Incidental Mutation 'R7085:Cntrl'
| ID |
549803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
045179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R7085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35055804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1786
(C1786S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113037]
[ENSMUST00000124081]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: C1787S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: C1787S
| 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: C1786S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: C1786S
| 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: ENSMUST00000113037
AA Change: C1233S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: C1233S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
|
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
|
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
|
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
|
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
|
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124081
|
| SMART Domains |
Protein: ENSMUSP00000143087
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156933
AA Change: C1787S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: C1787S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (75/79) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
C |
10: 29,100,476 (GRCm39) |
L283P |
probably damaging |
Het |
| Abhd18 |
T |
C |
3: 40,871,344 (GRCm39) |
M132T |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,885 (GRCm39) |
V270A |
possibly damaging |
Het |
| Ankrd34a |
A |
T |
3: 96,505,945 (GRCm39) |
Q383L |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,361,835 (GRCm39) |
D627G |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,289 (GRCm39) |
C730S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,197,768 (GRCm39) |
S4P |
unknown |
Het |
| Blzf1 |
T |
C |
1: 164,129,893 (GRCm39) |
D153G |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,950,318 (GRCm39) |
V516A |
probably benign |
Het |
| C1qa |
T |
C |
4: 136,625,091 (GRCm39) |
T20A |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,349,492 (GRCm39) |
|
probably null |
Het |
| Cfd |
T |
G |
10: 79,728,326 (GRCm39) |
V229G |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,260,027 (GRCm39) |
H64L |
unknown |
Het |
| Cntn3 |
A |
G |
6: 102,142,362 (GRCm39) |
S1002P |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,643,619 (GRCm39) |
D355G |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,285 (GRCm39) |
V539A |
possibly damaging |
Het |
| Ddx1 |
A |
C |
12: 13,279,356 (GRCm39) |
W428G |
probably damaging |
Het |
| Ddx49 |
G |
A |
8: 70,755,133 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,364,468 (GRCm39) |
V4207E |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,779,086 (GRCm39) |
S288P |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,815 (GRCm39) |
|
probably benign |
Het |
| Ecm2 |
G |
A |
13: 49,674,378 (GRCm39) |
R266K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,581,100 (GRCm39) |
L542S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,293,677 (GRCm39) |
Y282H |
possibly damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,243,200 (GRCm39) |
H20L |
probably damaging |
Het |
| Flot2 |
G |
T |
11: 77,948,900 (GRCm39) |
A292S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,362,214 (GRCm39) |
I2161V |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,889,647 (GRCm39) |
F587S |
probably damaging |
Het |
| Gm49368 |
A |
G |
7: 127,726,029 (GRCm39) |
D1147G |
unknown |
Het |
| Gprc5b |
A |
T |
7: 118,582,855 (GRCm39) |
M338K |
probably damaging |
Het |
| H1f11-ps |
A |
G |
19: 47,159,101 (GRCm39) |
V158A |
unknown |
Het |
| Hacd3 |
A |
C |
9: 64,905,525 (GRCm39) |
N204K |
probably damaging |
Het |
| Hsd3b9 |
T |
C |
3: 98,357,710 (GRCm39) |
N101D |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,962 (GRCm39) |
T4899A |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,048,212 (GRCm39) |
R49S |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,362,805 (GRCm39) |
T942K |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,668,183 (GRCm39) |
Q88L |
probably benign |
Het |
| Krtap16-1 |
T |
A |
11: 99,877,111 (GRCm39) |
I98F |
possibly damaging |
Het |
| Laptm4a |
T |
C |
12: 8,972,113 (GRCm39) |
V52A |
probably benign |
Het |
| Lmbr1 |
A |
T |
5: 29,566,090 (GRCm39) |
|
probably null |
Het |
| Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
| Mafa |
G |
T |
15: 75,619,536 (GRCm39) |
A79E |
unknown |
Het |
| Me2 |
A |
T |
18: 73,914,129 (GRCm39) |
N467K |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,746,019 (GRCm39) |
L8Q |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,556,145 (GRCm39) |
I3383F |
unknown |
Het |
| Nbas |
G |
T |
12: 13,335,259 (GRCm39) |
S151I |
probably damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,437,750 (GRCm39) |
I6N |
probably benign |
Het |
| Or10d5j |
C |
A |
9: 39,867,808 (GRCm39) |
C141F |
probably damaging |
Het |
| Or13c25 |
C |
T |
4: 52,910,961 (GRCm39) |
A278T |
probably benign |
Het |
| Or6k6 |
T |
A |
1: 173,945,226 (GRCm39) |
I119F |
probably damaging |
Het |
| Or7d11 |
G |
A |
9: 19,966,232 (GRCm39) |
H58Y |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,217,633 (GRCm39) |
V1305A |
|
Het |
| Plcb3 |
T |
C |
19: 6,937,501 (GRCm39) |
E639G |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,634,706 (GRCm39) |
L658P |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,571,391 (GRCm39) |
Q658L |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,168,812 (GRCm39) |
R269S |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,120,085 (GRCm39) |
G2856* |
probably null |
Het |
| Rsph10b |
A |
T |
5: 143,886,102 (GRCm39) |
T267S |
possibly damaging |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,050 (GRCm39) |
I161V |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,783 (GRCm39) |
P1165L |
possibly damaging |
Het |
| Scn3b |
T |
C |
9: 40,188,394 (GRCm39) |
V29A |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,056,884 (GRCm39) |
T13S |
probably benign |
Het |
| Shisal2b |
G |
T |
13: 104,994,814 (GRCm39) |
T111K |
probably benign |
Het |
| Slc22a22 |
G |
A |
15: 57,113,045 (GRCm39) |
T398I |
probably benign |
Het |
| Slc40a1 |
T |
A |
1: 45,950,688 (GRCm39) |
T255S |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,672,214 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
T |
1: 156,259,901 (GRCm39) |
V480D |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,722,546 (GRCm39) |
L878P |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,030,914 (GRCm39) |
E39V |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,203,451 (GRCm39) |
|
probably null |
Het |
| Tdpoz7 |
T |
A |
3: 93,979,939 (GRCm39) |
M5L |
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,600,113 (GRCm39) |
I700F |
probably damaging |
Het |
| Tmc3 |
A |
T |
7: 83,271,353 (GRCm39) |
K864M |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 73,964,621 (GRCm39) |
P81S |
probably benign |
Het |
| Tspan2 |
C |
A |
3: 102,668,270 (GRCm39) |
L168I |
probably benign |
Het |
| Unc13d |
C |
A |
11: 115,955,633 (GRCm39) |
S885I |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,976,082 (GRCm39) |
M799K |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,313,097 (GRCm39) |
D547G |
|
Het |
| Vps33b |
A |
G |
7: 79,925,837 (GRCm39) |
I95V |
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 |
|
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 |
|
|
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'- TCAAGGTGTCTGAATCTTCTCTC -3'
(R):5'- GCAGTGAACAAAATCTTCCTTTCTA -3'
Sequencing Primer
(F):5'- TTCTCTCTCACTCAGGAGAAACTAG -3'
(R):5'- CATAGGCCTTGAACTCGGAGATCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation