Incidental Mutation 'R2118:Cntrl'
| ID |
231165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
040122-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R2118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35051977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1050
(S1050P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108660
(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: S1604P
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: S1604P
| 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: S1603P
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: S1603P
| 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: S1050P
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: S1050P
| 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 |
noncoding transcript
Transcript: ENSMUST00000130457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156933
AA Change: S1604P
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: S1604P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (90/90) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
C |
11: 83,331,190 (GRCm39) |
S31P |
possibly damaging |
Het |
| 4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,298,227 (GRCm39) |
|
probably benign |
Het |
| Adamts8 |
T |
C |
9: 30,854,359 (GRCm39) |
F76S |
probably damaging |
Het |
| Agpat3 |
T |
C |
10: 78,113,918 (GRCm39) |
R257G |
probably damaging |
Het |
| Ahctf1 |
C |
A |
1: 179,597,017 (GRCm39) |
R43L |
probably damaging |
Het |
| AI593442 |
T |
C |
9: 52,588,993 (GRCm39) |
T195A |
probably benign |
Het |
| Aipl1 |
A |
T |
11: 71,920,195 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,864,028 (GRCm39) |
T532I |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,621 (GRCm39) |
N69D |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Asb4 |
A |
T |
6: 5,390,687 (GRCm39) |
T27S |
probably benign |
Het |
| Ash1l |
C |
G |
3: 88,892,602 (GRCm39) |
Q1494E |
possibly damaging |
Het |
| Car12 |
T |
C |
9: 66,621,174 (GRCm39) |
V15A |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,215,232 (GRCm39) |
I267V |
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,952,645 (GRCm39) |
M1445K |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,758,877 (GRCm39) |
E932G |
probably damaging |
Het |
| Cfhr1 |
G |
C |
1: 139,478,642 (GRCm39) |
Q243E |
probably benign |
Het |
| Cnih2 |
C |
A |
19: 5,148,276 (GRCm39) |
A6S |
possibly damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,079,483 (GRCm39) |
M1240I |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dbx2 |
A |
C |
15: 95,522,681 (GRCm39) |
L342R |
probably damaging |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dnajb2 |
T |
C |
1: 75,214,121 (GRCm39) |
W30R |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,537,035 (GRCm39) |
|
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,103,692 (GRCm39) |
|
probably benign |
Het |
| Gimap4 |
G |
T |
6: 48,667,905 (GRCm39) |
C92F |
probably benign |
Het |
| Gm10033 |
A |
C |
8: 69,824,942 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
A |
G |
1: 16,840,199 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,680 (GRCm39) |
V186A |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,272,260 (GRCm39) |
S967P |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Il1rap |
A |
T |
16: 26,529,315 (GRCm39) |
H379L |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,814,921 (GRCm39) |
V376A |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,152,600 (GRCm39) |
S309N |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,666,234 (GRCm39) |
I471L |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,936,019 (GRCm39) |
M77K |
probably benign |
Het |
| Leo1 |
T |
A |
9: 75,353,094 (GRCm39) |
N212K |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,890,713 (GRCm39) |
V855A |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,915,526 (GRCm39) |
E43V |
probably damaging |
Het |
| Mmaa |
A |
T |
8: 79,994,588 (GRCm39) |
L406* |
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Nlrp12 |
A |
T |
7: 3,290,079 (GRCm39) |
N144K |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or4f61 |
C |
A |
2: 111,922,675 (GRCm39) |
V124L |
probably benign |
Het |
| Or5h18 |
A |
G |
16: 58,848,178 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,684,836 (GRCm39) |
T768A |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Ppp1r13l |
A |
G |
7: 19,105,346 (GRCm39) |
M373V |
possibly damaging |
Het |
| Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
| Psg16 |
C |
A |
7: 16,824,548 (GRCm39) |
H111N |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,252 (GRCm39) |
F569L |
probably benign |
Het |
| Rbpms2 |
T |
A |
9: 65,558,229 (GRCm39) |
D116E |
probably damaging |
Het |
| Rgs20 |
A |
G |
1: 4,987,113 (GRCm39) |
|
probably benign |
Het |
| Rnf114 |
T |
C |
2: 167,352,803 (GRCm39) |
L101P |
probably damaging |
Het |
| Rnf168 |
T |
G |
16: 32,097,036 (GRCm39) |
L37R |
probably damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,400,679 (GRCm39) |
V181A |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,956,556 (GRCm39) |
E884G |
possibly damaging |
Het |
| Sycn |
T |
C |
7: 28,240,713 (GRCm39) |
S127P |
probably damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,129 (GRCm39) |
I89K |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,093,029 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,410,569 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmem44 |
T |
A |
16: 30,366,262 (GRCm39) |
K55* |
probably null |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Vmn1r200 |
C |
T |
13: 22,579,353 (GRCm39) |
T43I |
probably damaging |
Het |
| Wars2 |
T |
C |
3: 99,123,883 (GRCm39) |
V248A |
probably benign |
Het |
| Wfdc6b |
C |
T |
2: 164,459,363 (GRCm39) |
R142C |
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,769,613 (GRCm39) |
|
probably null |
Het |
| Zfp759 |
C |
A |
13: 67,287,578 (GRCm39) |
|
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 |
|
|
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'- GGGAACTTTCAGGATAGCATTTG -3'
(R):5'- ATAAACCTCAGTACTGCCCTGG -3'
Sequencing Primer
(F):5'- GAACTTTCAGGATAGCATTTGAAATG -3'
(R):5'- GTACTGCCCTGGACTTCTAAGAAAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation