Incidental Mutation 'R0276:Cntrl'
ID |
35349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
038498-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R0276 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35041744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 619
(Y619F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108660
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000201787]
|
AlphaFold |
A2AL36 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028237
AA Change: Y1173F
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110 AA Change: Y1173F
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 |
possibly damaging
Transcript: ENSMUST00000113032
AA Change: Y1172F
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110 AA Change: Y1172F
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: ENSMUST00000113033
|
SMART Domains |
Protein: ENSMUSP00000108656 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113034
AA Change: Y620F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108657 Gene: ENSMUSG00000057110 AA Change: Y620F
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 |
possibly damaging
Transcript: ENSMUST00000113037
AA Change: Y619F
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110 AA Change: Y619F
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: 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 |
possibly damaging
Transcript: ENSMUST00000156933
AA Change: Y1173F
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110 AA Change: Y1173F
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201787
|
SMART Domains |
Protein: ENSMUSP00000143914 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
71 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0712 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.2%
- 20x: 93.8%
|
Validation Efficiency |
98% (101/103) |
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: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
G |
2: 26,865,772 (GRCm39) |
N109S |
possibly damaging |
Het |
Adcy10 |
T |
A |
1: 165,400,160 (GRCm39) |
M1523K |
possibly damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,609,845 (GRCm39) |
S1095N |
possibly damaging |
Het |
Ang2 |
C |
T |
14: 51,432,975 (GRCm39) |
V136I |
probably damaging |
Het |
Arhgap10 |
A |
T |
8: 78,140,210 (GRCm39) |
M250K |
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,222,669 (GRCm39) |
W1088R |
probably benign |
Het |
Arhgef15 |
T |
C |
11: 68,844,298 (GRCm39) |
|
probably benign |
Het |
Aspm |
T |
C |
1: 139,406,209 (GRCm39) |
S1699P |
possibly damaging |
Het |
Atp12a |
C |
A |
14: 56,625,151 (GRCm39) |
D1014E |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,085,468 (GRCm39) |
K45M |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,944,016 (GRCm39) |
|
probably benign |
Het |
Baiap3 |
A |
C |
17: 25,462,661 (GRCm39) |
F1099C |
probably damaging |
Het |
Bcas3 |
T |
A |
11: 85,361,663 (GRCm39) |
|
probably null |
Het |
Bms1 |
G |
A |
6: 118,385,095 (GRCm39) |
T371M |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Capn3 |
T |
C |
2: 120,318,546 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,923,534 (GRCm39) |
D1105G |
probably damaging |
Het |
Ccdc33 |
G |
T |
9: 57,965,675 (GRCm39) |
P364Q |
probably damaging |
Het |
Clstn3 |
A |
G |
6: 124,408,699 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
Cpt1b |
T |
C |
15: 89,304,162 (GRCm39) |
H503R |
probably benign |
Het |
Crb1 |
T |
A |
1: 139,251,073 (GRCm39) |
T293S |
possibly damaging |
Het |
D130043K22Rik |
C |
T |
13: 25,042,028 (GRCm39) |
T319I |
possibly damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,179,821 (GRCm39) |
I274T |
probably benign |
Het |
Dzip1l |
G |
A |
9: 99,543,051 (GRCm39) |
R502Q |
probably benign |
Het |
Efcab5 |
A |
G |
11: 77,020,702 (GRCm39) |
M673T |
probably damaging |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
F2rl3 |
A |
G |
8: 73,489,426 (GRCm39) |
T218A |
probably benign |
Het |
Fam135a |
C |
T |
1: 24,107,045 (GRCm39) |
R31H |
probably damaging |
Het |
Fcer2a |
A |
T |
8: 3,739,811 (GRCm39) |
N53K |
possibly damaging |
Het |
Golgb1 |
A |
C |
16: 36,734,238 (GRCm39) |
K1162Q |
probably damaging |
Het |
Gpr137b |
A |
T |
13: 13,542,160 (GRCm39) |
|
probably benign |
Het |
Haspin |
A |
T |
11: 73,027,313 (GRCm39) |
L592Q |
probably damaging |
Het |
Helq |
A |
G |
5: 100,938,013 (GRCm39) |
F478L |
probably damaging |
Het |
Iho1 |
A |
T |
9: 108,305,639 (GRCm39) |
M11K |
possibly damaging |
Het |
Il17rb |
T |
A |
14: 29,726,337 (GRCm39) |
T84S |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,151,837 (GRCm39) |
L880P |
probably damaging |
Het |
Itih5 |
A |
G |
2: 10,190,375 (GRCm39) |
I61V |
possibly damaging |
Het |
Ivl |
G |
A |
3: 92,478,821 (GRCm39) |
L415F |
unknown |
Het |
Kif2a |
A |
G |
13: 107,113,158 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,748,192 (GRCm39) |
|
probably benign |
Het |
Lars2 |
A |
G |
9: 123,267,186 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
T |
C |
10: 51,367,677 (GRCm39) |
V73A |
probably benign |
Het |
Lratd2 |
G |
T |
15: 60,695,523 (GRCm39) |
Y74* |
probably null |
Het |
Lrrc8a |
A |
G |
2: 30,146,800 (GRCm39) |
D538G |
possibly damaging |
Het |
Lrrk1 |
G |
A |
7: 65,946,011 (GRCm39) |
|
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,203 (GRCm39) |
I30K |
possibly damaging |
Het |
Mybbp1a |
C |
A |
11: 72,340,933 (GRCm39) |
|
probably null |
Het |
Napg |
C |
T |
18: 63,120,034 (GRCm39) |
R149C |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,314,517 (GRCm39) |
|
probably benign |
Het |
Nlk |
T |
C |
11: 78,462,301 (GRCm39) |
I509V |
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,331,108 (GRCm39) |
N429K |
probably benign |
Het |
Nlrp9b |
A |
G |
7: 19,762,423 (GRCm39) |
T247A |
probably benign |
Het |
Noxo1 |
A |
T |
17: 24,919,136 (GRCm39) |
|
probably null |
Het |
Or1n1b |
A |
T |
2: 36,780,035 (GRCm39) |
M275K |
probably benign |
Het |
Or2ag2b |
A |
T |
7: 106,417,904 (GRCm39) |
I205L |
probably benign |
Het |
Or3a10 |
A |
G |
11: 73,935,944 (GRCm39) |
I52T |
probably damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,099 (GRCm39) |
C96* |
probably null |
Het |
Or4m1 |
C |
A |
14: 50,557,636 (GRCm39) |
A219S |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,683,458 (GRCm39) |
S294P |
probably damaging |
Het |
Pfpl |
A |
G |
19: 12,406,601 (GRCm39) |
Y284C |
probably damaging |
Het |
Pi16 |
A |
T |
17: 29,545,917 (GRCm39) |
T232S |
probably benign |
Het |
Plcxd2 |
A |
T |
16: 45,830,070 (GRCm39) |
N50K |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,312,703 (GRCm39) |
N52Y |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,357,634 (GRCm39) |
|
probably benign |
Het |
Prrc2b |
G |
A |
2: 32,109,666 (GRCm39) |
V1080I |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,164,321 (GRCm39) |
N130K |
probably benign |
Het |
Psme4 |
C |
A |
11: 30,761,980 (GRCm39) |
T440K |
probably damaging |
Het |
Ptcd2 |
T |
C |
13: 99,458,104 (GRCm39) |
K296E |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,378,596 (GRCm39) |
|
probably null |
Het |
Rab5b |
A |
C |
10: 128,522,615 (GRCm39) |
|
probably null |
Het |
Rft1 |
T |
A |
14: 30,412,540 (GRCm39) |
S534T |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rsu1 |
A |
T |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
Senp6 |
A |
G |
9: 80,044,029 (GRCm39) |
M887V |
probably benign |
Het |
Sgcz |
T |
A |
8: 38,420,073 (GRCm39) |
M60L |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,925,861 (GRCm39) |
Q282* |
probably null |
Het |
Sipa1l2 |
T |
C |
8: 126,148,679 (GRCm39) |
T1655A |
probably damaging |
Het |
Slc28a2b |
T |
A |
2: 122,352,409 (GRCm39) |
S389T |
probably damaging |
Het |
Slc43a3 |
G |
A |
2: 84,768,007 (GRCm39) |
|
probably benign |
Het |
Snx29 |
T |
C |
16: 11,556,237 (GRCm39) |
V756A |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,045,460 (GRCm39) |
H1539Q |
probably damaging |
Het |
Stk3 |
A |
C |
15: 35,099,615 (GRCm39) |
S104A |
probably damaging |
Het |
Stk38 |
C |
A |
17: 29,211,390 (GRCm39) |
|
probably null |
Het |
Stx6 |
T |
C |
1: 155,049,909 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
G |
A |
13: 92,912,040 (GRCm39) |
T230I |
probably benign |
Het |
Thrsp |
A |
G |
7: 97,066,709 (GRCm39) |
M1T |
probably null |
Het |
Tmem63b |
A |
T |
17: 45,986,299 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
G |
11: 98,900,733 (GRCm39) |
|
probably benign |
Het |
Tpd52l2 |
T |
C |
2: 181,143,852 (GRCm39) |
|
probably null |
Het |
Trak1 |
A |
G |
9: 121,283,404 (GRCm39) |
E390G |
probably damaging |
Het |
Trappc3 |
T |
A |
4: 126,167,745 (GRCm39) |
D101E |
possibly damaging |
Het |
Trhr |
A |
G |
15: 44,060,482 (GRCm39) |
M1V |
probably null |
Het |
Triobp |
T |
A |
15: 78,857,876 (GRCm39) |
I1159K |
probably benign |
Het |
Unc45a |
A |
G |
7: 79,976,045 (GRCm39) |
|
probably benign |
Het |
Usb1 |
A |
G |
8: 96,060,085 (GRCm39) |
D12G |
probably damaging |
Het |
Ushbp1 |
C |
T |
8: 71,847,293 (GRCm39) |
C113Y |
possibly damaging |
Het |
Vim |
A |
G |
2: 13,579,670 (GRCm39) |
K143R |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,797,515 (GRCm39) |
K766R |
probably benign |
Het |
Xpo5 |
T |
G |
17: 46,552,433 (GRCm39) |
C1089G |
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 |
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 |
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'- TGACAGGACTCCAGCTACTGCTTC -3'
(R):5'- GCTTTCCTTATGCAATGCGGCCTAC -3'
Sequencing Primer
(F):5'- TCTATCTGTAAGAAATGAGCGGC -3'
(R):5'- GGCCTACCTCTCTTTGAAAATGAC -3'
|
Posted On |
2013-05-09 |