Incidental Mutation 'R7414:Cntrl'
| ID |
575265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
045494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R7414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35055479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1706
(I1706L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000124081]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: I1707L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: I1707L
| 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: I1706L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: I1706L
| 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: ENSMUST00000113034
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.68e-5 |
PROSPERO |
|
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
549 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
566 |
579 |
1.52e-6 |
PROSPERO |
|
internal_repeat_2
|
568 |
596 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
600 |
608 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
626 |
653 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
715 |
748 |
N/A |
INTRINSIC |
|
coiled coil region
|
767 |
1076 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1095 |
1112 |
5.68e-5 |
PROSPERO |
|
low complexity region
|
1184 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1356 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
|
low complexity region
|
1421 |
1432 |
N/A |
INTRINSIC |
|
low complexity region
|
1640 |
1655 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1699 |
1712 |
1.52e-6 |
PROSPERO |
|
low complexity region
|
1736 |
1754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113037
AA Change: I1153L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: I1153L
| 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: I1707L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: I1707L
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (98/101) |
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,779 (GRCm39) |
T90M |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,896,387 (GRCm39) |
S540T |
probably benign |
Het |
| Adcy4 |
G |
A |
14: 56,019,090 (GRCm39) |
L156F |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,510,256 (GRCm39) |
L95M |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,611,670 (GRCm39) |
T567A |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,485,741 (GRCm39) |
I1378V |
possibly damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,706,539 (GRCm39) |
H639L |
probably damaging |
Het |
| Arfrp1 |
C |
T |
2: 181,001,307 (GRCm39) |
R189Q |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,459,193 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Bap1 |
G |
C |
14: 30,975,572 (GRCm39) |
G139R |
probably benign |
Het |
| Bms1 |
C |
T |
6: 118,360,706 (GRCm39) |
R1254Q |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,235 (GRCm39) |
V94A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,821,998 (GRCm39) |
F209L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,302,596 (GRCm39) |
T144A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,410,611 (GRCm39) |
T87A |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,832,344 (GRCm39) |
V981L |
probably benign |
Het |
| Cxcr6 |
G |
A |
9: 123,639,287 (GRCm39) |
W103* |
probably null |
Het |
| Dld |
A |
T |
12: 31,385,525 (GRCm39) |
F272Y |
probably damaging |
Het |
| Dmrt2 |
T |
A |
19: 25,650,950 (GRCm39) |
D45E |
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,433,502 (GRCm39) |
L8* |
probably null |
Het |
| Epg5 |
G |
T |
18: 78,026,747 (GRCm39) |
R1246L |
possibly damaging |
Het |
| Ets1 |
T |
A |
9: 32,664,153 (GRCm39) |
C350* |
probably null |
Het |
| Fam135b |
C |
T |
15: 71,350,105 (GRCm39) |
R345Q |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,229,122 (GRCm39) |
R696H |
probably damaging |
Het |
| Gbf1 |
C |
A |
19: 46,271,797 (GRCm39) |
Y159* |
probably null |
Het |
| Gcsam |
T |
C |
16: 45,437,301 (GRCm39) |
|
probably null |
Het |
| Gmpr2 |
G |
T |
14: 55,910,259 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
C |
A |
17: 36,498,275 (GRCm39) |
V257L |
not run |
Het |
| Hadha |
A |
G |
5: 30,331,610 (GRCm39) |
F449L |
possibly damaging |
Het |
| Haus3 |
T |
A |
5: 34,323,477 (GRCm39) |
I378L |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,706,392 (GRCm39) |
H272L |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,889 (GRCm39) |
V747A |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,370 (GRCm39) |
V81M |
possibly damaging |
Het |
| Insyn2a |
G |
T |
7: 134,519,738 (GRCm39) |
A264D |
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,840,673 (GRCm39) |
C345* |
probably null |
Het |
| Ipmk |
T |
A |
10: 71,217,124 (GRCm39) |
F223I |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,274,706 (GRCm39) |
N825K |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,475,072 (GRCm39) |
K344E |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,836,649 (GRCm39) |
T530I |
|
Het |
| Kmt2d |
C |
T |
15: 98,737,737 (GRCm39) |
V5120M |
unknown |
Het |
| Krt6b |
T |
G |
15: 101,587,449 (GRCm39) |
D215A |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,581,335 (GRCm39) |
K124R |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,240 (GRCm39) |
V67D |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrrc32 |
A |
T |
7: 98,149,201 (GRCm39) |
Q660H |
probably benign |
Het |
| Lurap1l |
T |
A |
4: 80,871,991 (GRCm39) |
H161Q |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,189 (GRCm39) |
I245T |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,069,022 (GRCm39) |
*1119K |
probably null |
Het |
| Mertk |
C |
A |
2: 128,571,313 (GRCm39) |
A89E |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 121,011,074 (GRCm39) |
Y375N |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,374,309 (GRCm39) |
D121E |
|
Het |
| N4bp2l1 |
T |
A |
5: 150,499,758 (GRCm39) |
N116I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,756 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,289,977 (GRCm39) |
D178E |
probably benign |
Het |
| Nt5c2 |
C |
A |
19: 46,878,328 (GRCm39) |
G444C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,349 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,762 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,764 (GRCm39) |
F64L |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,460,359 (GRCm39) |
S220A |
possibly damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,247 (GRCm39) |
S138P |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,866,267 (GRCm39) |
N979K |
|
Het |
| Prkcb |
A |
T |
7: 122,167,450 (GRCm39) |
T387S |
possibly damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,821,135 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,913,271 (GRCm39) |
E1668K |
possibly damaging |
Het |
| Sec16a |
T |
G |
2: 26,313,643 (GRCm39) |
T455P |
|
Het |
| Sec24b |
C |
A |
3: 129,803,514 (GRCm39) |
V412F |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,145 (GRCm39) |
N220S |
probably benign |
Het |
| Sgip1 |
C |
T |
4: 102,824,821 (GRCm39) |
Q581* |
probably null |
Het |
| Shf |
A |
T |
2: 122,190,063 (GRCm39) |
I175N |
possibly damaging |
Het |
| Slc16a10 |
G |
A |
10: 40,017,992 (GRCm39) |
T14M |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,254 (GRCm39) |
M258K |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,618 (GRCm39) |
Y308* |
probably null |
Het |
| Slfnl1 |
T |
C |
4: 120,392,451 (GRCm39) |
Y249H |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,782,074 (GRCm39) |
Y29C |
probably damaging |
Het |
| Snai1 |
C |
A |
2: 167,380,588 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,518,289 (GRCm39) |
Y368C |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,365,334 (GRCm39) |
V126M |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,715 (GRCm39) |
Y87F |
probably damaging |
Het |
| Tarm1 |
C |
A |
7: 3,545,318 (GRCm39) |
M177I |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,819,786 (GRCm39) |
F485L |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,556,717 (GRCm39) |
I435F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,128 (GRCm39) |
V15A |
probably benign |
Het |
| Tll2 |
T |
C |
19: 41,092,268 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,612,776 (GRCm39) |
D104G |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,555 (GRCm39) |
L887P |
probably damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,168,642 (GRCm39) |
V132D |
probably damaging |
Het |
| Tomt |
T |
A |
7: 101,549,715 (GRCm39) |
D191V |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,160,459 (GRCm39) |
M373V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,568,493 (GRCm39) |
P27467S |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,573,130 (GRCm39) |
V25921G |
probably damaging |
Het |
| Ubxn2a |
A |
C |
12: 4,941,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Uchl5 |
A |
T |
1: 143,682,433 (GRCm39) |
K319N |
unknown |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,693 (GRCm39) |
D222G |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,446 (GRCm39) |
I10V |
unknown |
Het |
| Vps13b |
T |
C |
15: 35,910,973 (GRCm39) |
I3579T |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,295 (GRCm39) |
H443Q |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,250,407 (GRCm39) |
M2T |
unknown |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,359 (GRCm39) |
T160A |
possibly 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 |
|
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 |
|
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'- GAGTCGGGGCATTGTAACTG -3'
(R):5'- CTCTAGTTTCTCCTGAGTGAGAGAG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTCTCCTGAGTGAGAGAGAAGATTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation