Incidental Mutation 'R6970:Cntrl'
| ID |
542155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
045080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35008149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 188
(F188L)
|
| 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: F188L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: F188L
| 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: F188L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: F188L
| 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: F188L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: F188L
| 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: ENSMUST00000156933
AA Change: F188L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: F188L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
C |
7: 131,036,044 (GRCm39) |
Y285H |
possibly damaging |
Het |
| Adam17 |
A |
G |
12: 21,395,669 (GRCm39) |
S285P |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,384,485 (GRCm39) |
N1082S |
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,789,656 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Ambra1 |
T |
A |
2: 91,602,945 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,805 (GRCm39) |
V543A |
probably damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,185 (GRCm39) |
D311V |
probably damaging |
Het |
| Blnk |
G |
T |
19: 40,950,821 (GRCm39) |
P110Q |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,875,927 (GRCm39) |
E968G |
probably damaging |
Het |
| Ccdc14 |
A |
T |
16: 34,529,903 (GRCm39) |
E394V |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,491,954 (GRCm39) |
H1086Q |
probably benign |
Het |
| Ccdc85b |
T |
A |
19: 5,507,248 (GRCm39) |
I60F |
probably damaging |
Het |
| Ceacam20 |
T |
A |
7: 19,723,902 (GRCm39) |
L562Q |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,217,032 (GRCm39) |
V750A |
probably benign |
Het |
| Dclk1 |
A |
T |
3: 55,374,022 (GRCm39) |
|
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,587,674 (GRCm39) |
L434H |
probably damaging |
Het |
| Ddx51 |
G |
A |
5: 110,804,728 (GRCm39) |
V547M |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,072,679 (GRCm39) |
Q1472L |
probably benign |
Het |
| Dnajb13 |
T |
C |
7: 100,156,629 (GRCm39) |
E149G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,667,182 (GRCm39) |
E1422G |
probably benign |
Het |
| Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,924 (GRCm39) |
N3192S |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,050,120 (GRCm39) |
D3994V |
probably damaging |
Het |
| Fcgr1 |
C |
A |
3: 96,191,936 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
G |
A |
11: 48,798,739 (GRCm39) |
R585* |
probably null |
Het |
| Gm32687 |
A |
G |
10: 81,715,304 (GRCm39) |
H232R |
probably benign |
Het |
| Gm5431 |
G |
T |
11: 48,779,317 (GRCm39) |
A535D |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,056,461 (GRCm39) |
P556S |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,467,803 (GRCm39) |
G1077V |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,583,735 (GRCm39) |
T433A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,089,678 (GRCm39) |
|
probably null |
Het |
| Mus81 |
G |
T |
19: 5,535,554 (GRCm39) |
H199Q |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,085,892 (GRCm39) |
T54M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,551,506 (GRCm39) |
F1034L |
possibly damaging |
Het |
| Nfatc1 |
A |
C |
18: 80,710,228 (GRCm39) |
S513A |
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,175,092 (GRCm39) |
I88V |
possibly damaging |
Het |
| Nomo1 |
C |
T |
7: 45,695,391 (GRCm39) |
P277L |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,810 (GRCm39) |
S571L |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,918,009 (GRCm39) |
M79L |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or9a7 |
T |
C |
6: 40,521,590 (GRCm39) |
S108G |
probably benign |
Het |
| Pcdh15 |
C |
T |
10: 74,338,519 (GRCm39) |
P1005S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,375,070 (GRCm39) |
A942T |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,000,860 (GRCm39) |
C34R |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,549,280 (GRCm39) |
Q168R |
probably benign |
Het |
| Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
| Plekhm3 |
T |
G |
1: 64,931,912 (GRCm39) |
K564T |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,380 (GRCm39) |
V26A |
possibly damaging |
Het |
| Prdm10 |
T |
G |
9: 31,241,119 (GRCm39) |
Y302* |
probably null |
Het |
| Prdm8 |
A |
G |
5: 98,332,471 (GRCm39) |
E124G |
probably damaging |
Het |
| Prg4 |
T |
G |
1: 150,331,657 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,618,475 (GRCm39) |
V779A |
probably benign |
Het |
| Rbm39 |
G |
A |
2: 156,009,504 (GRCm39) |
R123C |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,565,172 (GRCm39) |
P640S |
probably damaging |
Het |
| Rpl14 |
G |
A |
9: 120,403,293 (GRCm39) |
|
probably benign |
Het |
| Rsl1d1 |
T |
A |
16: 11,011,558 (GRCm39) |
D382V |
probably benign |
Het |
| Rubcn |
G |
T |
16: 32,688,514 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Slc26a11 |
T |
G |
11: 119,247,798 (GRCm39) |
V41G |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,151,960 (GRCm39) |
F172L |
possibly damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,327,690 (GRCm39) |
Y674S |
probably damaging |
Het |
| Spata31e3 |
A |
T |
13: 50,401,007 (GRCm39) |
Y440N |
possibly damaging |
Het |
| Strc |
A |
C |
2: 121,208,495 (GRCm39) |
M292R |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,381 (GRCm39) |
T210A |
probably benign |
Het |
| Tcf7l2 |
C |
A |
19: 55,743,480 (GRCm39) |
A97E |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tepsin |
G |
A |
11: 119,986,190 (GRCm39) |
T168M |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,047,456 (GRCm39) |
M178L |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,119 (GRCm39) |
N236S |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,713,744 (GRCm39) |
V2531A |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,725,767 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,687,000 (GRCm39) |
D630E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,133,839 (GRCm39) |
W745* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,989 (GRCm39) |
G292D |
probably benign |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,340 (GRCm39) |
K681* |
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,915,375 (GRCm39) |
K98E |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,530,407 (GRCm39) |
V13A |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,228,141 (GRCm39) |
I5T |
possibly damaging |
Het |
| Zmynd8 |
C |
T |
2: 165,717,670 (GRCm39) |
E14K |
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 |
|
|
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 |
|
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'- AGAAGTAGCCTGGTCTGCTG -3'
(R):5'- GCCAATGAAACAAGGACGCC -3'
Sequencing Primer
(F):5'- GCGGCTCTTCACTGTAAACTAC -3'
(R):5'- GGACGCCAAAAGAAATCTCACTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation