Incidental Mutation 'R1457:Cntrl'
| ID |
158537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
039512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R1457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35012768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 302
(N302S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028235
AA Change: N302S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: N302S
| 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 benign
Transcript: ENSMUST00000028237
AA Change: N302S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: N302S
| 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 benign
Transcript: ENSMUST00000113032
AA Change: N302S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: N302S
| 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 benign
Transcript: ENSMUST00000156933
AA Change: N302S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: N302S
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,888,683 (GRCm39) |
I1210F |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,433,705 (GRCm39) |
H688R |
possibly damaging |
Het |
| Arhgap24 |
T |
A |
5: 102,811,972 (GRCm39) |
N66K |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,497,782 (GRCm39) |
G335D |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,381 (GRCm39) |
R488H |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,616,594 (GRCm39) |
V149E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,595 (GRCm39) |
P338Q |
probably benign |
Het |
| Cntln |
G |
T |
4: 85,015,076 (GRCm39) |
M1122I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,779,528 (GRCm39) |
R250G |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,665,093 (GRCm39) |
Y268* |
probably null |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,574 (GRCm39) |
P347L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,403,688 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,974,459 (GRCm39) |
V40I |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,860,448 (GRCm39) |
|
probably null |
Het |
| Fcrla |
A |
G |
1: 170,748,573 (GRCm39) |
L190P |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,635 (GRCm39) |
Y40* |
probably null |
Het |
| Gdf7 |
A |
T |
12: 8,348,073 (GRCm39) |
M416K |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,156 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
A |
19: 55,076,608 (GRCm39) |
N198Y |
probably damaging |
Het |
| Grip1 |
C |
T |
10: 119,822,255 (GRCm39) |
S327F |
possibly damaging |
Het |
| Hey2 |
C |
T |
10: 30,710,352 (GRCm39) |
A134T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,428,668 (GRCm39) |
I1341T |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,575,502 (GRCm39) |
L542P |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,064 (GRCm39) |
D234G |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,745,635 (GRCm39) |
I1273R |
probably damaging |
Het |
| Matn1 |
T |
A |
4: 130,677,330 (GRCm39) |
F180I |
possibly damaging |
Het |
| Meikin |
T |
A |
11: 54,261,767 (GRCm39) |
L61* |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,221,872 (GRCm39) |
I199T |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,139,287 (GRCm39) |
S535T |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,120,347 (GRCm39) |
M1715T |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,971 (GRCm39) |
V54D |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,992,748 (GRCm39) |
V286A |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,998 (GRCm39) |
K426E |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,098,279 (GRCm39) |
N1410K |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,971,269 (GRCm39) |
T399S |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,816 (GRCm39) |
K301* |
probably null |
Het |
| Or1af1 |
A |
C |
2: 37,109,671 (GRCm39) |
T57P |
possibly damaging |
Het |
| Or51a43 |
A |
T |
7: 103,717,666 (GRCm39) |
C191S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,278 (GRCm39) |
N283K |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,492 (GRCm39) |
V217I |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,028,596 (GRCm39) |
S167P |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,714,013 (GRCm39) |
|
probably null |
Het |
| Pde4b |
C |
T |
4: 102,462,373 (GRCm39) |
T511I |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,239,172 (GRCm39) |
|
probably null |
Het |
| Psmd12 |
G |
A |
11: 107,370,472 (GRCm39) |
V24M |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,598,272 (GRCm39) |
M170K |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,374,710 (GRCm39) |
T1064I |
possibly damaging |
Het |
| Ripor3 |
C |
T |
2: 167,834,573 (GRCm39) |
V281M |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,130,904 (GRCm39) |
Q1353K |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,054,965 (GRCm39) |
D383G |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,132,446 (GRCm39) |
T1346M |
probably damaging |
Het |
| Slx1b |
A |
T |
7: 126,291,968 (GRCm39) |
V63E |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,974 (GRCm39) |
D907G |
probably damaging |
Het |
| Src |
G |
A |
2: 157,311,132 (GRCm39) |
V401M |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 34,966,053 (GRCm39) |
K24E |
possibly damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,114 (GRCm39) |
K647R |
probably damaging |
Het |
| Tbl1xr1 |
G |
A |
3: 22,247,333 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
G |
A |
11: 105,147,778 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
A |
15: 99,299,496 (GRCm39) |
I3K |
probably benign |
Het |
| Tmeff2 |
A |
T |
1: 51,221,026 (GRCm39) |
I334F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,670,659 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
T |
A |
9: 57,821,894 (GRCm39) |
I81N |
probably damaging |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,433 (GRCm39) |
Y77C |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,890 (GRCm39) |
C217R |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,603,554 (GRCm39) |
T331A |
probably benign |
Het |
| Vmn1r65 |
A |
G |
7: 6,012,156 (GRCm39) |
V26A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,065,445 (GRCm39) |
V1241G |
possibly damaging |
Het |
| Wtap |
A |
C |
17: 13,200,631 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
C |
A |
4: 136,712,148 (GRCm39) |
A1187S |
possibly damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,990 (GRCm39) |
S20P |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,227 (GRCm39) |
D397G |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,676 (GRCm39) |
S165T |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,891 (GRCm39) |
T487I |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
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 |
|
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 |
|
|
R2142: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'- AGACTTGTTTTGCACTGTTCTGAGCAT -3'
(R):5'- CCTACAGTTCACAAAGCCCTTGTCC -3'
Sequencing Primer
(F):5'- CACTGTTCTGAGCATACTTGATG -3'
(R):5'- TCTTCCAATGCTACAGCAGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation