226,718 (GRCm39) |
I1165N |
possibly damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
| Or14j4 |
T |
G |
17: 37,921,362 (GRCm39) |
E93D |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,666 (GRCm39) |
I39V |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4k48 |
C |
A |
2: 111,475,566 (GRCm39) |
V259L |
probably benign |
Het |
| Or51a10 |
C |
T |
7: 103,699,507 (GRCm39) |
G18D |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,616 (GRCm39) |
K312E |
probably benign |
Het |
| Or9g3 |
C |
T |
2: 85,590,021 (GRCm39) |
R233H |
probably benign |
Het |
| Panx3 |
G |
C |
9: 37,577,969 (GRCm39) |
S87W |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,031,422 (GRCm39) |
D430V |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,176 (GRCm39) |
N169D |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,406,645 (GRCm39) |
G605V |
probably damaging |
Het |
| Phkg2 |
G |
A |
7: 127,181,386 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,594,119 (GRCm39) |
K1331N |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,818,019 (GRCm39) |
V762M |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,043 (GRCm39) |
|
probably null |
Het |
| Prb1a |
T |
A |
6: 132,184,166 (GRCm39) |
Q489L |
unknown |
Het |
| Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,770,998 (GRCm39) |
Y782C |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,314,210 (GRCm39) |
|
probably null |
Het |
| Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
Het |
| Rit2 |
A |
G |
18: 31,286,766 (GRCm39) |
F140L |
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
| Rorc |
G |
A |
3: 94,296,833 (GRCm39) |
R271Q |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,013,046 (GRCm39) |
M1130K |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,902,154 (GRCm39) |
E141G |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,974,568 (GRCm39) |
D195G |
probably benign |
Het |
| Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,308,645 (GRCm39) |
I272L |
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,321 (GRCm39) |
K210R |
probably benign |
Het |
| Tdpoz3 |
C |
T |
3: 93,734,206 (GRCm39) |
H294Y |
probably benign |
Het |
| Tesl1 |
T |
A |
X: 23,773,549 (GRCm39) |
V350E |
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,670 (GRCm39) |
T196A |
possibly damaging |
Het |
| Treh |
G |
A |
9: 44,592,438 (GRCm39) |
M54I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,257 (GRCm39) |
A157V |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
| Zfp281 |
GCGGCAGCTCCGGCAGC |
GCGGCAGCTCCGGCAGCTCCGGCAGC |
1: 136,553,091 (GRCm39) |
|
probably benign |
Het |
| Zfp473 |
T |
C |
7: 44,382,501 (GRCm39) |
T610A |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,213,653 (GRCm39) |
I4T |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,963,578 (GRCm39) |
N1918K |
probably damaging |
Het |
| Zfp65 |
G |
T |
13: 67,856,311 (GRCm39) |
H333N |
probably damaging |
Het |
|
| Other mutations in Cntrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Cntrl
|
UTSW |
2 |
35,059,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9036:Cntrl
|
UTSW |
2 |
35,016,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGCACTGTTCTGAGCATAC -3'
(R):5'- CAGTTCACAAAGCCCTTGTC -3'
Sequencing Primer
(F):5'- CACTGTTCTGAGCATACTTGATG -3'
(R):5'- ACAAAGCCCTTGTCCATGTTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation