Incidental Mutation 'R2140:Cntrl'
ID |
236100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
040143-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R2140 (G1)
|
Quality Score |
217 |
Status
|
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: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (96/96) |
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: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
T |
C |
14: 4,348,902 (GRCm38) |
I21T |
probably damaging |
Het |
Adgrf1 |
A |
C |
17: 43,611,693 (GRCm39) |
E186D |
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 |
Agfg2 |
T |
A |
5: 137,665,378 (GRCm39) |
R126W |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,263,777 (GRCm39) |
V77I |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,015,419 (GRCm39) |
S381P |
probably benign |
Het |
Aqp2 |
A |
G |
15: 99,477,247 (GRCm39) |
T72A |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,779,302 (GRCm39) |
C1123R |
probably damaging |
Het |
AU016765 |
T |
A |
17: 64,826,995 (GRCm39) |
|
noncoding transcript |
Het |
Bscl2 |
T |
C |
19: 8,822,684 (GRCm39) |
|
probably null |
Het |
Ccdc80 |
A |
T |
16: 44,947,809 (GRCm39) |
Y929F |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,764,389 (GRCm39) |
D1341G |
probably damaging |
Het |
Cfap300 |
T |
C |
9: 8,022,478 (GRCm39) |
D248G |
probably damaging |
Het |
Cir1 |
A |
T |
2: 73,142,781 (GRCm39) |
S18T |
probably damaging |
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 |
Crb1 |
T |
C |
1: 139,164,750 (GRCm39) |
I1125V |
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,919,716 (GRCm39) |
V20D |
possibly damaging |
Het |
Dars1 |
T |
A |
1: 128,299,899 (GRCm39) |
M362L |
probably benign |
Het |
Dck |
T |
C |
5: 88,920,582 (GRCm39) |
C101R |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,972,545 (GRCm39) |
T2880A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,307,830 (GRCm39) |
M3048K |
probably damaging |
Het |
Eef1a2 |
C |
T |
2: 180,790,535 (GRCm39) |
E374K |
probably benign |
Het |
Eif3a |
A |
T |
19: 60,763,832 (GRCm39) |
|
probably benign |
Het |
Esco1 |
A |
G |
18: 10,574,873 (GRCm39) |
|
probably null |
Het |
Exoc8 |
C |
T |
8: 125,624,154 (GRCm39) |
R71Q |
possibly damaging |
Het |
Far1 |
G |
A |
7: 113,165,667 (GRCm39) |
V445M |
possibly damaging |
Het |
Fbn1 |
C |
A |
2: 125,185,730 (GRCm39) |
C1648F |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,425,393 (GRCm39) |
K1189R |
probably benign |
Het |
Foxl2 |
C |
A |
9: 98,838,540 (GRCm39) |
P276H |
unknown |
Het |
Fpr3 |
T |
A |
17: 18,190,879 (GRCm39) |
V50E |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,262,431 (GRCm39) |
R794S |
probably damaging |
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 |
Gm4787 |
A |
G |
12: 81,425,336 (GRCm39) |
I274T |
probably benign |
Het |
Gucy1a1 |
C |
T |
3: 82,026,193 (GRCm39) |
|
probably null |
Het |
Hook1 |
GATGAATGA |
GATGA |
4: 95,901,549 (GRCm39) |
503 |
probably null |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
Ints13 |
A |
G |
6: 146,477,929 (GRCm39) |
S7P |
probably damaging |
Het |
Kat5 |
T |
A |
19: 5,655,713 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
C |
14: 23,364,288 (GRCm39) |
L988R |
probably damaging |
Het |
Kcnq3 |
C |
A |
15: 65,877,827 (GRCm39) |
|
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,392,231 (GRCm39) |
E273G |
possibly damaging |
Het |
Krt82 |
T |
A |
15: 101,453,591 (GRCm39) |
Q265L |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,930,690 (GRCm39) |
|
probably null |
Het |
Laptm4b |
G |
T |
15: 34,238,478 (GRCm39) |
M3I |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,084,433 (GRCm39) |
Y156C |
probably damaging |
Het |
Lrrc58 |
G |
A |
16: 37,701,771 (GRCm39) |
E350K |
probably damaging |
Het |
Lrrk1 |
A |
T |
7: 65,980,498 (GRCm39) |
D227E |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,248,895 (GRCm39) |
C7210Y |
probably damaging |
Het |
Madd |
A |
G |
2: 90,982,854 (GRCm39) |
I1363T |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,883,334 (GRCm39) |
V295A |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,297,321 (GRCm39) |
I2571T |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,717,059 (GRCm39) |
A385T |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,462,043 (GRCm39) |
Y313C |
probably damaging |
Het |
Myot |
A |
T |
18: 44,487,192 (GRCm39) |
H343L |
possibly damaging |
Het |
Myt1 |
C |
A |
2: 181,467,772 (GRCm39) |
Q1069K |
probably damaging |
Het |
Nid1 |
T |
A |
13: 13,674,253 (GRCm39) |
D877E |
probably damaging |
Het |
Nle1 |
A |
G |
11: 82,796,394 (GRCm39) |
V159A |
probably damaging |
Het |
Nmbr |
C |
A |
10: 14,646,186 (GRCm39) |
Y353* |
probably null |
Het |
Nos1ap |
T |
A |
1: 170,156,735 (GRCm39) |
D241V |
probably damaging |
Het |
Nostrin |
A |
C |
2: 68,996,347 (GRCm39) |
Y209S |
probably damaging |
Het |
Or14j4 |
T |
G |
17: 37,921,362 (GRCm39) |
E93D |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,316,707 (GRCm39) |
M34K |
probably damaging |
Het |
Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
Or5d40 |
A |
T |
2: 88,015,439 (GRCm39) |
S73C |
probably benign |
Het |
Or8h9 |
A |
T |
2: 86,789,625 (GRCm39) |
M59K |
probably damaging |
Het |
Or8s2 |
G |
A |
15: 98,276,277 (GRCm39) |
T238I |
possibly damaging |
Het |
Pcdh7 |
T |
A |
5: 58,286,338 (GRCm39) |
V1138E |
probably damaging |
Het |
Pglyrp3 |
T |
G |
3: 91,933,874 (GRCm39) |
V173G |
probably benign |
Het |
Plec |
T |
C |
15: 76,067,374 (GRCm39) |
T1331A |
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,040,765 (GRCm39) |
D1787G |
probably benign |
Het |
Pms1 |
T |
A |
1: 53,321,147 (GRCm39) |
I29F |
probably damaging |
Het |
Ptprt |
G |
A |
2: 161,653,908 (GRCm39) |
T574I |
probably damaging |
Het |
R3hdm1 |
A |
G |
1: 128,118,430 (GRCm39) |
Y561C |
probably damaging |
Het |
Rab17 |
A |
G |
1: 90,887,800 (GRCm39) |
F120S |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,157 (GRCm39) |
W62R |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,575,493 (GRCm39) |
G4835E |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,705,493 (GRCm39) |
V807A |
probably benign |
Het |
Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
Slc23a1 |
C |
T |
18: 35,759,487 (GRCm39) |
R26Q |
unknown |
Het |
Slc7a4 |
C |
A |
16: 17,392,408 (GRCm39) |
R342L |
possibly damaging |
Het |
Slfn9 |
C |
T |
11: 82,875,481 (GRCm39) |
C367Y |
possibly damaging |
Het |
Slitrk6 |
T |
G |
14: 110,988,226 (GRCm39) |
T494P |
probably benign |
Het |
Tasor |
C |
T |
14: 27,201,992 (GRCm39) |
T1462I |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,646,533 (GRCm39) |
|
probably benign |
Het |
Tiparp |
C |
A |
3: 65,436,673 (GRCm39) |
|
probably benign |
Het |
Tmem39b |
T |
C |
4: 129,572,481 (GRCm39) |
T374A |
probably benign |
Het |
Trim5 |
G |
A |
7: 103,925,998 (GRCm39) |
R188* |
probably null |
Het |
Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,204,518 (GRCm39) |
T4810M |
probably damaging |
Het |
Vmn2r26 |
A |
T |
6: 124,038,196 (GRCm39) |
E590D |
probably benign |
Het |
Wwc1 |
A |
G |
11: 35,761,355 (GRCm39) |
F650S |
probably benign |
Het |
Xrcc6 |
T |
A |
15: 81,907,178 (GRCm39) |
F167I |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,111,281 (GRCm39) |
H657L |
probably benign |
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 |
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'- TGTTTTGCACTGTTCTGAGCATAC -3'
(R):5'- CAGTTCACAAAGCCCTTGTCC -3'
Sequencing Primer
(F):5'- CACTGTTCTGAGCATACTTGATG -3'
(R):5'- ACAAAGCCCTTGTCCATGTTC -3'
|
Posted On |
2014-10-01 |